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Gene: Six1 MGI:102780

Gene Summary

Name:

sine oculis-related homeobox 1

Synonyms:

N/A

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype	Allele	Zyg	Life Stage	P Value
enlarged heart	Six1^em1(IMPC)Mbp	HET	Late adult	0.00
small kidney	Six1^em1(IMPC)Mbp	HET	Late adult	0.00
prolonged RR interval	Six1^em1(IMPC)Mbp	HET	Late adult	1.91×10^-10
abnormal retina morphology	Six1^em1(IMPC)Mbp	HET	Early adult	6.70×10^-05
enlarged kidney	Six1^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal uterus morphology	Six1^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal skin morphology	Six1^em1(IMPC)Mbp	HET	Late adult	0.00
enlarged spleen	Six1^em1(IMPC)Mbp	HET	Late adult	0.00
decreased circulating calcium level	Six1^em1(IMPC)Mbp	HET	Early adult	4.80×10^-05
embryonic growth retardation	Six1^em1(IMPC)Mbp	HOM	E15.5	0.00
decreased heart rate	Six1^em1(IMPC)Mbp	HET	Late adult	1.14×10^-07
decreased leukocyte cell number	Six1^em1(IMPC)Mbp	HET	Late adult	4.97×10^-07
abnormal kidney morphology	Six1^em1(IMPC)Mbp	HET	Late adult	0.00
edema	Six1^em1(IMPC)Mbp	HET	E15.5	0.00
abnormal spleen morphology	Six1^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal blood vessel morphology	Six1^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal heart morphology	Six1^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal blood vessel morphology	Six1^em1(IMPC)Mbp	HET	E15.5	0.00
abnormal placenta morphology	Six1^em1(IMPC)Mbp	HET	E15.5	0.00
abnormal placenta morphology	Six1^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal placenta vasculature	Six1^em1(IMPC)Mbp	HET	E15.5	0.00
decreased prepulse inhibition	Six1^em1(IMPC)Mbp	HET	Early adult	7.54×10^-08
edema	Six1^em1(IMPC)Mbp	HOM	E15.5	0.00
small spleen	Six1^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal craniofacial morphology	Six1^em1(IMPC)Mbp	HOM	E15.5	0.00
preweaning lethality, complete penetrance	Six1^em1(IMPC)Mbp	HOM	Early adult	0.00

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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Gross Morphology Embryo E14.5-E15.5

Images

26 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Six1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Six1 (4 diseases)
Human diseases predicted to be associated with Six1 (2966 diseases)

The table below shows human diseases associated to Six1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Bor Syndrome	Retrognathia, Abnormal lacrimal duct morphology, Renal hypoplasia/aplasia, Renal insufficiency, S...	ORPHA:107
Deafness, Autosomal Dominant 23	Sensorineural hearing impairment, Conductive hearing impairment	OMIM:605192
Branchiootic Syndrome	Abnormal middle ear morphology, Abnormality of the inner ear, Sensorineural hearing impairment, F...	ORPHA:52429
Branchiootic Syndrome 3	Sensorineural hearing impairment	OMIM:608389

The table below shows human diseases predicted to be associated to Six1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Auditory Neuropathy, Autosomal Dominant 1	Sensorineural hearing impairment, Absence of acoustic reflex, Abnormal auditory evoked potentials...	OMIM:609129
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities	Absent stapes head, Abnormal pinna morphology, Bilateral conductive hearing impairment, Abnormali...	OMIM:128980
Deafness-Ear Malformation-Facial Palsy Syndrome	Abnormal antihelix morphology, Aplasia/Hypoplasia of the earlobes, Abnormal pinna morphology, Fac...	ORPHA:3232
Deafness, Autosomal Recessive 9	Sensorineural hearing impairment, Absence of acoustic reflex, Absent brainstem auditory responses	OMIM:601071
Deafness, Autosomal Dominant 85	Sensorineural hearing impairment, Cochlear nerve hypoplasia	OMIM:620227
Ossicular Malformations, Familial	Congenital conductive hearing impairment, Abnormality of the middle ear ossicles	OMIM:165680
Deafness, Autosomal Recessive 109	Congenital sensorineural hearing impairment, Abnormal semicircular canal morphology, Absent vesti...	OMIM:618013
Deafness, X-Linked 2	Mixed hearing impairment, Conductive hearing impairment, Congenital sensorineural hearing impairm...	OMIM:304400
Deafness, Conductive, With Malformed External Ear	Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle...	OMIM:221300
Facial Paresis, Hereditary Congenital, 2	Hearing impairment, Facial palsy	OMIM:604185
Deafness, Autosomal Dominant 87	Hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochlea type II	OMIM:620281
Deafness, Progressive, With Stapes Fixation	Stapes ankylosis, Bilateral conductive hearing impairment	OMIM:601449
Progressive Deafness With Stapes Fixation	Stapes ankylosis, Bilateral conductive hearing impairment	ORPHA:3235
Poland Syndrome	Unilateral hypoplasia of pectoralis major muscle, Hypoplasia of deltoid muscle, Hypoplasia of lat...	OMIM:173800
Sprengel Deformity	Abnormal shoulder morphology, Torticollis, Shoulder muscle hypoplasia, Abnormality of the shoulde...	ORPHA:3181
Deafness, Autosomal Dominant 75	Sensorineural hearing impairment, Abnormal cochlea morphology	OMIM:618778
Deafness, X-Linked 6	Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea	OMIM:300914
Conductive Deafness-Malformed External Ear Syndrome	Stenosis of the external auditory canal, Abnormal pinna morphology, Sensorineural hearing impairm...	ORPHA:3216
Deafness, Autosomal Recessive 104	Prelingual sensorineural hearing impairment, Abnormal vestibular function, Absent brainstem audit...	OMIM:616515
Deafness-Hypogonadism Syndrome	Abnormality of the internal auditory canal, Progressive sensorineural hearing impairment, Abnorma...	ORPHA:90646
Lethal Congenital Contracture Syndrome 1	Hypoplasia of the musculature, Neonatal death, Skeletal muscle atrophy, Arthrogryposis multiplex ...	OMIM:253310
Polycystic Kidney Disease 5	Enlarged kidney, Polycystic kidney dysplasia, Hypertension, Hepatosplenomegaly, Hyperechogenic ki...	OMIM:617610
Atresia Of External Auditory Canal And Conductive Deafness	Atresia of the external auditory canal, Stenosis of the external auditory canal, Conductive heari...	OMIM:108760
Otosclerosis 7	Childhood onset sensorineural hearing impairment, Otosclerosis, Progressive hearing impairment, A...	OMIM:611572
Retinal Dysplasia, Primary	Falciform retinal fold, Retinal dysplasia	OMIM:312550
Non-Syndromic Genetic Deafness	Abnormal vestibulo-ocular reflex, Postlingual sensorineural hearing impairment, Prelingual sensor...	ORPHA:87884
7Q31 Microdeletion Syndrome	Long philtrum, Short palpebral fissure, Childhood onset sensorineural hearing impairment, Galacto...	ORPHA:251061
Deafness, Autosomal Dominant 44	Abnormal inner ear morphology, Sensorineural hearing impairment, Abnormal vestibular function, Ti...	OMIM:607453
Deafness, Autosomal Dominant 86	Abnormal inner ear morphology, Sensorineural hearing impairment, Abnormal vestibular function, Ti...	OMIM:620280
Bor Syndrome	Retrognathia, Abnormal lacrimal duct morphology, Renal hypoplasia/aplasia, Renal insufficiency, S...	ORPHA:107
Branchiootorenal Syndrome 1	Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Microdontia, Intestinal mal...	OMIM:113650
Deafness, Unilateral, With Delayed Endolymphatic Hydrops	Unilateral deafness	OMIM:612097
Congenital Patella Dislocation	Genu valgum, Aplasia/Hypoplasia of the quadriceps, Limited knee extension, Knee flexion contractu...	ORPHA:295036
Deafness, Autosomal Dominant 80	Cochlear aplasia, Abnormal semicircular canal morphology, Dilated vestibule of the inner ear, Con...	OMIM:619274
Deafness, Autosomal Dominant 77	Abnormal inner ear morphology, Sensorineural hearing impairment, Tinnitus	OMIM:618915
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Acetabular dysplasia, Cervical C2/C3 vertebral fusion, Low-set ears, Everted lower lip vermilion,...	OMIM:616549
Hepatorenocardiac Degenerative Fibrosis	Cirrhosis, Jaundice, Enlarged kidney, Tubular luminal dilatation, Hepatocellular carcinoma, Renal...	OMIM:619902
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary...	OMIM:615285
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	Hypocalcemia, T lymphocytopenia	DECIPHER:16
Deafness, Autosomal Dominant 23	Sensorineural hearing impairment, Conductive hearing impairment	OMIM:605192
Middle Ear Neuroendocrine Tumor	Unilateral conductive hearing impairment, Sensorineural hearing impairment, Abnormal auditory can...	ORPHA:100084
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl...	OMIM:600791
Sprengel Deformity	Neck muscle hypoplasia, Rib segmentation abnormalities, Shoulder muscle hypoplasia, Sprengel anomaly	OMIM:184400
Otosclerosis 11	Otosclerosis, Sensorineural hearing impairment, Absence of acoustic reflex, Conductive hearing im...	OMIM:620576
Frontometaphyseal Dysplasia 1	Limited elbow movement, Cervical C2/C3 vertebral fusion, Dislocated radial head, Wrist flexion co...	OMIM:305620
Auriculocondylar Syndrome 2A	Short mandibular rami, Dental crowding, Mandibular condyle hypoplasia, Temporomandibular joint an...	OMIM:614669
Mullegama-Klein-Martinez Syndrome	Congenital diaphragmatic hernia, Sensorineural hearing impairment, Microtia, Bifid uvula, Long ph...	OMIM:301022
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Pectus carinatum, Abnormality of the philtrum,...	ORPHA:3268
Monosomy 22	Thin vermilion border, Hypertonia, Retrognathia, Hypochromic microcytic anemia, Low-set, posterio...	ORPHA:96123
Ring Chromosome 8 Syndrome	Abnormal palate morphology, Short nose, Anteverted nares, Round ear, Abnormality of the ureter, H...	ORPHA:1450
Charcot-Marie-Tooth Disease, Type 4B1	Facial palsy, Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Mye...	OMIM:601382
Spondylocostal Dysostosis 3, Autosomal Recessive	Supernumerary vertebral ossification centers, Rib fusion, Contracture of the proximal interphalan...	OMIM:609813
Hypoparathyroidism, Familial Isolated, 2	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures	OMIM:618883
Deafness, Unilateral	Unilateral deafness	OMIM:125000
Hypocalcemia, Autosomal Dominant 2	Hypocalcemia, Abnormal blood phosphate concentration	OMIM:615361
Chromosome Xq21 Deletion Syndrome	Hearing impairment, Conductive hearing impairment, Progressive sensorineural hearing impairment, ...	OMIM:303110
Opticocochleodentate Degeneration	Hearing impairment, Optic atrophy, Cochlear degeneration	OMIM:258700
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Craniodiaphyseal Dysplasia	Optic atrophy, Stenosis of the external auditory canal, Conductive hearing impairment	ORPHA:1513
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Conductive hearing impairment	ORPHA:2669
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Fused cervical vertebrae, Hypospadias, Hyperlordosis, Low-set ears, Kyphosis, Abnormality of the ...	ORPHA:2522
Deafness, Conductive, With Ptosis And Skeletal Anomalies	Chronic otitis media, Conductive hearing impairment, Atresia of the external auditory canal	OMIM:221320
Pendred Syndrome	Thyroid carcinoma, Abnormality of the inner ear, Sensorineural hearing impairment, Vertigo, Hypot...	ORPHA:705
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Osteopenia, Abnormal bone ossification, Thin metacarpal cortices, Slender long bone, Hypoplasia o...	ORPHA:2463
Marinesco-Sjögren Syndrome	Muscular dystrophy, Abnormal metacarpal morphology, Pectus carinatum, Abnormal finger morphology,...	ORPHA:559
Pontocerebellar Hypoplasia, Type 16	Optic atrophy, Limb hypertonia, Abnormality of extrapyramidal motor function, Recurrent urinary t...	OMIM:619527
Stapes Ankylosis With Broad Thumbs And Toes	Conductive hearing impairment, Stapes ankylosis, Congenital stapes ankylosis	OMIM:184460
Deafness, Autosomal Dominant 9	Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment, Vertigo...	OMIM:601369
Nephronophthisis 16	Situs inversus totalis, Enlarged kidney, Nephronophthisis, Periportal fibrosis, Polycystic kidney...	OMIM:615382
Becker Nevus Syndrome	Abnormal tibia morphology, Pectus carinatum, Pectus excavatum, Shoulder girdle muscle atrophy, Su...	ORPHA:64755
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Mixed hearing impairment, Microtia, Thyroid hypoplasia, Bifid uvula, Broad philtrum, Aplasia of t...	OMIM:620186
Congenital Myopathy 22B, Severe Fetal	Dental crowding, Pectus excavatum, Thoracic hypoplasia, Triangular mouth, Short philtrum, Elbow f...	OMIM:620369
Flat Face-Microstomia-Ear Anomaly Syndrome	Long nose, High, narrow palate, Low-set, posteriorly rotated ears, Abnormal tragus morphology, Ap...	ORPHA:1968
Multiple Synostoses Syndrome	Conductive hearing impairment	ORPHA:3237
Symphalangism, Proximal, 1A	Conductive hearing impairment, Stapes ankylosis	OMIM:185800
Digital Extensor Muscle Aplasia-Polyneuropathy	Camptodactyly of finger, Muscular dystrophy, Aplasia/Hypoplasia involving the skeletal musculatur...	ORPHA:2926
Hydrolethalus Syndrome 1	Stillbirth, Midline defect of the nose, Adrenal gland dysgenesis, Hypospadias, Anencephaly, Acces...	OMIM:236680
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay	Narrow palate, Hyperkinetic movements, Highly arched eyebrow, Absent internal auditory canal, Lon...	OMIM:620469
Renal, Genital, And Middle Ear Anomalies	Hearing impairment, Abnormality of the middle ear ossicles	OMIM:267400
Endosteal Hyperostosis, Worth Type	Diaphyseal undertubulation, Clavicular sclerosis, Abnormal cortical bone morphology, Craniofacial...	ORPHA:2790
Meier-Gorlin Syndrome 8	Microtia, Low-set ears, Decreased body weight, Nephroptosis, Unilateral renal hypoplasia	OMIM:617564
Cervical Rib	Cervical ribs	OMIM:117900
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Jaundice, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration, Cholestasis, ...	OMIM:619658
Gne Myopathy	Hip flexor weakness, Limited wrist extension, Muscle fiber inclusion bodies, Lower limb amyotroph...	ORPHA:602
Immunodeficiency, Common Variable, 6	Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Abnormal T cell count, Mesangial Immu...	OMIM:613496
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Conductive hearing impairment, Cranial nerve paralysis	ORPHA:85179
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Genu valgum, Low-set, posteriorly rotated ears, Delayed eruption of teeth, Maxillozygomatic hypop...	ORPHA:2972
Treacher-Collins Syndrome	Midface retrusion, Retrognathia, Hypoplasia of penis, Microtia, Glossoptosis, Thyroid hypoplasia,...	ORPHA:861
Nager Syndrome	Abnormal palate morphology, Low-set, posteriorly rotated ears, Unilateral renal agenesis, Non-mid...	ORPHA:245
Sinoatrial Node Dysfunction And Deafness	Abnormal QRS complex, Syncope, Increased heart rate variability, Bradycardia	OMIM:614896
Asperger Syndrome, Susceptibility To, 1	Inflexible adherence to routines, Restrictive behavior, Motor stereotypy	OMIM:608638
Asperger Syndrome, Susceptibility To, 2	Inflexible adherence to routines, Restrictive behavior, Motor stereotypy	OMIM:608631
Pontocerebellar Hypoplasia, Type 7	Oculomotor apraxia, Tongue fasciculations, Spastic paraplegia, Ataxia, Opisthotonus, Myoclonus, O...	OMIM:614969
Otosclerosis 8	Hearing impairment, Otosclerosis	OMIM:612096
Otosclerosis 3	Hearing impairment, Otosclerosis	OMIM:608244
Auriculocondylar Syndrome 4	Glossoptosis, Question mark ear, Narrow mouth, Hearing impairment, Micrognathia, Apnea, Cleft palate	OMIM:620457
Distal 17P13.1 Microdeletion Syndrome	Retrognathia, Limited elbow movement, Limitation of knee mobility, Increased overbite, High palat...	ORPHA:319171
Myopathy, Distal, With Rimmed Vacuoles	Internally nucleated skeletal muscle fibers, Rimmed vacuoles, Facial palsy, Scapular winging, EMG...	OMIM:617158
Scapuloperoneal Spinal Muscular Atrophy	Muscle fiber splitting, Peroneal muscle weakness, Torticollis, Amyoplasia, Progressive distal mus...	OMIM:181405
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Aplasia of the thymus, Oral ulcer, Chronic diarrhea, B lymphocytopenia, Lymphopenia, Eosinophilia...	OMIM:602450
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome	Genu valgum, Cubitus valgus, Mandibular prognathia, Low-set ears, Smooth philtrum, Umbilical hern...	ORPHA:1778
Spinocerebellar Ataxia, Autosomal Recessive 3	Hearing impairment, Cochlear degeneration	OMIM:271250
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome	Delayed puberty, Supernumerary tooth, Abnormal antihelix morphology, Limitation of joint mobility...	ORPHA:3145
Intellectual Developmental Disorder With Nasal Speech, Dysmorphic Facies, And Variable Skeletal Anomalies	Tooth malposition, Anteverted nares, Low-set ears, Long eyelashes, Hearing impairment, Horizontal...	OMIM:618608
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Narrow palate, Contracture of the proximal interphalangeal joint of the 4th finger, Decreased res...	OMIM:618223
17Q21.31 Microduplication Syndrome	Delayed puberty, Short nose, Short philtrum, Anteverted nares, High palate, Abnormality of the de...	ORPHA:217340
Deafness, X-Linked 5, With Peripheral Neuropathy	Vertigo, Sensory axonal neuropathy, Cochlear nerve hypoplasia, Hearing impairment, Tinnitus, Abno...	OMIM:300614
Atrial Standstill	Sick sinus syndrome, Congestive heart failure, Ischemic stroke, Reduced left ventricular ejection...	ORPHA:1344
Otosclerosis 1	Otosclerosis, Conductive hearing impairment	OMIM:166800
Nemaline Myopathy 2	Sternocleidomastoid amyotrophy, Dysphagia, Long philtrum, Muscle fiber splitting, Calf muscle pse...	OMIM:256030
Wieacker-Wolff Syndrome	Retrognathia, Oculomotor apraxia, Apraxia, Congenital foot contractures, Broad alveolar ridges, A...	OMIM:314580
Dysostosis, Stanescu Type	Midface retrusion, Abnormal palate morphology, Narrow nasal bridge, Increased bone mineral densit...	ORPHA:1798
Branchiootic Syndrome	Abnormal middle ear morphology, Abnormality of the inner ear, Sensorineural hearing impairment, F...	ORPHA:52429
Toluene Embryopathy	Short nose, Thin vermilion border, Low-set ears, Micrognathia, Hydronephrosis, Smooth philtrum, P...	ORPHA:1920
Progressive Familial Intrahepatic Cholestasis	Jaundice, Hepatomegaly, Hypocalcemia, Cholestasis, Splenomegaly	ORPHA:172
Otofaciocervical Syndrome 1	Mixed hearing impairment, Hypoplasia of the cochlea, High palate, Scapular winging, Conductive he...	OMIM:166780
Optic Atrophy 8	Optic atrophy, Abnormality of pattern visual evoked potentials, Sensorineural hearing impairment,...	OMIM:616648
Alpha-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Hypocalcemia, Splenomegaly	ORPHA:100025
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Bilateral ptosis, Highly arched eyebrow, Intestinal malrotation, Enamel agenesis, Long philtrum, ...	OMIM:614701
Branchiootic Syndrome 1	Retrognathia, Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Low-set ears,...	OMIM:602588
Cleidocranial Dysplasia	Chronic otitis media, Midface retrusion, Glossoptosis, Decreased skull ossification, Sinusitis, A...	ORPHA:1452
Trimethylaminuria	Trimethylaminuria, Anemia, Hypertension, Splenomegaly, Tachycardia, Neutropenia	OMIM:602079
Distal Myopathy, Tateyama Type	Calf muscle pseudohypertrophy, EMG: myopathic abnormalities, Weakness of the intrinsic hand muscl...	ORPHA:488650
Chronic Atrial And Intestinal Dysrhythmia	Left atrial enlargement, Sick sinus syndrome, Atrial flutter, Bradycardia, Atrial fibrillation, P...	OMIM:616201
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Widely spaced teeth, Conical tooth, Peg-shaped maxillary lateral incisors, Anteverted ears, Micro...	OMIM:610706
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Narrow palate, Midface retrusion, Hearing abnormality, Preauricular skin furrow, Aplasia/Hypoplas...	ORPHA:1555
Acrofacial Dysostosis, Catania Type	Short nose, Abnormal palate morphology, Low-set, posteriorly rotated ears, Hypospadias, Spina bif...	ORPHA:1786
Microtia With Meatal Atresia And Conductive Deafness	Conductive hearing impairment, Microtia, Anotia, Aplasia/Hypoplasia of the middle ear	OMIM:251800
Mandibulofacial Dysostosis-Microcephaly Syndrome	Short nose, Abnormal middle ear morphology, Telecanthus, Abnormal antihelix morphology, Microtia,...	ORPHA:79113
Autosomal Recessive Progressive External Ophthalmoplegia	Optic atrophy, Bradykinesia, Ragged-red muscle fibers, Parkinsonism with favorable response to do...	ORPHA:254886
Aural Atresia, Congenital	Atresia of the external auditory canal, Conductive hearing impairment	OMIM:607842
Joubert Syndrome 3	Nephronophthisis, Oculomotor apraxia, Highly arched eyebrow, Anteverted nares, Low-set ears, Ptos...	OMIM:608629
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Spastic gait, Wrist flexion contracture, Spastic paraplegia, Ataxia, Babinski sign, Resting tremo...	OMIM:300055
Femoral-Facial Syndrome	Abnormal fibula morphology, Orofacial cleft, Abnormal pelvic girdle bone morphology, Abnormal rib...	ORPHA:1988
Atrial Fibrillation, Familial, 10	Paroxysmal atrial fibrillation, Left atrial enlargement, Atrial flutter, Bradycardia, Permanent a...	OMIM:614022
Atrial Fibrillation, Familial, 18	Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation, First d...	OMIM:617280
Antley-Bixler Syndrome	Short nose, Low-set, posteriorly rotated ears, Anteverted nares, Delayed cranial suture closure, ...	ORPHA:83
X-Linked Intellectual Disability, Seemanova Type	Hypoplasia of the musculature, High palate, Skeletal muscle atrophy	ORPHA:85323
Intellectual Developmental Disorder, Autosomal Dominant 52	Cervical C2/C3 vertebral fusion, Short philtrum, Anteverted nares, Sensorineural hearing impairme...	OMIM:617796
Multiple Pterygium Syndrome, X-Linked	Short finger, Multiple pterygia, Joint dislocation, Amyoplasia, Thin ribs, Cleft upper lip, Cleft...	OMIM:312150
Distal Deletion 10Q	Oculomotor apraxia, Facial diplegia, Cochlear malformation, Ataxia, Congenital sensorineural hear...	ORPHA:96148
Frontometaphyseal Dysplasia	Limited elbow movement, Limitation of knee mobility, Dislocated radial head, Wrist flexion contra...	ORPHA:1826
Acro-Renal-Mandibular Syndrome	Congenital diaphragmatic hernia, Orofacial cleft, Butterfly vertebrae, Low-set, posteriorly rotat...	ORPHA:958
Autosomal Recessive Spondylocostal Dysostosis	Congenital diaphragmatic hernia, Finger syndactyly, Short thorax, Abnormal rib morphology, Campto...	ORPHA:2311
Catel-Manzke Syndrome	Clinodactyly of the 5th finger, Glossoptosis, Pectus excavatum, Oral synechia, Radial deviation o...	ORPHA:1388
Joubert Syndrome 21	Optic atrophy, Occipital encephalocele, Megalopapilla, Single naris, Oculomotor apraxia, Encephal...	OMIM:615636
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Midface retrusion, Hypodontia, Abnormal dental enamel morphology, Bilateral cleft palate, Hyperlo...	ORPHA:3253
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Low-set, posteriorly rotated ears, Mandibular prognathia, Narrow mouth, Carious teeth, Macrotia, ...	ORPHA:1110
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Hypoventilation, Short nose, Telecanthus, Respiratory distress, Anteverted nares, Low-set ears, H...	ORPHA:314655
Distal Xq28 Microduplication Syndrome	Absent antihelix, Aplasia/Hypoplasia of the eyebrow, Thick lower lip vermilion, Dental crowding, ...	ORPHA:293939
48,Xxyy Syndrome	Chronic otitis media, Hypoplasia of penis, Ataxia, Taurodontia, Broad jaw, Tremor, Carious teeth,...	ORPHA:10
Cochleosaccular Degeneration-Cataract Syndrome	Cochlear degeneration, Progressive sensorineural hearing impairment	ORPHA:3233
X-Linked Mandibulofacial Dysostosis	Low-set, posteriorly rotated ears, Branchial anomaly, Sensorineural hearing impairment, High pala...	ORPHA:1131
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Sensorineural hearing impairment, Conductive hearing impairment	OMIM:610738
Apert Syndrome	Sensorineural hearing impairment, Hypertension, Bifid uvula, Narrow palate, Optic atrophy, Ovaria...	ORPHA:87
Chromosome 3Q29 Deletion Syndrome	Hyperactivity, Low-set ears, Gait ataxia, Macrotia, Failure to thrive, Posteriorly rotated ears, ...	OMIM:609425
Distal Deletion 1Q	Thin vermilion border, Low-set ears, Micrognathia, Epicanthus, Smooth philtrum, Depressed nasal b...	ORPHA:36367
Craniometaphyseal Dysplasia	Abnormal cranial nerve morphology, Sensorineural hearing impairment, Conductive hearing impairmen...	ORPHA:1522
Aa Amyloidosis	Acute kidney injury, Enlarged kidney, Hepatomegaly, Abnormality of the kidney, Cholestasis, Hypot...	ORPHA:85445
Multiple Pterygium Syndrome, Escobar Variant	Congenital diaphragmatic hernia, Dislocated radial head, Kyphosis, Umbilical hernia, Long philtru...	OMIM:265000
Long Qt Syndrome 15	2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi...	OMIM:616249
Childhood-Onset Nemaline Myopathy	Bradykinesia, Generalized limb muscle atrophy, Facial diplegia, Cardiomyopathy, High palate, Neur...	ORPHA:171439
Marshall Syndrome	Short nose, Thick lower lip vermilion, Genu valgum, Anteverted nares, Sensorineural hearing impai...	ORPHA:560
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Congestive heart failure, Hepatomegaly, Bradycardia, Ventricular hypertrophy, Left ventricular hy...	OMIM:619048
Glutamine Deficiency, Congenital	Thin vermilion border, Short nose, Bradycardia, Anteverted nares, Low-set ears, Camptodactyly, Mi...	OMIM:610015
Holoprosencephaly 9	Solitary median maxillary central incisor, Bilateral cleft palate, Optic nerve hypoplasia, Underd...	OMIM:610829
Ethanolaminosis	Cardiomegaly	OMIM:227150
Ceroid Lipofuscinosis, Neuronal, 10	Spasticity, Low-set ears, Rigidity, Apnea, Ataxia, Neonatal death, Wide nasal bridge	OMIM:610127
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Abnormal nostril morphology, Short nose, Genu valgum, Hypoplasia of penis, Anosmia, Joint stiffne...	ORPHA:1295
Joubert Syndrome With Renal Defect	Orofacial cleft, Aganglionic megacolon, Low-set, posteriorly rotated ears, Oculomotor apraxia, En...	ORPHA:220497
Lipodystrophy, Congenital Generalized, Type 3	Hypertriglyceridemia, Hepatomegaly, Hypocalcemia, Hepatosplenomegaly, Splenomegaly, Hepatic steat...	OMIM:612526
Autism, Susceptibility To, X-Linked 3	Inflexible adherence to routines, Restrictive behavior, Motor stereotypy	OMIM:300496
Autism, Susceptibility To, X-Linked 1	Inflexible adherence to routines, Restrictive behavior, Motor stereotypy	OMIM:300425
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology	ORPHA:2435
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Proximal muscle weakness in upper limbs, Lower limb amyotrophy, Upper limb amyotrophy, Knee flexi...	ORPHA:496689
Auriculocondylar Syndrome 1	Anterior open-bite malocclusion, Stenosis of the external auditory canal, Dental crowding, Mandib...	OMIM:602483
Facioscapulohumeral Muscular Dystrophy 1	Scapulohumeral muscular dystrophy, Calf muscle hypertrophy, Scapular winging, Facial palsy, Shoul...	OMIM:158900
Cohen Syndrome	Delayed puberty, Sensorineural hearing impairment, Kyphosis, Tooth agenesis, Joint hypermobility,...	ORPHA:193
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Congenital diaphragmatic hernia, Abnormal femur morphology, Clinodactyly of the 5th finger, Finge...	ORPHA:2141
Intellectual Disability-Short Stature-Hypertelorism Syndrome	Long philtrum, Anteverted nares, Hypoplasia of the zygomatic bone, Wide nose	ORPHA:3074
Shashi-Pena Syndrome	Retrognathia, Unilateral renal agenesis, Limb hypertonia, Cervical C2/C3 vertebral fusion, Scolio...	OMIM:617190
Pierre Robin Sequence With Facial And Digital Anomalies	Clinodactyly of the 5th finger, Easily subluxated first metacarpophalangeal joints, Glossoptosis,...	OMIM:311895
Epidermolysis Bullosa With Diaphragmatic Hernia	Congenital diaphragmatic hernia, Neonatal death	OMIM:226735
Infantile-Onset X-Linked Spinal Muscular Atrophy	Ankle flexion contracture, Weakness of facial musculature, Inflammatory myopathy, Tongue fascicul...	ORPHA:1145
Pseudohypoparathyroidism, Type Ii	Hypocalcemia, Hyperphosphatemia	OMIM:203330
Warsaw Breakage Syndrome	High palate, Hearing impairment, Wide mouth, Epicanthus, Optic disc coloboma, Cupped ear, Hypopla...	OMIM:613398
Cardiomyopathy, Dilated, 1I	Congestive heart failure, Reduced left ventricular ejection fraction, Reduced systolic function, ...	OMIM:604765
Long Qt Syndrome 16	Perimembranous ventricular septal defect, Bradycardia, Prolonged QTc interval, T-wave alternans, ...	OMIM:618782
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia	Supernumerary tooth, Widely spaced teeth, Conical tooth, Abnormal cranial nerve morphology, Senso...	ORPHA:90024
Cerebrofaciothoracic Dysplasia	Narrow chest, Rib fusion, Cleft upper lip, Sprengel anomaly, Cleft palate, Wide mouth, Broad phil...	ORPHA:1394
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Short nose, Low-set, posteriorly rotated ears, Anteverted nares, Micrognathia, Cleft palate, Epic...	ORPHA:2015
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Abnormality of the kidney, Abnormal bleeding, Neutrophil inclusion bodies, Giant platelets, Senso...	OMIM:155100
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Cervical C2/C3 vertebral fusion, Short philtrum, Low-set ears, Narrow mouth, Camptodactyly, Downt...	OMIM:617333
Pseudohypoparathyroidism Type 2	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany	ORPHA:94090
Craniofacial-Deafness-Hand Syndrome	Short nose, Telecanthus, Sensorineural hearing impairment, Hypoplasia of the maxilla, Downslanted...	OMIM:122880
Multiple Pterygium Syndrome, Lethal Type	Short finger, Multiple pterygia, Joint dislocation, Amyoplasia, Thin ribs, Cleft palate, Flexion ...	OMIM:253290
Holoprosencephaly	Congenital diaphragmatic hernia, Solitary median maxillary central incisor, Hypoplasia of penis, ...	ORPHA:2162
Snakebite Envenomation	Cerebral ischemia, Epistaxis, Acute kidney injury, Abnormal bleeding, Hypopituitarism, Respirator...	ORPHA:449285
Chromosome 22Q11.2 Duplication Syndrome	Abnormal pinna morphology, High palate, Low-set ears, Depressed nasal ridge, Velopharyngeal insuf...	OMIM:608363
Frontonasal Dysplasia 1	Short columella, Widely-spaced maxillary central incisors, Pectoral muscle hypoplasia/aplasia, Bi...	OMIM:136760
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Retrognathia, Butterfly vertebrae, Fused cervical vertebrae, Esophageal atresia, Wide nose, Unila...	OMIM:619227
Melkersson-Rosenthal Syndrome	Facial palsy, Furrowed tongue	OMIM:155900
Glycine Encephalopathy With Normal Serum Glycine	Optic atrophy, Retrognathia, Hypertonia, Anteverted nares, Elbow flexion contracture, Low-set ear...	OMIM:617301
3Mc Syndrome 2	Limited elbow movement, Caudal appendage, Torticollis, Hypoplasia of the musculature, Diastasis r...	OMIM:265050
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Lateral clavicle hook, Narrow chest, Short ribs, Postaxial hand polydactyly, Acetabular spurs, De...	OMIM:617405
Autosomal Recessive Spastic Paraplegia Type 44	Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormality of visual evok...	ORPHA:320401
Carey-Fineman-Ziter Syndrome 1	Pectoralis hypoplasia, Hypoplasia of the musculature, Facial palsy, Tapered finger, Glossoptosis,...	OMIM:254940
Deafness, Autosomal Recessive 118, With Cochlear Aplasia	Cochlear aplasia, Abnormal vestibular function, Congenital sensorineural hearing impairment	OMIM:619553
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities	Attention deficit hyperactivity disorder, Motor stereotypy	OMIM:617787
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Retrognathia, Short nose, Hypoplasia of penis, Hydrocephalus, Abnormal dental enamel morphology, ...	ORPHA:1812
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7	Hypoglycosylation of alpha-dystroglycan, Calf muscle hypertrophy, Scapular winging, Lower limb mu...	OMIM:616052
Intellectual Developmental Disorder, Autosomal Dominant 56	Bradykinesia, Long philtrum, Hypomimic face, Gastroesophageal reflux, Oromotor apraxia, Lower lim...	OMIM:617854
Charcot-Marie-Tooth Disease, Type 4C	Delayed brainstem auditory evoked response conduction time, Axonal degeneration, Abnormal cranial...	OMIM:601596
Microtia, Hearing Impairment, And Cleft Palate	Mixed hearing impairment, Stenosis of the external auditory canal, Microtia, Increased incisura l...	OMIM:612290
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Schinzel-Giedion Syndrome	Retrognathia, Broad alveolar ridges, Shallow orbits, Wide mouth, Dysphagia, Short distal phalanx ...	ORPHA:798
Intellectual Developmental Disorder, Autosomal Dominant 72	Low-set ears, Polyphagia, Renal hypoplasia, Uplifted earlobe, Obesity, Posteriorly rotated ears, ...	OMIM:620439
Isolated Klippel-Feil Syndrome	Cervical C2/C3 vertebral fusion, Abnormality of the vertebral column, Congenital muscular tortico...	ORPHA:2345
Ring Chromosome 7 Syndrome	Bilateral ptosis, Highly arched eyebrow, Small earlobe, Bifid uvula, Hypogonadism, Heart murmur, ...	ORPHA:1449
Noonan Syndrome	Osteopenia, Midface retrusion, Juvenile myelomonocytic leukemia, Thick lower lip vermilion, Low-s...	ORPHA:648
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Hypospadias, Bradycardia, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Cryptorchidism, Mi...	OMIM:618815
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Thick lower lip vermilion, Widely spaced teeth, Delayed eruption of teeth, Long palpebral fissure...	OMIM:619797
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome	Distal lower limb muscle weakness, Lower limb amyotrophy, Amyotrophy of ankle musculature, Intrin...	ORPHA:90103
Adult-Onset Nemaline Myopathy	Bradykinesia, Type 1 muscle fiber predominance, High palate, Upper limb muscle weakness, Neuromus...	ORPHA:171442
Maxillonasal Dysplasia	Abnormal nostril morphology, Short nose, Midface retrusion, Patchy distortion of vertebrae, Mandi...	ORPHA:1248
Glass Syndrome	Long nose, Dental crowding, Long philtrum, Narrow nose, Conical tooth, Anteverted nares, Oligodon...	OMIM:612313
Carey-Fineman-Ziter Syndrome 2	Hypomimic face, Long philtrum, High, narrow palate, Increased overbite, Dental crowding, Abnormal...	OMIM:619941
Treacher Collins Syndrome 3	Microtia, Conductive hearing impairment, Micrognathia, Cleft palate, Malar flattening, Hypoplasia...	OMIM:248390
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum	Optic atrophy, Thin vermilion border, Death in childhood, Spasticity, Narrow mouth, Low-set ears,...	OMIM:618766
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Lower limb amyotrophy, Calf muscle hypertrophy, Wrist flexion contracture, Upper limb amyotrophy,...	ORPHA:206549
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Short nose, Retrognathia, Meckel diverticulum, Hydrocephalus, Low-set ears, Thick nasal alae, Mic...	ORPHA:163961
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Bilateral ptosis, Sensorineural hearing impairment, Cardiomyopathy, Gait ataxia, Rigidity, Dyspha...	OMIM:258450
Otosclerosis 4	Otosclerosis, Mixed hearing impairment	OMIM:611571
Spondylocostal Dysostosis 2, Autosomal Recessive	Rib fusion	OMIM:608681
Atrial Septal Defect 6	Atrial fibrillation, Atrial septal defect, Bradycardia	OMIM:613087
Congenital Disorder Of Glycosylation, Type Iig	Short long bone, Glossoptosis, Broad femoral neck, Left ventricular hypertrophy, Long philtrum, C...	OMIM:611209
Monosomy 13Q34	Prolonged prothrombin time, Abnormal earlobe morphology, Prominent nose, Pulmonic stenosis, Horiz...	ORPHA:96168
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Hypoplasia of the musculature, Joint contracture, Cleft palate, Pterygium	OMIM:225790
Acute Promyelocytic Leukemia	Exertional dyspnea, Vertigo, Epistaxis, Leukopenia, Diffuse alveolar hemorrhage, Neutropenia, Abn...	ORPHA:520
Kniest Dysplasia	Joint stiffness, Flexion contracture of finger, Delayed patellar ossification, Hearing impairment...	ORPHA:485
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Recurrent otitis media, Cervical C2/C3 vertebral fusion, Moderate hearing impairment, Upper limb ...	ORPHA:370010
Severe X-Linked Intellectual Disability, Gustavson Type	Optic atrophy, Short nose, Hypertonia, Abnormal pinna morphology, Vesicoureteral reflux, Myoclonu...	ORPHA:3078
Primary Dystonia, Dyt13 Type	Jerky head movements, Torticollis, Torsion dystonia, Craniofacial dystonia, Limb dystonia, Action...	ORPHA:98807
Branchiogenic Deafness Syndrome	Mixed hearing impairment, Aplasia/Hypoplasia of the inner ear, Sensorineural hearing impairment, ...	ORPHA:50815
Craniofacial-Deafness-Hand Syndrome	Short nose, Abnormality of the wrist, Sensorineural hearing impairment, Narrow mouth, Depressed n...	ORPHA:1529
Xq21 Microdeletion Syndrome	Optic atrophy, Decreased response to growth hormone stimulation test, Anterior hypopituitarism, S...	ORPHA:1435
Pontocerebellar Hypoplasia, Type 6	Narrow palate, Death in childhood, Gastroesophageal reflux, Lower limb spasticity, Appendicular s...	OMIM:611523
Mosaic Trisomy 14	Hypospadias, Low-set, posteriorly rotated ears, Hypoplasia of penis, Blepharophimosis, Anteverted...	ORPHA:1703
Pfeiffer Syndrome	Short philtrum, Mandibular prognathia, Hyperlordosis, High palate, Synostosis of carpal bones, Op...	ORPHA:710
Fetal Akinesia Deformation Sequence 4	Retrognathia, 11 pairs of ribs, Low-set ears, High palate, Camptodactyly, Arthrogryposis multiple...	OMIM:618393
Lamb-Shaffer Syndrome	Fused cervical vertebrae, Scoliosis, Thoracic kyphosis, Micrognathia, Broad nasal tip, Thick verm...	ORPHA:530983
9Q33.3Q34.11 Microdeletion Syndrome	Highly arched eyebrow, Abnormal pinna morphology, Spastic tetraparesis, Epistaxis, Dysphagia, Tel...	ORPHA:495818
Renal-Hepatic-Pancreatic Dysplasia 2	Situs inversus totalis, Enlarged kidney, Hepatomegaly, Truncus arteriosus, Cholestasis, Hypertrop...	OMIM:615415
Sick Sinus Syndrome 2	Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P...	OMIM:163800
Klippel-Feil Syndrome 2, Autosomal Recessive	Fused cervical vertebrae, Cervical C2/C3 vertebral fusion, Sensorineural hearing impairment, Abno...	OMIM:214300
Hajdu-Cheney Syndrome	Delayed puberty, Decreased skull ossification, Kyphosis, Intestinal malrotation, Biconcave verteb...	ORPHA:955
Lethal Osteosclerotic Bone Dysplasia	Short nose, Retrognathia, Gingival fibromatosis, Respiratory distress, Anteverted nares, Gingival...	ORPHA:1832
Autosomal Dominant Spondylocostal Dysostosis	Short thorax, Missing ribs, Abnormal rib morphology, Cleft palate, Posterior rib fusion	ORPHA:1797
Epilepsy, Idiopathic Generalized, Susceptibility To, 18	Bradycardia	OMIM:619521
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Syncope, Ventricular tachycardia, Polymorphic ventricular tachycardia, Bradycardia	OMIM:611938
Nephronophthisis 2	Pulmonary insufficiency, Enlarged kidney, Nephronophthisis, Chronic tubulointerstitial nephritis,...	OMIM:602088
Spondylocostal Dysostosis 1, Autosomal Recessive	Death in infancy, Block vertebrae, Vertebral fusion, Rib fusion	OMIM:277300
Fraxe Intellectual Disability	Agitation, Hyperactivity, Prominent ear helix, Recurrent hand flapping, Compulsive behaviors, Imp...	ORPHA:100973
Aarskog-Scott Syndrome	Orofacial cleft, Low-set, posteriorly rotated ears, Delayed eruption of teeth, Genu recurvatum, A...	ORPHA:915
Mucopolysaccharidosis Type 1	Chronic otitis media, Sensorineural hearing impairment, Everted lower lip vermilion, Microdontia,...	ORPHA:579
Joubert Syndrome	Orofacial cleft, Aganglionic megacolon, Oculomotor apraxia, Encephalocele, Highly arched eyebrow,...	ORPHA:475
Chilton-Okur-Chung Neurodevelopmental Syndrome	Bilateral ptosis, Highly arched eyebrow, Sensorineural hearing impairment, Septo-optic dysplasia,...	OMIM:619841
Isotretinoin-Like Syndrome	Aplasia/Hypoplasia of the inner ear, Gastroesophageal reflux, Hydrocephalus, Anteverted nares, Mi...	ORPHA:2306
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss	Optic atrophy, Bradykinesia, Wolff-Parkinson-White syndrome, Sensorineural hearing impairment, In...	OMIM:601338
Multiple Synostoses Syndrome 1	Short lower limbs, Short humerus, Hypoplastic spinal processes, Hypoplasia of the ulna, Short mid...	OMIM:186500
Congenital Fiber-Type Disproportion Myopathy	Ankle flexion contracture, Weakness of facial musculature, Hypoplasia of the musculature, Type 1 ...	ORPHA:2020
Severe Oculo-Renal-Cerebellar Syndrome	Mandibular prognathia, Scoliosis, Macrotia, Wide mouth, Proteinuria, Large earlobe, Joint hypermo...	ORPHA:2715
Joubert Syndrome With Oculorenal Defect	Aganglionic megacolon, Low-set, posteriorly rotated ears, Encephalocele, Highly arched eyebrow, A...	ORPHA:2318
Short Stature-Wormian Bones-Dextrocardia Syndrome	Renal hypoplasia/aplasia, Anterior hypopituitarism, Delayed eruption of teeth, Broad alveolar rid...	ORPHA:2863
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Bradykinesia, Babinski sign, Limb fasciculations, Limb ataxia, Apraxia, Resting tremor, Incoordin...	OMIM:615157
Cutis Laxa, Autosomal Recessive, Type Iic	Dental crowding, Nephrocalcinosis, Long philtrum, Entropion, Aortic regurgitation, Anteverted nar...	OMIM:617402
Autism	Inflexible adherence to routines, Restrictive behavior, Motor stereotypy	OMIM:209850
Autism, Susceptibility To, 8	Inflexible adherence to routines, Restrictive behavior, Motor stereotypy	OMIM:607373
Ciliary Dyskinesia, Primary, 33	Conductive hearing impairment, Recurrent otitis media	OMIM:616726
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Dislocated radial head, Microtia, Delayed skeletal maturation, Patellar dislocation, Hip dislocat...	OMIM:620663
Glycogen Storage Disease Of Heart, Lethal Congenital	Congestive heart failure, Enlarged kidney, Bradycardia, ST segment elevation, Cardiomyopathy, Hyp...	OMIM:261740
Atelosteogenesis, Type I	Midface retrusion, Short nose, Stillbirth, Thoracic platyspondyly, Fused cervical vertebrae, Ence...	OMIM:108720
Myopathy, Myofibrillar, 7	Shoulder flexion contracture, Type 2 muscle fiber predominance, Elbow flexion contracture, Z-band...	OMIM:617114
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypomagnesemia	ORPHA:2239
Prolidase Deficiency	Reduced bone mineral density, Genu valgum, Abnormality of the middle ear, Depressed nasal ridge, ...	ORPHA:742
Pheochromocytoma/Paraganglioma Syndrome 1	Vagal paraganglioma, Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Carotid paraganglio...	OMIM:168000
Myopathy, Myofibrillar, 1	Bradycardia, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Thi...	OMIM:601419
Hypophosphatasia, Childhood	Carious teeth, Rachitic rosary, Premature loss of primary teeth, Craniosynostosis, Bowing of the ...	OMIM:241510
Waardenburg Syndrome, Type 2E	Sensorineural hearing impairment, Dilated vestibule of the inner ear, Pectus excavatum, Anosmia, ...	OMIM:611584
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Bradycardia, Spasticity, Hypertrophic cardiomyopathy, Death in infancy, Hearing impairment, Apnea...	OMIM:616277
Orofaciodigital Syndrome Xvi	Short palpebral fissure, Retrognathia, Oculomotor apraxia, Low-set ears, Ptosis, Apnea, Ataxia, H...	OMIM:617563
Spinocerebellar Ataxia Type 20	Bradykinesia, Isometric tremor, Tremor by anatomical site, Vertigo, Gait ataxia, Intention tremor...	ORPHA:101110
Treacher Collins Syndrome 2	Retrognathia, Microtia, Choanal atresia, Fusion of middle ear ossicles, Conductive hearing impair...	OMIM:613717
Genitopatellar Syndrome	Wide nose, Delayed eruption of teeth, Gastroesophageal reflux, Low-set ears, Prominent nose, Hear...	ORPHA:85201
2Q24 Microdeletion Syndrome	Low-set, posteriorly rotated ears, Short philtrum, Abnormal oral frenulum morphology, Camptodacty...	ORPHA:1617
Autosomal Recessive Multiple Pterygium Syndrome	Popliteal pterygium, Axillary pterygium, Orofacial cleft, Multiple pterygia, Pterygium, Finger sy...	ORPHA:2990
Non-Distal Duplication 10Q	Short nose, Low-set, posteriorly rotated ears, High palate, Everted lower lip vermilion, Downslan...	ORPHA:1695
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hematemesis, Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Pol...	OMIM:263200
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Aplasia/Hypoplasia of the eyebrow, Low-set, posteriorly rotated ears, Respiratory distress, Synot...	ORPHA:990
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Short nose, Aganglionic megacolon, Sacral dimple, Short philtrum, Hydrocephalus, Mandibular progn...	OMIM:613603
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial hyperostosis, Diaphyseal sclerosis, Facial diplegia, Cortical sclerosis, Death in ad...	OMIM:122860
14Q11.2 Microdeletion Syndrome	Short nose, Low-set, posteriorly rotated ears, Highly arched eyebrow, Blepharophimosis, Exaggerat...	ORPHA:261120
Sudden Cardiac Failure, Infantile	Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Myocardial fibro...	OMIM:617222
Spondylometaphyseal Dysplasia, Type A4	Narrow greater sciatic notch, Sclerotic humeral metaphysis, Costochondral joint sclerosis, Enlarg...	OMIM:609052
Pierre Robin Syndrome	Micrognathia, Pierre-Robin sequence, Glossoptosis, Cleft palate	OMIM:261800
Cardiomyopathy, Familial Hypertrophic, 6	Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril...	OMIM:600858
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Rigidity, Dysphagia, Long philtrum, Optic atrophy, Babinski sign, Hypertonia, Exaggerated startle...	OMIM:617527
Metatropic Dysplasia	Narrow greater sciatic notch, Short ribs, Long coccyx, Cupped ribs, Flared iliac wing, Flat aceta...	OMIM:156530
Congenital Myopathy 19	Facial hypotonia, High palate, Low-set ears, Depressed nasal ridge, Congenital contracture, Heari...	OMIM:618578
Whistling Face Syndrome, Recessive Form	Kyphoscoliosis, Midface retrusion, Trismus, Shoulder flexion contracture, Elbow flexion contractu...	OMIM:277720
Mandibulofacial Dysostosis With Alopecia	Hydroureter, Stenosis of the external auditory canal, Microtia, Dental crowding, Low-set ears, Gl...	OMIM:616367
Cutis Laxa, Autosomal Recessive, Type Iid	Congestive heart failure, Retrognathia, Entropion, Blepharophimosis, Right bundle branch block, L...	OMIM:617403
Amyotrophic Lateral Sclerosis 27, Juvenile	Tongue fasciculations, Scapular winging, Intrinsic hand muscle atrophy, Fiber type grouping, Gene...	OMIM:620285
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Short nose, Hypoplasia of the zygomatic bone, Malar flattening, Depressed nasal bridge	ORPHA:2835
Retinoschisis 1, X-Linked, Juvenile	Retinal detachment, Retinal atrophy, Retinoschisis, Peripheral cystoid retinal degeneration, Reti...	OMIM:312700
Glanzmann Thrombasthenia	Spontaneous hematomas, Gastrointestinal hemorrhage, Purpura, Spontaneous, recurrent epistaxis, Gi...	ORPHA:849
Proboscis Lateralis	Optic nerve hypoplasia, Abnormal eyebrow morphology, Ureteral agenesis, Long philtrum, Duplicatio...	ORPHA:141099
Tetraamelia Syndrome 1	Congenital diaphragmatic hernia, Single naris, Hydrocephalus, Low-set ears, Choanal atresia, Anal...	OMIM:273395
Metatropic Dysplasia	Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal cortical bone morphology...	ORPHA:2635
Semilobar Holoprosencephaly	Solitary median maxillary central incisor, Abnormality of the endocrine system, Sensorineural hea...	ORPHA:220386
Alobar Holoprosencephaly	Solitary median maxillary central incisor, Abnormality of the endocrine system, Sensorineural hea...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Solitary median maxillary central incisor, Abnormality of the endocrine system, Sensorineural hea...	ORPHA:93926
Lobar Holoprosencephaly	Solitary median maxillary central incisor, Abnormality of the endocrine system, Sensorineural hea...	ORPHA:93924
Myh9-Related Disease	Neutrophil inclusion bodies, Giant platelets, Renal insufficiency, Sensorineural hearing impairme...	ORPHA:182050
Proximal 16P11.2 Microdeletion Syndrome	Congenital diaphragmatic hernia, Pyloric stenosis, Hand polydactyly, Cleft palate, Rib fusion, Cr...	ORPHA:261197
Congenital Neuronal Ceroid Lipofuscinosis	Aplasia/Hypoplasia of the external ear, Spasticity, Low-set ears, Apnea, Wide nasal bridge	ORPHA:168486
Congenital Megacalycosis	Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph...	ORPHA:93109
Giant Cell Arteritis	Optic atrophy, Hematuria, Recurrent pharyngitis, Mediastinal lymphadenopathy, Diabetes insipidus,...	ORPHA:397
Basal Cell Nevus Syndrome 1	Polydactyly, Short 4th metacarpal, Short distal phalanx of the thumb, Odontogenic keratocysts of ...	OMIM:109400
Congenital Heart Block	Congestive heart failure, Bradycardia, Prolonged QTc interval, Gallop rhythm, Patent foramen oval...	ORPHA:60041
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome	Chronic otitis media, Protruding ear, Oral-pharyngeal dysphagia, Anteverted nares, Tremor, Low-se...	ORPHA:480907
Lujan-Fryns Syndrome	Short philtrum, Dental crowding, Scoliosis, Low-set ears, Abnormality of the dentition, High pala...	ORPHA:776
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia	Joint contracture of the 5th finger, Microtia, High palate, Cutaneous mastocytosis, Short foot, C...	OMIM:248910
Exudative Vitreoretinopathy 7	Retinal detachment, Exudative vitreoretinopathy, Retinal degeneration, Retinal hole, Retinal fold	OMIM:617572
Intellectual Developmental Disorder, Autosomal Dominant 26	Highly arched eyebrow, Cerebral palsy, Wide mouth, Hypertonia, Short philtrum, Anteverted nares, ...	OMIM:615834
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Hypertension, Abnormal circulating renin, Nephrolithiasis, Pulmonary arterial hypertension, Cereb...	ORPHA:369929
Holoprosencephaly 3	Abnormality of the nose, Central diabetes insipidus, Solitary median maxillary central incisor, P...	OMIM:142945
Brooke-Spiegler Syndrome	Nodular changes affecting the eyelids, Abnormal bleeding, Abnormal auditory canal morphology, Fac...	ORPHA:79493
Tenorio Syndrome	Recurrent aphthous stomatitis, Wide nose, Telecanthus, Gastroesophageal reflux, Anteverted nares,...	OMIM:616260
T-Cell Immunodeficiency With Thymic Aplasia	Chronic otitis media, Lymphadenopathy, Diarrhea, Thyroiditis, Recurrent urinary tract infections,...	ORPHA:83471
Lethal Congenital Contracture Syndrome Type 1	Abnormal cortical bone morphology, Abnormal hip bone morphology, Slender long bone, Limitation of...	ORPHA:1486
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Sick sinus syndrome, Patent foramen ovale, Bradycardia	OMIM:617182
Charge Syndrome	Delayed puberty, Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Anosmia, T...	OMIM:214800
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr...	OMIM:616117
Wiskott-Aldrich Syndrome	Chronic otitis media, Hematemesis, Spontaneous hematomas, Chronic diarrhea, Sinusitis, Epistaxis,...	ORPHA:906
Cataract-Intellectual Disability-Hypogonadism Syndrome	Midface retrusion, Low-set, posteriorly rotated ears, Short philtrum, Tooth malposition, Abnormal...	ORPHA:1387
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Generalized joint hypermobility, Cervical C2/C3 vertebral fusion, Shoulder dislocatio...	OMIM:618000
Thakker-Donnai Syndrome	Congenital diaphragmatic hernia, Cervical C2/C3 vertebral fusion, Rectovaginal fistula, Anteverte...	ORPHA:1780
Gaucher Disease, Perinatal Lethal	Retrognathia, Everted upper lip vermilion, Microtia, Everted lower lip vermilion, Opisthotonus, D...	OMIM:608013
Smith-Magenis Syndrome	Orofacial cleft, Everted upper lip vermilion, Abnormal middle ear morphology, Abnormal nerve cond...	OMIM:182290
Joubert Syndrome With Hepatic Defect	Orofacial cleft, Occipital encephalocele, Multicystic kidney dysplasia, Renal insufficiency, High...	ORPHA:1454
Orofaciodigital Syndrome Type 1	Chronic otitis media, Reduced bone mineral density, Broad alveolar ridges, Accessory oral frenulu...	ORPHA:2750
Aredyld Syndrome	Advanced eruption of teeth, Abnormal tragus morphology, Low-set, posteriorly rotated ears, Cranio...	ORPHA:1133
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	High, narrow palate, Hypoplasia of the musculature, Pectus excavatum, Camptodactyly of finger, Lo...	ORPHA:1101
Renal-Hepatic-Pancreatic Dysplasia 1	Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Aortic valve stenosis, ...	OMIM:208540
Catel-Manzke Syndrome	Low insertion of columella, Glossoptosis, Short metacarpal, Bifid uvula, Short humerus, Narrow na...	OMIM:616145
Epilepsy, Progressive Myoclonic, 9	Generalized amyotrophy, Short thumb, Microglossia	OMIM:616540
Lower Limb Malformation-Hypospadias Syndrome	Hypospadias, Low-set, posteriorly rotated ears, Abnormality of the ureter, Macrotia, Abnormality ...	ORPHA:2487
Treacher Collins Syndrome 4	Conductive hearing impairment	OMIM:618939
Autosomal Dominant Spastic Paraplegia Type 3	Spastic gait, Babinski sign, Bradykinesia, Distal lower limb muscle weakness, Lower limb spastici...	ORPHA:100984
Burn-Mckeown Syndrome	Bifid uvula, Short philtrum, Choanal atresia, Hearing impairment, Cleft palate, Protruding ear, H...	OMIM:608572
Wild Type Attr Amyloidosis	Congestive heart failure, Hepatomegaly, Bradycardia, Atrial fibrillation, Renal insufficiency, Hy...	ORPHA:330001
Coenzyme Q10 Deficiency, Primary, 7	Hypoplastic left heart, Ventricular septal defect, Hypertrophic cardiomyopathy, Bradycardia	OMIM:616276
Apert Syndrome	Chronic otitis media, Limited elbow movement, Midface retrusion, Bifid uvula, Craniosynostosis, N...	OMIM:101200
Ispd-Related Limb-Girdle Muscular Dystrophy R20	Proximal muscle weakness in upper limbs, Calf muscle pseudohypertrophy, Hypoglycosylation of alph...	ORPHA:352479
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Sensorineural hearing impairment, Truncal ataxia, Gait ataxia, Hearing impairment, Macrotia, Rena...	OMIM:616817
Peroxisome Biogenesis Disorder 2A (Zellweger)	Optic nerve dysplasia, Palpebral edema, Death in childhood, Polycystic kidney dysplasia, Abnormal...	OMIM:214110
Verheij Syndrome	Retrognathia, Short nose, Anteverted nares, Scoliosis, Hemivertebrae, Branchial cyst, Renal cyst,...	OMIM:615583
Afibrinogenemia, Congenital	Hematemesis, Abnormal bleeding, Epidural hemorrhage, Death in childhood, Gingival bleeding, Death...	OMIM:202400
Chromosome 16P13.3 Duplication Syndrome	Midface retrusion, Tracheobronchomalacia, Microtia, Microdontia, Bifid uvula, Wide mouth, Long ph...	OMIM:613458
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Elevated circulating creatine kinase concentration	OMIM:615883
Grant Syndrome	Abnormal palate morphology, Abnormal cortical bone morphology, Joint dislocation, Narrow chest, J...	ORPHA:2097
Joubert Syndrome With Ocular Defect	Orofacial cleft, Aganglionic megacolon, Low-set, posteriorly rotated ears, Oculomotor apraxia, En...	ORPHA:220493
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Atresia of the external auditory canal, Conductive hearing impairment, Aplasia/Hypoplasia of the ...	ORPHA:3236
Urban-Rogers-Meyer Syndrome	Flexion contracture of toe, Hypoplasia of penis, Aplasia/Hypoplasia of the earlobes, Abnormality ...	ORPHA:3409
Beta-Mercaptolactate Cysteine Disulfiduria	Low-set, posteriorly rotated ears, Anteverted nares, High palate, Abnormality of the ureter, Micr...	ORPHA:1035
Bardet-Biedl Syndrome 19	Hearing impairment, Renal hypoplasia, Obesity, Hydronephrosis, Renal insufficiency	OMIM:615996
Elsahy-Waters Syndrome	Midface retrusion, Cervical C2/C3 vertebral fusion, Bifid nasal tip, Bifid uvula, Broad philtrum,...	OMIM:211380
Cardiomyopathy, Dilated, 1D	Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco...	OMIM:601494
Gorlin Syndrome	Orofacial cleft, Odontogenic keratocysts of the jaw, Abnormal rib morphology, Rib fusion, Arachno...	ORPHA:377
Crouzon Syndrome	Narrow palate, Midface retrusion, Hydrocephalus, Choanal atresia, Multiple suture craniosynostosi...	ORPHA:207
Renal Dysplasia	Pelvic mass, Enlarged kidney, Urinary incontinence, Renal hypoplasia/aplasia, Abnormal nephron mo...	ORPHA:93108
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy	Fused cervical vertebrae, Scoliosis, Anal atresia, Prominent metopic ridge, Thoracic hemivertebra...	OMIM:309620
Mesomelic Dysplasia, Kantaputra Type	Abnormal fibula morphology, Tarsal synostosis, Clinodactyly of the 5th finger, Cubitus valgus, Du...	ORPHA:1836
Glycogen Storage Disease Iv	Cirrhosis, Bradycardia, Tubulointerstitial fibrosis, Cardiomyopathy, Ascites, Portal hypertension...	OMIM:232500
Mitochondrial Complex I Deficiency, Nuclear Type 13	Hepatomegaly, Cardiac arrest, Hypertrophic cardiomyopathy, Bradycardia	OMIM:618235
Spondylocostal Dysostosis 5	Pectus carinatum, Missing ribs, Supernumerary ribs, Posterior rib fusion, Vertebral fusion	OMIM:122600
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Abnormal palate morphology, Clinodactyly of the 5th finger, Abnormal hip bone morphology, Craniof...	ORPHA:3068
Orofaciodigital Syndrome Type 6	Renal hypoplasia/aplasia, Highly arched eyebrow, Abnormal oral frenulum morphology, Ataxia, Tongu...	ORPHA:2754
20P12.3 Microdeletion Syndrome	Microtia, Narrow mouth, Full cheeks, Hypoplasia of the maxilla, Malar flattening, Long philtrum, ...	ORPHA:261295
Tarp Syndrome	Small earlobe, Glossoptosis, Abnormal duodenum morphology, Tongue nodules, Alveolar ridge overgro...	ORPHA:2886
Neutropenia, Severe Congenital, 9, Autosomal Dominant	3-Methylglutaconic aciduria, Splenomegaly	OMIM:619813
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Short-segment aganglionic megacolon, Sensorineural hearing impairment, Anosmia, Abnormal autonomi...	OMIM:609136
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Enlarged kidney, Ureteral duplication, Death in infancy, Narrow palate, Polycystic kidney dysplas...	OMIM:608836
Primary Familial Polycythemia	Abnormal bleeding, Exertional dyspnea, Vertigo, Dyspnea, Polycythemia, Epistaxis, Abnormal hemogl...	ORPHA:90042
Familial Expansile Osteolysis	Conductive hearing impairment	OMIM:174810
Cardiomyopathy, Familial Hypertrophic, 27	Congestive heart failure, Ventricular septal hypertrophy, Prolonged QT interval, Concentric hyper...	OMIM:618052
Cortical Dysplasia, Complex, With Other Brain Malformations 15	Midface retrusion, Hypoplasia of the maxilla, Widely-spaced incisors, Smooth philtrum, Protruding...	OMIM:618737
Mcdonough Syndrome	Abnormal palate morphology, Short palpebral fissure, Low-set, posteriorly rotated ears, Short phi...	ORPHA:2471
Hypereosinophilic Syndrome, Idiopathic	Endocardial fibrosis, Hepatomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Sple...	OMIM:607685
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Thin vermilion border, Short philtrum, Premature loss of teeth, Multiple small vertebral fracture...	OMIM:156510
Split-Hand/Foot Malformation 3	Renal hypoplasia, Abnormal pinna morphology	OMIM:246560
Perlman Syndrome	Short nose, High, narrow palate, Hyperinsulinemia, Retrognathia, Abnormal pancreas morphology, Hy...	ORPHA:2849
Diaphragmatic Hernia 5, X-Linked	Congenital diaphragmatic hernia, Neonatal death	OMIM:306950
Cardiac-Urogenital Syndrome	Enlarged kidney, Mesocardia, Aplasia of the uterus, Coronary sinus enlargement, Bifid scrotum, Dy...	OMIM:618280
Familial Hypofibrinogenemia	Abnormal bleeding, Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage	ORPHA:101041
Familial Dysfibrinogenemia	Abnormal bleeding, Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage	ORPHA:98881
Hadziselimovic Syndrome	Low-set ears, Failure to thrive, Posteriorly rotated ears, Renal hypoplasia	OMIM:612946
Kdm5C-Related Syndromic X-Linked Intellectual Disability	High palate, Hypoplasia of the maxilla, Camptodactyly of finger, Decreased testicular size, Promi...	ORPHA:85279
Kbg Syndrome	Anteverted nares, Oligodontia, Bilateral conductive hearing impairment, Scoliosis, Thoracic kypho...	ORPHA:2332
Cooper-Jabs Syndrome	Congenital diaphragmatic hernia, Reduced bone mineral density, Proximal placement of thumb, Abnor...	ORPHA:1488
Carpenter Syndrome 2	Retrognathia, Highly arched eyebrow, Sensorineural hearing impairment, Upslanted palpebral fissur...	OMIM:614976
Exudative Vitreoretinopathy 3	Retinal exudate, Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold	OMIM:605750
Orofaciodigital Syndrome Xvii	Decreased body weight, Low-set ears, Hearing impairment, Renal hypoplasia, Micropenis	OMIM:617926
Myasthenic Syndrome, Congenital, 10	Distal amyotrophy, Proximal amyotrophy, Tongue atrophy, Weakness of facial musculature	OMIM:254300
Facial Paresis, Hereditary Congenital, 3	Short nose, Short philtrum, Sensorineural hearing impairment, Anteverted nares, Low-set ears, Hig...	OMIM:614744
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract	Spasticity, Apneic episodes in infancy, Broad nasal tip, Flexion contracture	ORPHA:500545
Lateral Meningocele Syndrome	Dental crowding, Kyphosis, Biconcave vertebral bodies, Short nasal bridge, Umbilical hernia, Join...	OMIM:130720
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia	OMIM:617173
Parkinson Disease 15, Autosomal Recessive Early-Onset	Bradykinesia, Babinski sign, Hypomimic face, Scissor gait, Lower limb spasticity, Abnormality of ...	OMIM:260300
Lowry-Maclean Syndrome	Congenital diaphragmatic hernia, Retrognathia, Short nasal bridge, Craniosynostosis, Delayed erup...	ORPHA:2409
Cardiofaciocutaneous Syndrome	Short nose, Genu valgum, Cubitus valgus, Low-set, posteriorly rotated ears, Hydrocephalus, Anteve...	ORPHA:1340
Denys-Drash Syndrome	Ambiguous genitalia, male, Enlarged kidney, Gonadal dysgenesis, Hypertension, Focal segmental glo...	OMIM:194080
Congenital Myopathy 14	Knee flexion contracture, Elbow flexion contracture, High palate, Death in infancy, Increased var...	OMIM:618414
Bernard-Soulier Syndrome	Purpura, Abnormal bleeding, Gastrointestinal hemorrhage, Giant platelets, Gingival bleeding, Meno...	OMIM:231200
8Q22.1 Microdeletion Syndrome	Abnormal nostril morphology, Abnormal antihelix morphology, Abnormal pinna morphology, Low-set ea...	ORPHA:178303
Congenital Factor Ii Deficiency	Prolonged prothrombin time, Abnormal bleeding, Cephalohematoma, Anemia, Excessive bleeding from s...	ORPHA:325
Meckel Syndrome, Type 8	Enlarged kidney, Polycystic kidney dysplasia, Pericardial effusion, Hyperechogenic kidneys, Ambig...	OMIM:613885
Frontometaphyseal Dysplasia 2	Delayed puberty, Dislocated radial head, Sensorineural hearing impairment, Abnormal pinna morphol...	OMIM:617137
Familial Hyperaldosteronism Type Iii	Prolonged QT interval, Hypercalciuria, Hypertension, Abnormal circulating renin, Glucocortocoid-i...	ORPHA:251274
Isolated Pierre Robin Syndrome	Micrognathia, Cleft palate, Glossoptosis	ORPHA:718
Progressive Supranuclear Palsy-Corticobasal Syndrome	Bradykinesia, Limb apraxia, Apraxia, Respiratory distress, Progressive extrapyramidal muscular ri...	ORPHA:240103
Intellectual Developmental Disorder, Autosomal Dominant 23	Hypospadias, Dental crowding, Anteverted nares, Low-set ears, Upslanted palpebral fissure, Synoph...	OMIM:615761
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Hyperactivity, Tremor, Low-set ears, Motor stereotypy, Self-injurious behavior, Bruxism, Paroxysm...	OMIM:618718
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus	Atresia of the external auditory canal, Conductive hearing impairment	OMIM:133705
Timothy Syndrome	Prolonged QT interval, Cardiomegaly, Bradycardia, Patent foramen ovale, Pulmonary arterial hypert...	OMIM:601005
Spinal Muscular Atrophy, Type Iv	Tongue fasciculations, Calf muscle hypertrophy, Rimmed vacuoles, Spinal muscular atrophy, Muscle ...	OMIM:271150
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Abnormality of the nose, Bradykinesia, Hypomimic face, Limb hypertonia, Tremor, Cerebral palsy, P...	ORPHA:70594
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Optic atrophy, Abnormal palate morphology, Short nose, Hypertonia, Gastroesophageal reflux, Narro...	ORPHA:1495
Pancreatic Agenesis-Holoprosencephaly Syndrome	Semilobar holoprosencephaly, Solitary median maxillary central incisor, Abnormal pinna morphology...	ORPHA:556955
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Pectus excavatum, Abnormal rib morphology, Hypoplastic distal segments of scapulae, Pierre-Robin ...	OMIM:602196
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Abnormal seventh cranial physiology, Lower cranial nerve dysfunction, Abnormal cranial nerve phys...	ORPHA:90117
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypokalemia	OMIM:620152
Microphthalmia, Syndromic 12	Congenital diaphragmatic hernia, Retrognathia, Intestinal malrotation, Micrognathia, Cleft palate...	OMIM:615524
Attrv30M Amyloidosis	Cardiomegaly, Cardiomyopathy, Abnormal renal physiology, Arrhythmia, Atrioventricular block, Neph...	ORPHA:85447
Plaa-Associated Neurodevelopmental Disorder	Optic atrophy, Short nose, Low-set, posteriorly rotated ears, Limb hypertonia, Abnormality of ext...	ORPHA:521426
Autosomal Dominant Progressive External Ophthalmoplegia	Exertional dyspnea, Gastroparesis, Facial diplegia, Gait ataxia, Rigidity, Nocturia, Dysphagia, A...	ORPHA:254892
Linear Iga Dermatosis	Oral ulcer, Renal neoplasm, Epistaxis, Inflammation of the large intestine	ORPHA:46488
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Renal hypoplasia, Low-set ears, Unilateral renal agenesis, Chronic kidney disease	OMIM:617661
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly	OMIM:162830
Autosomal Dominant Centronuclear Myopathy	Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, Thin ribs, Abnormality of the f...	ORPHA:169189
Benign Paroxysmal Torticollis Of Infancy	Vertigo, Ataxia, Abnormal head movements, Torticollis	ORPHA:71518
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Thin vermilion border, Short nose, Hypertonia, Hypospadias, Hydrocephalus, Anteverted nares, Micr...	ORPHA:171839
Klippel-Feil Syndrome 1, Autosomal Dominant	Mixed hearing impairment, Unilateral renal agenesis, Cervical C2/C3 vertebral fusion, Congenital ...	OMIM:118100
Immune Thrombocytopenia	Purpura, Gastrointestinal hemorrhage, Hematuria, Petechiae, Gingival bleeding, Epistaxis, Cerebra...	ORPHA:3002
Autosomal Recessive Robinow Syndrome	Abnormal hip bone morphology, Sandal gap, Pectus carinatum, Pectus excavatum, Death in infancy, B...	ORPHA:1507
Autosomal Recessive Spastic Paraplegia Type 77	Bradykinesia, Detrusor sphincter dyssynergia, Babinski sign, Urinary incontinence, Retrognathia, ...	ORPHA:466722
Congenital Factor V Deficiency	Spontaneous hematomas, Gastrointestinal hemorrhage, Hematuria, Post-partum hemorrhage, Gingival b...	ORPHA:326
Keppen-Lubinsky Syndrome	Hypertonia, Short philtrum, Narrow nasal bridge, Gingival overgrowth, Prominent nasal tip, High p...	ORPHA:435628
Acitretin/Etretinate Embryopathy	Aplasia/hypoplasia involving bones of the upper limbs, Bradycardia, Hypoplastic nasal septum, Ant...	ORPHA:40366
Charcot-Marie-Tooth Disease, Type 4D	Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p...	OMIM:601455
Ravine Syndrome	Spasticity, Apnea, Abnormal auditory evoked potentials, Ataxia	ORPHA:99852
Caribbean Parkinsonism	Bradykinesia, Orthostatic hypotension, Apraxia, Abnormal autonomic nervous system physiology, EMG...	ORPHA:97355
Spinocerebellar Ataxia, Autosomal Recessive 32	Bradykinesia, Limb ataxia, Hypomimic face, Abnormal nerve conduction velocity, Torticollis, Gait ...	OMIM:619862
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Microdontia of primary teeth, Bifid ribs, Narrow chest, Hyperextensibility of the finger joints, ...	OMIM:213980
Congenitally Corrected Transposition Of The Great Arteries	Mesocardia, Bradycardia, Pulmonic stenosis, Arrhythmia, Abnormal heart morphology, Discordant atr...	ORPHA:216694
Renpenning Syndrome	Abnormal thumb morphology, High, narrow palate, Clinodactyly of the 5th finger, Short philtrum, N...	ORPHA:3242
Congenital Factor Xiii Deficiency	Spontaneous hematomas, Post-partum hemorrhage, Prolonged bleeding following circumcision, Epistax...	ORPHA:331
Cardiospondylocarpofacial Syndrome	Congenital diaphragmatic hernia, Hypoplastic nasal tip, Delayed skeletal maturation, Wide mouth, ...	OMIM:157800
Symphalangism With Multiple Anomalies Of Hands And Feet	Conductive hearing impairment	ORPHA:3246
Myotonia With Skeletal Abnormalities And Mental Retardation	Genu valgum, Bell-shaped thorax, Skeletal muscle hypertrophy, Firm muscles, Pectus carinatum, Irr...	OMIM:255710
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Optic atrophy, Short nose, Gastroesophageal reflux, Slender nose, Low-set ears, Constipation, Mac...	OMIM:615419
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Semilobar holoprosencephaly, Diabetes insipidus, Sensorineural hearing impairment, Microtia, Low-...	OMIM:618500
Carnitine-Acylcarnitine Translocase Deficiency	Hepatomegaly, Dicarboxylic aciduria, Bradycardia, Ventricular hypertrophy, Cardiomyopathy, Cardia...	OMIM:212138
Auriculocondylar Syndrome 3	Stenosis of the external auditory canal, Bilateral conductive hearing impairment, Question mark ear	OMIM:615706
Hemifacial Microsomia With Radial Defects	Atresia of the external auditory canal, Conductive hearing impairment, Microtia	OMIM:141400
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Gastroparesis, Sensorineural hearing impairment, Parkinsonism with favorable response to dopamine...	OMIM:157640
Cleft Velum	Conductive hearing impairment, Recurrent otitis media	ORPHA:99772
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory...	OMIM:125250
Developmental And Epileptic Encephalopathy 63	Conductive hearing impairment, EEG with generalized epileptiform discharges	OMIM:617976
Stickler Syndrome Type 1	Short nose, Platyspondyly, Abnormal vertebral epiphysis morphology, Sensorineural hearing impairm...	ORPHA:90653
Pyruvate Dehydrogenase E1-Alpha Deficiency	Anteverted nares, Flared nostrils, Tremor, Apneic episodes precipitated by illness, fatigue, stre...	OMIM:312170
Usher Syndrome Type 3	Sensorineural hearing impairment, Vestibular hypofunction, Abnormal cochlea morphology, Ataxia	ORPHA:231183
Ablepharon Macrostomia Syndrome	Breast hypoplasia, Thin vermilion border, Hypoplasia of penis, Anteverted nares, Underdeveloped n...	ORPHA:920
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Abnormal metacarpal morphology, Pectus carinatum, Glossoptosis, Pectus excavatum, Cleft palate, O...	ORPHA:166100
Wyburn-Mason Syndrome	Gingival bleeding, Cerebral palsy, Hearing impairment, Hemiparesis, Tinnitus, Epistaxis, Cerebral...	ORPHA:53719
Kyphomelic Dysplasia	Abnormal metaphysis morphology, Lateral clavicle hook, Narrow chest, Short thorax, Flat acetabula...	ORPHA:1801
Autosomal Recessive Distal Osteolysis Syndrome	Midface retrusion, Abnormality of the dentition, Hypoplasia of the maxilla, Broad nasal tip, Oste...	ORPHA:2776
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Short nose, Short palpebral fissure, Recurrent otitis media, Gastroesophageal reflux, Anteverted ...	OMIM:613604
Wilson-Turner Syndrome	Malar prominence, Microtia, Short foot, Micrognathia, Thick eyebrow, Broad nasal tip, Hypogonadot...	ORPHA:3459
Heart Defects-Limb Shortening Syndrome	Abnormal metaphysis morphology, Narrow chest, Abnormal rib morphology, Death in infancy	ORPHA:1354
Distal Limb Deficiencies-Micrognathia Syndrome	Tarsal synostosis, Abnormality of the wrist, Low-set, posteriorly rotated ears, Sensorineural hea...	ORPHA:1307
Robinow Syndrome, Autosomal Recessive 1	Radial deviation of finger, Dislocated radial head, Dental crowding, Pectus excavatum, Tooth agen...	OMIM:268310
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Retrognathia, Dental crowding, Short metacarpal, Long philtrum, Short distal phalanx of finger, A...	OMIM:617157
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Abnormal palate morphology, Abnormal pelvic girdle bone morphology, Abnormal rib morphology, Slen...	ORPHA:1506
Familial Drusen	Granular macular appearance, Macular dystrophy, Peripapillary chorioretinal atrophy, Choroidal ne...	ORPHA:75376
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Rhizomelic leg shortening, Occipital encephalocele, Oculomotor apraxia, Short ribs, Abnormal opti...	ORPHA:397715
Hypomandibular Faciocranial Dysostosis	Midface retrusion, Short nose, Anteverted nares, Maxillozygomatic hypoplasia, Low-set ears, Narro...	ORPHA:1790
Cardiomyopathy, Dilated, 1A	Congestive heart failure, Atrial flutter, Atrial fibrillation, Pericardial effusion, Sinus bradyc...	OMIM:115200
Familial Hyperaldosteronism Type I	Dexamethasone-suppressible primary hyperaldosteronism, Hypertension, Abnormal circulating renin, ...	ORPHA:403
Kaposiform Lymphangiomatosis	Enlarged kidney, Epidural hemorrhage, Anemia, Abnormality of the lymphatic system, Abnormal splee...	ORPHA:464329
Lymphatic Malformation 13	Unilateral deafness	OMIM:620244
Craniofrontonasal Dysplasia	Congenital diaphragmatic hernia, Orofacial cleft, Abnormal clavicle morphology, Clinodactyly of t...	ORPHA:1520
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Sensorineural hearing impairment, Peripheral axonal neuropathy, Facial palsy, Absent brainstem au...	OMIM:617519
Pendred Syndrome	Congenital sensorineural hearing impairment, Abnormal vestibular function, Cochlear malformation	OMIM:274600
Autism Spectrum Disorder Due To Auts2 Deficiency	Bilateral ptosis, Retrognathia, Joint contracture of the 5th finger, Highly arched eyebrow, Cereb...	ORPHA:352490
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Microtia, Microdontia, Ureterocele, Abnormal nasopharynx morphology, Decreased response to growth...	OMIM:129900
Cardiocranial Syndrome, Pfeiffer Type	High, narrow palate, Hypospadias, Low-set, posteriorly rotated ears, Torticollis, Plantar flexion...	ORPHA:2872
Hypoparathyroidism, Familial Isolated, 1	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures	OMIM:146200
Aicardi Syndrome	Intestinal polyposis, Short philtrum, Missing ribs, Rib fusion, Cleft upper lip, Supernumerary ri...	ORPHA:50
Granulomatosis With Polyangiitis	Chronic otitis media, Intestinal obstruction, Gastrointestinal hemorrhage, Sensorineural hearing ...	ORPHA:900
Tako-Tsubo Cardiomyopathy	Prolonged QT interval, Bradycardia, Hypertension, T-wave inversion, Low-output congestive heart f...	ORPHA:66529
Oculoauriculovertebral Spectrum With Radial Defects	Short mandibular rami, Orofacial cleft, Renal hypoplasia/aplasia, Maternal diabetes, Abnormality ...	ORPHA:2549
Poliomyelitis	Stiff neck, Hypoplasia of the musculature, Abnormal skeletal muscle morphology, Upper limb muscle...	ORPHA:2912
Rubinstein-Taybi Syndrome 2	Retrognathia, Highly arched eyebrow, Intestinal malrotation, Narrow palate, Talon cusp, Carious t...	OMIM:613684
Lacrimoauriculodentodigital Syndrome	Mixed hearing impairment, Corneal neovascularization, Hypoplasia of the lacrimal punctum, Sensori...	ORPHA:2363
Mucopolysaccharidosis-Plus Syndrome	Congestive heart failure, Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Anemia...	OMIM:617303
X-Linked Retinal Dysplasia	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia	ORPHA:1852
Primary Pulmonary Hypoplasia	Abnormal hemidiaphragm morphology, Patellar hypoplasia, Low-set ears, Ureteral stenosis, Microgna...	ORPHA:2257
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Congenital diaphragmatic hernia, Abnormal lower lip morphology, Vesicoureteral reflux, Vertebral ...	ORPHA:1166
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Abnormal palate morphology, Abnormal form of the vertebral bodies, Hydrocephalus, Choanal atresia...	ORPHA:93262
Autosomal Dominant Polycystic Kidney Disease	Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis...	ORPHA:730
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Hypoplastic sacrum, Microtia, Microdontia, Ureterocele, Abnormal nasopharynx morphology, Urethral...	OMIM:604292
Mitochondrial Complex I Deficiency, Nuclear Type 39	Perimembranous ventricular septal defect, Anemia, Hypospadias, Hypertrophic cardiomyopathy, Cardi...	OMIM:620135
Gray Platelet Syndrome	Abnormal bleeding, Thrombocytopenia, Epistaxis, Splenomegaly, Bruising susceptibility	ORPHA:721
Cornelia De Lange Syndrome 5	Retrognathia, Highly arched eyebrow, Hypogonadism, Long philtrum, Anteverted nares, Hearing impai...	OMIM:300882
Ciliary Dyskinesia, Primary, 38	Chronic otitis media, Conductive hearing impairment	OMIM:618063
Familial Short Qt Syndrome	Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor...	ORPHA:51083
Koolen-De Vries Syndrome	Ureteral duplication, Everted lower lip vermilion, Microdontia, Kyphosis, Joint hypermobility, Hi...	ORPHA:96169
Microtia	Hypoplastic helices, Unilateral conductive hearing impairment, Microtia, Abnormal pinna morpholog...	ORPHA:83463
Charge Syndrome	Delayed puberty, Abnormal pinna morphology, Microtia, Anosmia, Tracheoesophageal fistula, Umbilic...	ORPHA:138
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Conductive hearing impairment, Recurrent otitis media, Low-set ears	OMIM:616910
6Q16 Microdeletion Syndrome	Retrognathia, Anteverted nares, Microtia, Low-set ears, Abnormal ear morphology, Almond-shaped pa...	ORPHA:171829
Vitamin D-Dependent Rickets, Type 3	Hypocalcemia, Hypophosphatemia	OMIM:619073
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Endocardial fibrosis, Atrial fibrillation, Supraventricular tachycardia, Cardiac arrest, Hypertro...	OMIM:612158
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Stillbirth, Hydranencephaly, Narrow nasal ridge, Anteverted nares, Low-set ears, Renal cyst, Arth...	OMIM:236500
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Ascites, Myofiber disarray, Cardiomegaly, Ventricular septal hypertrophy...	OMIM:115197
Familial Hyperaldosteronism Type Ii	Hypertension, Abnormal circulating renin, Glucocortocoid-insensitive primary hyperaldosteronism, ...	ORPHA:404
Endocardial Fibroelastosis	Abnormal palate morphology, Congestive heart failure, Low-set, posteriorly rotated ears, Anterior...	ORPHA:2022
Bleeding Disorder, Platelet-Type, 19	Spontaneous hematomas, Abnormal bleeding, Anemia, Menorrhagia, Epistaxis, Thrombocytopenia, Macro...	OMIM:616176
Ohdo Syndrome	Thin vermilion border, Short nose, Widely spaced teeth, Blepharophimosis, Stenosis of the externa...	OMIM:249620
Hypertelorism-Microtia-Facial Clefting Syndrome	Atresia of the external auditory canal, Conductive hearing impairment, Microtia	ORPHA:2213
Nabais Sa-De Vries Syndrome, Type 2	Bilateral cleft palate, Microtia, Chorea, Bilateral cleft lip, Anteverted nares, Hemiparesis, Pos...	OMIM:618829
Thrombocytopenia-Absent Radius Syndrome	Fused cervical vertebrae, Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Sc...	ORPHA:3320
Nephronophthisis 3	Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re...	OMIM:604387
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Unilateral deafness	ORPHA:1010
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Chronic otitis media, Narrow palate, High, narrow palate, Type 1 muscle fiber predominance, Darwi...	OMIM:612949
Parkinsonism With Spasticity, X-Linked	Bradykinesia, Babinski sign, Hypomimic face, Resting tremor, Spasticity, Cogwheel rigidity, Parki...	OMIM:300911
Waldenström Macroglobulinemia	Congestive heart failure, Gastrointestinal hemorrhage, Purpura, Normocytic anemia, Lymphadenopath...	ORPHA:33226
Chromosome 3Pter-P25 Deletion Syndrome	Retrognathia, Highly arched eyebrow, Abnormal renal morphology, Long philtrum, Anteverted nares, ...	OMIM:613792
Osteopathia Striata With Cranial Sclerosis	Flexion contracture of toe, Dental crowding, Microtia, Intestinal malrotation, Paranasal sinus hy...	OMIM:300373
Glanzmann Thrombasthenia 1	Gastrointestinal hemorrhage, Purpura, Excessive bleeding from superficial cuts, Abnormal platelet...	OMIM:273800
X-Linked Intellectual Disability, Porteous Type	Short philtrum, Mandibular prognathia, Hypoplasia of the maxilla, Macrotia, Bulbous nose, Cupped ear	ORPHA:93945
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Conductive hearing impairment	OMIM:132450
Craniosynostosis And Dental Anomalies	Chronic otitis media, Narrow palate, Supernumerary tooth, Wide nose, Absent malleus, Delayed erup...	OMIM:614188
Lethal Congenital Contracture Syndrome 5	Thin ribs, Death in infancy, Congenital contracture, Centrally nucleated skeletal muscle fibers, ...	OMIM:615368
Typhoid	Gastrointestinal hemorrhage, Hypertonia, Diarrhea, Tremor, Cardiac arrest, Constipation, Epistaxi...	ORPHA:99745
Myoclonus, Intractable, Neonatal	Chorea, Athetosis, Ptosis, Impaired oral bolus formation, Apnea, Increased variability in muscle ...	OMIM:617235
Roberts-Sc Phocomelia Syndrome	Abnormal pinna morphology, Wrist flexion contracture, Shallow orbits, Short humerus, Absent thumb...	OMIM:268300
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy	Bradykinesia, Decreased nerve conduction velocity, Fasciculations, Spasticity, Rigidity, Ataxia, ...	OMIM:183050
Wildervanck Syndrome	Hearing impairment, Preauricular skin tag, Fused cervical vertebrae, Abnormality of the outer ear	OMIM:314600
Autosomal Recessive Dopa-Responsive Dystonia	Bradykinesia, Babinski sign, Abnormality of extrapyramidal motor function, Gait ataxia, Constipat...	ORPHA:101150
Meacham Syndrome	Blind vagina, Enlarged kidney, Transposition of the great arteries, Dextrocardia, Cardiac total a...	OMIM:608978
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
Williams-Beuren Region Duplication Syndrome	Chronic otitis media, Decreased response to growth hormone stimulation test, Unilateral renal age...	OMIM:609757
Branchiogenic-Deafness Syndrome	Atresia of the external auditory canal, Sensorineural hearing impairment, Mixed hearing impairmen...	OMIM:609166
Spondylocostal Dysostosis 4, Autosomal Recessive	Anal stenosis, Bell-shaped thorax, Short thorax, Ectopic anus, Pectus excavatum, Missing ribs, Bl...	OMIM:613686
Progressive Familial Heart Block, Type Ib	Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ...	OMIM:604559
Otofaciocervical Syndrome	Abnormal antihelix morphology, Atresia of the external auditory canal, Macrotia, Conductive heari...	ORPHA:2792
Mosaic Trisomy 20	Retrognathia, Fused cervical vertebrae, Scoliosis, Vertebral segmentation defect, Kyphosis, Heari...	ORPHA:1724
Cleft Palate, Deafness, And Oligodontia	Bilateral conductive hearing impairment	OMIM:216300
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Attrv122I Amyloidosis	Abnormal atrioventricular conduction, Congestive heart failure, Anemia, Reduced left ventricular ...	ORPHA:85451
Spastic Paraplegia 78, Autosomal Recessive	Bradykinesia, Babinski sign, Resting tremor, Gait ataxia, Spastic paraplegia, Urinary urgency, At...	OMIM:617225
Mogs-Cdg	Hypoventilation, Short palpebral fissure, Optic atrophy, Retrognathia, Wide nose, Respiratory dis...	ORPHA:79330
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Tarsal synostosis, Fused cervical vertebrae, Scoliosis, Cleft palate, Antecubital pterygium, Flex...	OMIM:618469
Birk-Landau-Perez Syndrome	Optic atrophy, Limb ataxia, Stage 3 chronic kidney disease, Tubulointerstitial nephritis, Renal h...	OMIM:617595
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Mohr-Tranebjaerg Syndrome	Optic atrophy, Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing imp...	ORPHA:52368
Renal Coloboma Syndrome	Optic nerve dysplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hearing impairment, R...	ORPHA:1475
Acrocraniofacial Dysostosis	Advanced eruption of teeth, Low-set, posteriorly rotated ears, Short philtrum, Telecanthus, Spina...	ORPHA:949
Usher Syndrome Type 1	Sensorineural hearing impairment, Vestibular hypofunction, Abnormal cochlea morphology, Ataxia	ORPHA:231169
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Impulsivity, Renal hypoplasia, Motor stereotypy, Self-injurious behavior, Cupped ear, Aggressive ...	OMIM:618914
Combined Oxidative Phosphorylation Deficiency 10	Bradycardia, Ascites, Hypertrophic cardiomyopathy, Pericardial effusion, Cardiomegaly	OMIM:614702
Bleeding Disorder, Platelet-Type, 8	Abnormal bleeding, Ecchymosis, Epistaxis, Persistent bleeding after trauma, Bruising susceptibili...	OMIM:609821
Benign Schwannoma	Abnormality of the adrenal glands, Hearing abnormality, Intestinal polyposis, Abnormality of the ...	ORPHA:252164
Intellectual Disability, Birk-Barel Type	Hypomimic face, High, narrow palate, Short philtrum, Narrow nasal bridge, Highly arched eyebrow, ...	ORPHA:166108
Myotubular Myopathy With Abnormal Genital Development	Thin ribs, High palate, Death in infancy, Centrally nucleated skeletal muscle fibers, Neonatal de...	OMIM:300219
Folinic Acid-Responsive Seizures	Optic atrophy, Hypertonia, Respiratory distress, Sensorineural hearing impairment, Chorea, Spasti...	ORPHA:79097
Jeune Syndrome	Abnormal metaphysis morphology, Abnormal clavicle morphology, Narrow chest, Short thorax, Abnorma...	ORPHA:474
Spinocerebellar Ataxia 17	Bradykinesia, Limb ataxia, Urinary incontinence, Apraxia, Chorea, Gait ataxia, Intention tremor, ...	OMIM:607136
Fetal Akinesia Deformation Sequence 2	High palate, Low-set ears, Downslanted palpebral fissures, Cleft palate, Micrognathia, Tented upp...	OMIM:618388
Hypoglossia-Hypodactyly Syndrome	High palate, Narrow mouth, Anal atresia, Death in infancy, Micrognathia, Cleft palate, Aplasia/Hy...	ORPHA:989
Stormorken Syndrome	Abnormal bleeding, Hematuria, Anemia, Short philtrum, Howell-Jolly bodies, Asplenia, Hypoplastic ...	OMIM:185070
Shprintzen-Goldberg Syndrome	Retrognathia, High, narrow palate, Telecanthus, Gastroesophageal reflux, Anteverted nares, Low-se...	ORPHA:2462
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Widening of cervical spinal canal, Fusion of midcervical facet joints, Nemaline bodies, Limb musc...	OMIM:606842
Dystonia, Dopa-Responsive	Bradykinesia, Babinski sign, Torticollis, Resting tremor, Incoordination, Spasticity, Parkinsonis...	OMIM:128230
Factor V And Factor Viii, Combined Deficiency Of, 2	Persistent bleeding after trauma, Menorrhagia, Epistaxis	OMIM:613625
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Renal hypoplasia/aplasia, Low-set, posteriorly rotated ears, Non-midline cleft of the upper lip, ...	ORPHA:1770
Keppen-Lubinsky Syndrome	Hypertonia, Short philtrum, Narrow nasal bridge, Gingival overgrowth, Decreased serum leptin, Hig...	OMIM:614098
Severe Hemophilia A	Gastrointestinal hemorrhage, Cephalohematoma, Epidural hemorrhage, Anemia, Intramuscular hematoma...	ORPHA:169802
Aapoaiv Amyloidosis	Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Atrial flutter, Left bund...	ORPHA:439232
Duane-Radial Ray Syndrome	Pectoralis hypoplasia, Sensorineural hearing impairment, Small thenar eminence, Abnormal nasophar...	OMIM:607323
Chromosome 1P35 Deletion Syndrome	Sensorineural hearing impairment, High palate, Narrow mouth, Almond-shaped palpebral fissure, Hea...	OMIM:617930
Fragile X Tremor/Ataxia Syndrome	Bradykinesia, Urinary incontinence, Resting tremor, Poor fine motor coordination, Dysdiadochokine...	OMIM:300623
Basal Ganglia Calcification, Idiopathic, 1	Bradykinesia, Urinary incontinence, Chorea, Dysdiadochokinesis, Tremor, Athetosis, Rigidity, Park...	OMIM:213600
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Coffin-Siris Syndrome 3	Wide nose, Central diaphragmatic hernia, Joint hypermobility, Anteverted nares, Scoliosis, High p...	OMIM:614608
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar...	ORPHA:3282
Ramon Syndrome	Sensorineural hearing impairment, Conductive hearing impairment	ORPHA:3019
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Bradykinesia, Respiratory distress, Tremor, Parkinsonism with favorable response to dopaminergic ...	ORPHA:240085
Focal Segmental Glomerulosclerosis 7	Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal hypoplasia, Proteinuria, Stage 5 ch...	OMIM:616002
Classic Glucose Transporter Type 1 Deficiency Syndrome	Hypertonia, Paralysis, Apraxia, Chorea, Spasticity, Hemiparesis, Ataxia, Extrapyramidal dyskinesi...	ORPHA:71277
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Abnormal oral cavity morphology, Short philtrum, Hydrocephalus, Stenosis of the external auditory...	ORPHA:1516
Oculoauriculofrontonasal Syndrome	Upper eyelid coloboma, Wide nose, Encephalocele, Microtia, Bifid nasal tip, Narrow mouth, Conduct...	ORPHA:398156
Intellectual Developmental Disorder, Autosomal Dominant 65	Ataxia, Noncommunicating hydrocephalus, Clumsiness, Long philtrum, Short philtrum, Anteverted nar...	OMIM:619320
Intellectual Developmental Disorder, Autosomal Recessive 58	Pica, Motor stereotypy, Self-injurious behavior, Choreoathetosis, Aggressive behavior	OMIM:617270
Severe Congenital Nemaline Myopathy	Abnormality of the diaphragm, Thin ribs, Facial diplegia, Facial palsy, Nemaline bodies, Arthrogr...	ORPHA:171430
Multicentric Carpotarsal Osteolysis Syndrome	Congenital diaphragmatic hernia, Wrist swelling, Ankle swelling, Metacarpal osteolysis, Osteopeni...	OMIM:166300
Schwartz-Jampel Syndrome	Flexion contracture of toe, Everted lower lip vermilion, Wrist flexion contracture, Death in infa...	ORPHA:800
Hereditary Continuous Muscle Fiber Activity	Congenital diaphragmatic hernia, Type 1 muscle fiber predominance	ORPHA:972
Spastic Paraplegia 80, Autosomal Dominant	Bradykinesia, Babinski sign, Limb ataxia, Lower limb spasticity, Urinary urgency, Spastic paraple...	OMIM:618418
Leber Optic Atrophy And Dystonia	Optic atrophy, Bradykinesia, Spasticity, Athetosis, Upper motor neuron dysfunction, Dysphagia, Sk...	OMIM:500001
Smith-Magenis Syndrome	Chronic otitis media, Delayed puberty, Renal hypoplasia/aplasia, Delayed eruption of primary teet...	ORPHA:819
Neu-Laxova Syndrome	Rickets, Muscular dystrophy, Osteopenia, Pterygium, Abnormality of the philtrum, Aplasia/Hypoplas...	ORPHA:2671
Neurological Conditions Associated With Aminoacylase 1 Deficiency	Vomiting, Sensorineural hearing impairment, Apnea, Wide nose	ORPHA:137754
Intellectual Developmental Disorder, Autosomal Recessive 68	Hypoplasia of the maxilla, Protruding ear, Wide nasal bridge, Hydrocephalus	OMIM:618302
Bresek Syndrome	Aganglionic megacolon, Optic nerve hypoplasia, Renal dysplasia, Low-set ears, Vesicoureteral refl...	ORPHA:85284
Mitochondrial Complex I Deficiency, Nuclear Type 6	Optic atrophy, Hypertrophic cardiomyopathy, Vomiting, Apnea, Ataxia, Skeletal muscle atrophy, Lef...	OMIM:618228
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia	OMIM:183350
Adamantinoma	Hypercalcemia	ORPHA:55881
Heme Oxygenase 1 Deficiency	Hematuria, Lymphadenopathy, Hypertension, Asplenia, Chemosis, Nephritis, Epistaxis, Proteinuria, ...	OMIM:614034
Machado-Joseph Disease	Bradykinesia, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Facial-lingual fascicula...	OMIM:109150
Carpenter Syndrome 1	Midface retrusion, Sensorineural hearing impairment, Abnormal pinna morphology, Agenesis of perma...	OMIM:201000
Trisomy 20P	Highly arched eyebrow, Incoordination, Everted lower lip vermilion, Microdontia, Abnormal autonom...	ORPHA:261318
Robin Sequence-Oligodactyly Syndrome	Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Glossoptosis, Abnormality of the ...	ORPHA:3104
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Wide nose, Microtia, Low-set ears, Everted lower lip vermilion, Thick nas...	ORPHA:357175
Autoerythrocyte Sensitization Syndrome	Gastrointestinal hemorrhage, Hematuria, Thrombocytosis, Diarrhea, Vertigo, Intramuscular hematoma...	ORPHA:324636
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Long philtrum, Hip dislocation, Hypospadias, Pelvic kidney, Hearing impairment, Thoracic scoliosi...	ORPHA:508498
Abcd Syndrome	Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ...	OMIM:600501
Spondyloepimetaphyseal Dysplasia, Irapa Type	Abnormal metaphysis morphology, Abnormal carpal morphology, Genu valgum, Short metatarsal, Upper ...	ORPHA:93351
Chromosome 15Q26-Qter Deletion Syndrome	Hypospadias, Blepharophimosis, Low-set ears, Micrognathia, Short middle phalanx of finger, Crypto...	OMIM:612626
Developmental And Epileptic Encephalopathy 61	Optic atrophy, Spasticity, High palate, Apnea, Thick vermilion border, Open mouth	OMIM:617933
Congenital Myopathy 3 With Rigid Spine	Muscular dystrophy, Type 1 and type 2 muscle fiber minicore regions, Facial palsy, High palate, I...	OMIM:602771
Spinocerebellar Ataxia Type 13	Optic atrophy, Bradykinesia, Limb ataxia, Urinary incontinence, Torticollis, Titubation, Urinary ...	ORPHA:98768
Walker-Warburg Syndrome	Muscular dystrophy, Aplasia/Hypoplasia involving the skeletal musculature, Bifid uvula, Cleft pal...	ORPHA:899
Primary Release Disorder Of Platelets	Bruising susceptibility, Abnormal bleeding, Menorrhagia, Spontaneous, recurrent epistaxis	OMIM:176630
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Thin vermilion border, Renal hypoplasia/aplasia, Anemia, Hypospadias, Hypoplasia of penis, Narrow...	ORPHA:1046
Myasthenic Syndrome, Congenital, 16	Bilateral ptosis, High palate, Ptosis, Periodic paralysis, Apnea	OMIM:614198
Otopalatodigital Syndrome Type 1	Increased bone mineral density, Oligodontia, Limitation of joint mobility, Synostosis of carpal b...	ORPHA:90650
Dominant Beta-Thalassemia	Genu valgum, Hypoplasia of the musculature, Abnormality of the dentition, Bowing of the long bone...	ORPHA:231226
Pseudohypoparathyroidism, Type Ib	Hypocalcemia, Hyperphosphatemia	OMIM:603233
Intellectual Developmental Disorder, Autosomal Recessive 35	Hypoplasia of the ulna, Wide nose, Microtia, Low-set ears, Everted lower lip vermilion, Thick nas...	OMIM:615162
Fetal Minoxidil Syndrome	Micrognathia, Cryptorchidism, Low-set, posteriorly rotated ears, Depressed nasal bridge	ORPHA:1918
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Short nose, Scoliosis, Facial diplegia, High palate, Limb muscle weakness, Hypoplasia of the maxi...	OMIM:218000
Joubert Syndrome 1	Oculomotor apraxia, Highly arched eyebrow, Anteverted nares, Low-set ears, Hemifacial spasm, Rena...	OMIM:213300
Treacher Collins Syndrome 1	Upper eyelid coloboma, Cleft soft palate, Microtia, Micrognathia, Narrow mouth, Choanal atresia, ...	OMIM:154500
Evans Syndrome	Autoimmune hemolytic anemia, Petechiae, Neutropenia in presence of anti-neutropil antibodies, Dys...	ORPHA:1959
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Retrognathia, Highly arched eyebrow, Sensorineural hearing impairment, Dental crowding, Everted l...	OMIM:618342
Gillessen-Kaesbach-Nishimura Syndrome	Congenital diaphragmatic hernia, Retrognathia, Polycystic kidney dysplasia, Wide anterior fontane...	OMIM:263210
Brachydactyly, Type B1	Hypoplastic sacrum, Wide anterior fontanel, Delayed cranial suture closure, Hemivertebrae, Campto...	OMIM:113000
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Lower limb hypertonia, Furrowed tongue, Protruding ear, Distal lower limb amyotrophy, Micropenis,...	OMIM:300534
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Long philtrum, Thin vermilion border, Limb hypertonia, Anteverted nares, Thoracic kyphoscoliosis,...	ORPHA:481152
Diastrophic Dysplasia	Abnormal metaphysis morphology, Short finger, Abnormal clavicle morphology, Proximal placement of...	ORPHA:628
Parkinson Disease 22, Autosomal Dominant	Bradykinesia, Orthostatic hypotension, Resting tremor, Parkinsonism with favorable response to do...	OMIM:616710
Deafness, Autosomal Recessive 88	Mixed hearing impairment	OMIM:615429
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Recurrent hand flapping, Gait ataxia, Dysphagia, Motor stereotypy, Hand tremor	OMIM:617862
Chung-Jansen Syndrome	Thin vermilion border, Long philtrum, Short nose, Short philtrum, Anteverted nares, High palate, ...	OMIM:617991
Coproporphyria, Hereditary	Elevated urinary delta-aminolevulinic acid, Jaundice, Hepatomegaly, Increased urinary porphobilin...	OMIM:121300
Trisomy 17P	Hypoplasia of penis, Aortic valve stenosis, Urethral valve, Wide mouth, Urethral stenosis, Hypert...	ORPHA:261290
Wrinkly Skin Syndrome	Osteopenia, Long philtrum, Slender long bone, Hypoplasia of the musculature, Delayed eruption of ...	OMIM:278250
Intellectual Developmental Disorder, Autosomal Recessive 39	Hyperactivity, Anteverted ears, Macrotia, Motor stereotypy, Aggressive behavior	OMIM:615541
Cleft Palate-Stapes Fixation-Oligodontia Syndrome	Atresia of the external auditory canal, Bilateral conductive hearing impairment	ORPHA:2010
Developmental Delay With Variable Neurologic And Brain Abnormalities	Widely spaced teeth, Wide nose, Anteverted nares, Spasticity, Microdontia, Camptodactyly, Sparse ...	OMIM:619694
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Atresia of the external auditory canal, Conductive hearing impairment, Microtia	OMIM:300946
Refractory Celiac Disease	Normocytic anemia, Iron deficiency anemia, Macrocytic anemia, Hypocalcemia, Hypoproteinemia, Incr...	ORPHA:398063
Cardiomyopathy, Dilated, 2G	Left atrial enlargement, Aortic regurgitation, Paroxysmal ventricular tachycardia, Myocardial sar...	OMIM:619897
Marshall-Smith Syndrome	Short mandibular rami, Retrognathia, Highly arched eyebrow, Optic nerve hypoplasia, Hypertension,...	OMIM:602535
Birk-Aharoni Syndrome	Macrocytic anemia, Duplicated collecting system, Chorea, Long nasal bridge, Hearing impairment, M...	OMIM:620071
Distal Duplication 6P	Aplasia/Hypoplasia of the earlobes, Low-set ears, Abnormal antitragus morphology, Renal hypoplasi...	ORPHA:1745
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)	Optic atrophy, Hypertonia, Sensorineural hearing impairment, Hypertrophic cardiomyopathy, Apnea, ...	OMIM:616896
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome	Mixed hearing impairment, Congenital sensorineural hearing impairment	ORPHA:2698
Distal Monosomy 7Q36	Optic atrophy, Hypertonia, Hypoplasia of penis, Non-midline cleft of the upper lip, Macrotia, Mic...	ORPHA:1636
Atelosteogenesis, Type Iii	Midface retrusion, Cervical segmentation defect, Scoliosis, Horizontal sacrum, Flat acetabular ro...	OMIM:108721
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures	Chorea, Inappropriate laughter, Dystonia, Ataxia, Motor stereotypy, Bruxism, Aggressive behavior	OMIM:619150
Autosomal Dominant Optic Atrophy Plus Syndrome	Optic atrophy, Temporal optic disc pallor, Sensorineural hearing impairment, Absent brainstem aud...	ORPHA:1215
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements	Conductive hearing impairment	OMIM:618497
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged kidney, Enlarged polycystic ovaries, Polycystic ovaries	ORPHA:90301
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Abnormal form of the vertebral bodies, Congenital muscular torticollis, Abnormal dental enamel mo...	ORPHA:2916
Immune Dysregulation, Autoimmunity, And Autoinflammation	Anemia, Petechiae, Gingival bleeding, Ecchymosis, Epistaxis, Inguinal lymphadenopathy, Cervical l...	OMIM:620514
Pontine Tegmental Cap Dysplasia	Rib fusion, Facial palsy, Ankle clonus	OMIM:614688
Alopecia Antibody Deficiency	Conductive hearing impairment	ORPHA:1006
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Bradykinesia, Babinski sign, Hypomimic face, Scissor gait, Spasticity, Tremor, Parkinsonism, Ankl...	ORPHA:521406
17Q24.2 Microdeletion Syndrome	Recurrent otitis media, Prolonged QT interval, Short philtrum, Tooth malposition, Upper limb unde...	ORPHA:529962
Hemochromatosis, Type 2A	Congestive heart failure, Cirrhosis, Hepatomegaly, Azoospermia, Cardiomyopathy, Splenomegaly, Arr...	OMIM:602390
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Impaired tactile sensation, Tremor, Low-set ears, Gait ataxia, Ataxia, Large fleshy ears, Motor s...	OMIM:619092
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Even-Plus Syndrome	Recurrent urinary tract infections, Microtia, Vesicoureteral reflux, Renal hypoplasia	OMIM:616854
Oculopharyngodistal Myopathy 3	Sensorineural hearing impairment, Conductive hearing impairment	OMIM:619473
Coronary Arterial Fistula	Congestive heart failure, Bicuspid aortic valve, Atrial septal defect, Cardiomegaly, Tachycardia,...	ORPHA:2041
Variant Abeta2M Amyloidosis	Abnormal salivary gland morphology, Knee pain, Abnormal skeletal muscle morphology, Intestinal pe...	ORPHA:314652
Parkinsonism With Polyneuropathy	Bradykinesia, Decreased compound muscle action potential amplitude, Resting tremor, Parkinsonism ...	OMIM:619279
Mitochondrial Complex I Deficiency, Nuclear Type 4	Death in childhood, Spasticity, Vomiting, Ptosis, Apnea, Ataxia, Myoclonus, Lethargy	OMIM:618225
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Optic atrophy, Babinski sign, Hypertonia, Limb hypertonia, Bradycardia, Abnormal autonomic nervou...	OMIM:614498
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Bradykinesia, Babinski sign, Hypomimic face, Apraxia, Spasticity, Action tremor, Rigidity, Parkin...	OMIM:300423
Parkinson Disease 6, Autosomal Recessive Early-Onset	Bradykinesia, Resting tremor, Urinary urgency, Rigidity, Parkinsonism	OMIM:605909
Amyloidosis, Familial Visceral	Hepatomegaly, Hematuria, Hypertension, Cholestasis, Nephrotic syndrome, Splenomegaly, Proteinuria...	OMIM:105200
Contractural Arachnodactyly, Congenital	Limited elbow extension, Osteopenia, Pectus carinatum, Elbow flexion contracture, High palate, Wr...	OMIM:121050
Van Maldergem Syndrome 1	Midface retrusion, Sensorineural hearing impairment, Microtia, Joint hypermobility, Sacral dimple...	OMIM:601390
Van Maldergem Syndrome 2	Midface retrusion, Sensorineural hearing impairment, Microtia, Joint hypermobility, Sacral dimple...	OMIM:615546
10Q22.3Q23.3 Microduplication Syndrome	Abnormal clavicle morphology, Abnormality of the philtrum, Abnormality of the dentition, Abnormal...	ORPHA:276422
Pontocerebellar Hypoplasia Type 4	Hypertonia, Micrognathia, Myoclonus, Arthrogryposis multiplex congenita, Central apnea	ORPHA:166063
Congenital Factor X Deficiency	Prolonged prothrombin time, Spontaneous hematomas, Gastrointestinal hemorrhage, Hematuria, Post-p...	ORPHA:328
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Long nose, Short philtrum, Narrow nasal bridge, Dental crowding, Hyperextensibility of the finger...	OMIM:309520
Pycnodysostosis	Midface retrusion, Spondylolysis, Spondylolisthesis, Hyperlordosis, Kyphosis, Persistent open ant...	ORPHA:763
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Recurrent otitis media, Unilateral renal agenesis, Low-set ears, Hearing impairment, Renal hypopl...	OMIM:618494
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hypocalcemia, Increased circulating renin level, Hypomagnesemia, Hyperphosphatemia	OMIM:601198
Bleeding Disorder, Platelet-Type, 20	Thrombocytopenia, Bruising susceptibility, Menorrhagia, Epistaxis	OMIM:616913
Von Willebrand Disease, Type 2	Thrombocytopenia, Bruising susceptibility, Menorrhagia, Epistaxis	OMIM:613554
Peroxisome Biogenesis Disorder 11A (Zellweger)	Anteverted nares, Renal cyst, Apnea, Multiple renal cysts, Depressed nasal bridge	OMIM:614883
Otopalatodigital Syndrome Type 2	Abnormal pinna morphology, Glossoptosis, Myelomeningocele, Hypoplastic frontal sinuses, Anodontia...	ORPHA:90652
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Short nose, Hydroureter, Hypoplasia of penis, Abnormality of the bladder, Microtia, Abnormality o...	ORPHA:2547
Kufor-Rakeb Syndrome	Bradykinesia, Babinski sign, Hypertonia, Torticollis, Hyposmia, Spasticity, Parkinsonism with fav...	OMIM:606693
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Medullary nephrocalcinosis, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Renal hyp...	OMIM:611555
Cutis Laxa-Marfanoid Syndrome	Congenital diaphragmatic hernia, Limitation of joint mobility, Arachnodactyly, Flexion contractur...	ORPHA:171719
Dislocation Of The Hip-Dysmorphism Syndrome	Abnormal palate morphology, Hearing abnormality, Anteverted nares, Narrow mouth, Depressed nasal ...	ORPHA:2412
Wildervanck Syndrome	Fused cervical vertebrae, Meningocele, Facial palsy, Congenital sensorineural hearing impairment,...	ORPHA:3456
Rauch-Steindl Syndrome	Hyperactivity, Attached earlobe, Prominent crus of helix, Failure to thrive, Hyperechogenic kidne...	OMIM:619695
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Abnormal metaphysis morphology, Abnormal clavicle morphology, Proximal placement of thumb, Short ...	ORPHA:93267
Alg9-Cdg	Narrow greater sciatic notch, Abnormal bone ossification, Torticollis, Hitchhiker thumb, Hypoplas...	ORPHA:79328
Coffin-Siris Syndrome 6	Retrognathia, High, narrow palate, Short philtrum, Gastroesophageal reflux, Low-set ears, Constip...	OMIM:617808
Potocki-Shaffer Syndrome	Delayed puberty, Anemia, Short philtrum, Hypertension, Depressed nasal tip, Hypothyroidism, Downt...	ORPHA:52022
Glanzmann Thrombasthenia 2	Abnormal bleeding, Menorrhagia, Epistaxis, Prolonged bleeding time, Bruising susceptibility, Prol...	OMIM:619267
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Absent nares, Single naris, Tooth malposition, Hypoplasia of penis, Hyposmia, Anosmia, Cleft pala...	ORPHA:2250
Bleeding Disorder, Platelet-Type, 11	Abnormal platelet count, Menorrhagia, Ecchymosis, Epistaxis, Bruising susceptibility, Prolonged b...	OMIM:614201
Spinocerebellar Ataxia Type 12	Bradykinesia, Tremor by anatomical site, Poor fine motor coordination, Intention tremor, Action t...	ORPHA:98762
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Protruding ear, Renal hypoplasia, Hypoplasia of penis	ORPHA:2256
Arterial Calcification, Generalized, Of Infancy, 2	Congestive heart failure, Reduced left ventricular ejection fraction, Sinus tachycardia, Hyperten...	OMIM:614473
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Mixed hearing impairment, Cervical C2/C3 vertebral fusion, Sensorineural hearing impairment, Glos...	ORPHA:444077
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Ectropion, Recurrent otitis media, Anteverted nares, Microtia, Oligodontia, Synophrys, Long palpe...	OMIM:602562
Saethre-Chotzen Syndrome	Abnormal form of the vertebral bodies, Sensorineural hearing impairment, Abnormal pinna morpholog...	ORPHA:794
Moebius Syndrome	Abnormal pinna morphology, Facial diplegia, Bifid uvula, Abnormal nasopharynx morphology, Dysphag...	OMIM:157900
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Compulsive behaviors, Enuresis, Inflexible adherence to routines, Obesity, Failure to thrive in i...	OMIM:613670
Distal Deletion 10P	Hearing abnormality, Low-set, posteriorly rotated ears, Hypoplasia of penis, Non-midline cleft of...	ORPHA:1580
Pallister-Hall Syndrome	Ectopic kidney, Microtia, Hypothalamic hamartoma, Decreased circulating cortisol level, Decreased...	OMIM:146510
Incessant Infant Ventricular Tachycardia	Congestive heart failure, Wolff-Parkinson-White syndrome, Cardiac rhabdomyoma, Histiocytoid cardi...	ORPHA:45453
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Optic atrophy, Progressive cerebellar ataxia, Impaired vibration sensation in the lower limbs, He...	ORPHA:95433
Isolated Atp Synthase Deficiency	Optic atrophy, 3-Methylglutaconic aciduria, Sensorineural hearing impairment, Renal hypoplasia, D...	ORPHA:254913
Long Qt Syndrome 9	Abnormal U wave, Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Ventricular arrhythmia...	OMIM:611818
Loeys-Dietz Syndrome 1	Hypoplasia of the musculature, Abnormal sternum morphology, Pectus carinatum, Postaxial hand poly...	OMIM:609192
Oligomeganephronia	Polydipsia, Abnormal nephron morphology, Decreased glomerular filtration rate, Unilateral renal a...	ORPHA:2260
Marden-Walker Syndrome	Muscular dystrophy, Pectus carinatum, Aplasia/Hypoplasia involving the skeletal musculature, Narr...	ORPHA:2461
Skraban-Deardorff Syndrome	Spastic gait, Hyperplasia of the maxilla, Absent cupid's bow, Recurrent otitis media, Widely spac...	OMIM:617616
Bleeding Disorder, Platelet-Type, 18	Menorrhagia, Epistaxis, Bruising susceptibility, Prolonged bleeding after dental extraction, Prol...	OMIM:615888
Cerebellar Ataxia, Cayman Type	Bradykinesia, Hypomimic face, Truncal ataxia, Intention tremor, Gait ataxia, Ataxia, Skeletal mus...	OMIM:601238
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Sudden episodic apnea, Respiratory distress, Apneic episodes precipitated by illness, fatigue, st...	OMIM:605809
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Decreased circulating renin level, Hypertension, Neoplasm of the adrenal gland, Glucocortocoid-in...	ORPHA:231625
Benign Familial Neonatal-Infantile Seizures	Vertigo, Episodic ataxia, Nausea, Apnea, Slurred speech	ORPHA:140927
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Congenital diaphragmatic hernia, Abnormal thumb morphology, Triphalangeal thumb, Proximal placeme...	ORPHA:1120
Bohring-Opitz Syndrome	Retrognathia, Bradycardia, Lower limb hypertonia, Optic atrophy, Low-set, posteriorly rotated ear...	ORPHA:97297
Lipoyltransferase 1 Deficiency	Bradycardia, Pulmonary arterial hypertension, Hyperglutaminuria, Alaninuria, Lacticaciduria	OMIM:616299
Frontorhiny	Low-set, posteriorly rotated ears, Encephalocele, Diabetes insipidus, Scoliosis, Midline nasal gr...	ORPHA:391474
Sick Sinus Syndrome 4	Paroxysmal atrial fibrillation, Abnormal QRS complex, Syncope, Chronotropic incompetence, Abnorma...	OMIM:619464
Congenital Heart Defects, Multiple Types, 3	Tachycardia, Atrial fibrillation, Right bundle branch block, Abnormal heart morphology, Tetralogy...	OMIM:614954
Seckel Syndrome 5	Retrognathia, Hypospadias, 11 pairs of ribs, Oligodontia, Selective tooth agenesis, Low-set ears,...	OMIM:613823
Chromosome 16Q22 Deletion Syndrome	Short palpebral fissure, Hypospadias, Highly arched eyebrow, Sensorineural hearing impairment, Bl...	OMIM:614541
Pseudo-Torch Syndrome 2	Hepatomegaly, Bradycardia, Ascites, Abnormal renal corticomedullary differentiation, Secundum atr...	OMIM:617397
Xp22.13P22.2 Duplication Syndrome	Congenital diaphragmatic hernia, Flared nostrils, Mandibular prognathia, High palate, Scoliosis, ...	ORPHA:284180
Gorham-Stout Disease	Mandibular pain, Abnormal ethmoid bone morphology, Abnormal bone ossification, Osteopenia, Abnorm...	ORPHA:73
Loeffler Endocarditis	Left atrial enlargement, Abnormal morphology of the chordae tendinae of the mitral valve, Myocard...	ORPHA:75566
Brain Malformations With Or Without Urinary Tract Defects	Vesicoureteral reflux, Low-set ears, Failure to thrive, Renal hypoplasia, Hydronephrosis, Overfol...	OMIM:613735
Dystonia 16	Bradykinesia, Torticollis, Abnormal pyramidal sign, Parkinsonism, Dysphagia, Postural tremor	ORPHA:210571
Bilateral Perisylvian Polymicrogyria	Facial diplegia, Dysphagia, Ectopic posterior pituitary, Abnormality of masticatory muscle, Choan...	ORPHA:98889
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Bradykinesia, Death in childhood, Chorea, Hypertrophic cardiomyopathy, Ataxia, Lethargy	OMIM:618683
Intellectual Developmental Disorder, Autosomal Dominant 7	Hyperactivity, Abnormal pinna morphology, Stereotypical hand wringing, Macrotia, Inappropriate la...	OMIM:614104
Congenital Muscular Dystrophy With Intellectual Disability	Skeletal muscle hypertrophy, Calf muscle hypertrophy, Hypoglycosylation of alpha-dystroglycan, Fa...	ORPHA:370968
Mosaic Variegated Aneuploidy Syndrome	Rhabdomyosarcoma, Intestinal polyposis, Low-set, posteriorly rotated ears, Aortic regurgitation, ...	ORPHA:1052
Woolly Hair Nevus	Enlarged vestibular aqueduct	ORPHA:79414
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Chorea, Childhood-Onset, With Psychomotor Retardation	Abnormal head movements	OMIM:616939
Christianson Syndrome	Cachexia, Truncal ataxia, Gait ataxia, Macrotia, Inappropriate laughter, Dystonia, Dysphagia, Mot...	ORPHA:85278
Infantile Sialic Acid Storage Disease	Congestive heart failure, Hepatomegaly, Vacuolated lymphocytes, Ascites, Nephrotic syndrome, Sple...	OMIM:269920
Ogden Syndrome	Bilateral ptosis, Enlarged kidney, Everted upper lip vermilion, Bifid nasal tip, Premature ventri...	OMIM:300855
Trisomy 8Q	Orofacial cleft, Low-set, posteriorly rotated ears, Hypoplasia of penis, Non-midline cleft of the...	ORPHA:1752
Pde4D Haploinsufficiency Syndrome	Accelerated skeletal maturation, Long philtrum, Joint hypermobility, Caudal interpedicular narrow...	ORPHA:439822
Coffin-Lowry Syndrome	Abnormal form of the vertebral bodies, Sensorineural hearing impairment, Everted lower lip vermil...	ORPHA:192
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Short finger, Small epiphyses, Wormian bones, Thin ribs, High palate, Thoracic kyphosis, Flared i...	OMIM:300232
Primary Unilateral Adrenal Hyperplasia	Decreased circulating renin level, Hypertension, Glucocortocoid-insensitive primary hyperaldoster...	ORPHA:231580
Acrocallosal Syndrome	Congenital diaphragmatic hernia, Triphalangeal thumb, Abnormal clavicle morphology, Postaxial han...	ORPHA:36
Chops Syndrome	Short nose, High, narrow palate, Cervical C2/C3 vertebral fusion, Tracheomalacia, Anteverted nare...	OMIM:616368
Congenital Diaphragmatic Hernia	Congenital diaphragmatic hernia, Intestinal malrotation, Aplasia/Hypoplasia of the diaphragm, Pro...	ORPHA:2140
Combined Deficiency Of Factor V And Factor Viii	Prolonged prothrombin time, Gastrointestinal hemorrhage, Hematuria, Gingival bleeding, Prolonged ...	ORPHA:35909
Osteogenesis Imperfecta, Type Ix	Pectus carinatum, Recurrent fractures, Pectus excavatum, Decreased calvarial ossification, Multip...	OMIM:259440
Axenfeld-Rieger Syndrome	Midface retrusion, Anal stenosis, Hypospadias, Everted lower lip vermilion, Microdontia, Abnormal...	ORPHA:782
6Q25 Microdeletion Syndrome	Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Abnormal pinna morphology, H...	ORPHA:251056
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Paroxysmal atrial fibrillation, Sick sinus syndrome, Ventricular couplet, Syncope, Effort-induced...	OMIM:604772
Tonne-Kalscheuer Syndrome	Congenital diaphragmatic hernia, Widely spaced teeth, Hypospadias, Narrow mouth, Decreased testic...	OMIM:300978
Fibrochondrogenesis 1	Narrow greater sciatic notch, Short ribs, Short long bone, Dumbbell-shaped long bone, Hypoplastic...	OMIM:228520
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Hypoplasia of penis, Sensorineural hearing impairment, Everted lower lip vermilion, Wide mouth, P...	ORPHA:85321
Spinocerebellar Ataxia 2	Bradykinesia, Babinski sign, Limb ataxia, Urinary incontinence, Progressive cerebellar ataxia, Oc...	OMIM:183090
Frontoocular Syndrome	Short palpebral fissure, Narrow philtrum, Low-set ears, High palate, Narrow mouth, Pulmonic steno...	OMIM:605321
Chromosome 6Q11-Q14 Deletion Syndrome	Short nose, High palate, Low-set ears, Bilateral cryptorchidism, Micrognathia, Broad nasal tip, P...	OMIM:613544
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent	Hypertonia, Apnea, Myoclonus, Long philtrum, Upslanted palpebral fissure, Thin upper lip vermilion	OMIM:617290
Peroxisome Biogenesis Disorder 8A (Zellweger)	Death in infancy, Glossoptosis, Epiphyseal stippling	OMIM:614876
Multiple Synostoses Syndrome 4	Otosclerosis	OMIM:617898
Achalasia-Microcephaly Syndrome	Mandibular prognathia, Macrotia, Micrognathia, Epicanthus, Prominent nose, Achalasia	ORPHA:929
Cutis Laxa, Autosomal Recessive, Type Ib	Congenital diaphragmatic hernia, Retrognathia, Death in childhood, Abnormal pinna morphology, Low...	OMIM:614437
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Renal hypoplasia, ...	OMIM:617660
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Muscular dystrophy, Calf muscle hypertrophy, Hyperlordosis, Facial palsy, EMG: myopathic abnormal...	OMIM:606612
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Congestive heart failure, Urinary incontinence, Recurrent otitis media, Rhizomelia, Gastroesophag...	OMIM:616482
Otosclerosis 10	Otosclerosis	OMIM:615589
Chromosome 15Q11-Q13 Duplication Syndrome	Inflexible adherence to routines, Restrictive behavior, Motor stereotypy, Truncal ataxia	OMIM:608636
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Congestive heart failure, Enlarged kidney, Anemia, Heavy proteinuria, Patent foramen ovale, Pulmo...	ORPHA:505248
Fetal Trimethadione Syndrome	Short nose, Hypospadias, Abnormal helix morphology, Low-set ears, High palate, Synophrys, Ptosis,...	ORPHA:1913
Rheumatic Fever	Myocarditis, Hemiballismus, Recurrent pharyngitis, Fasciculations, Chorea, Aplasia/Hypoplasia of ...	ORPHA:3099
Presynaptic Congenital Myasthenic Syndromes	Distal lower limb muscle weakness, Sudden episodic apnea, Gastroesophageal reflux, Sensorineural ...	ORPHA:98914
Congenital Myasthenic Syndrome	Distal lower limb muscle weakness, Sudden episodic apnea, Gastroesophageal reflux, Sensorineural ...	ORPHA:590
Myasthenic Syndrome, Congenital, 6, Presynaptic	Sudden episodic apnea, Respiratory distress, Apneic episodes precipitated by illness, fatigue, st...	OMIM:254210
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Aplasia of the thymus, B...	OMIM:102700
Mitochondrial Complex Iv Deficiency, Nuclear Type 8	Optic atrophy, Spastic gait, Bradykinesia, Spastic tetraparesis, Abnormal pyramidal sign	OMIM:619052
Aicardi Syndrome	Proximal placement of thumb, Missing ribs, Rib fusion, Cleft upper lip, Supernumerary ribs, Block...	OMIM:304050
Coenzyme Q10 Deficiency, Primary, 5	Left ventricular hypertrophy, Bradycardia	OMIM:614654
Developmental And Epileptic Encephalopathy 64	Thick lower lip vermilion, Widely spaced teeth, Limb hypertonia, Low insertion of columella, Ante...	OMIM:618004
Hypertelorism, Microtia, Facial Clefting Syndrome	Ectopic kidney, Microtia, Narrow mouth, Atresia of the external auditory canal, Conductive hearin...	OMIM:239800
Beta-Thalassemia Major	Genu valgum, Hypoplasia of the musculature, Abnormality of the dentition, Bowing of the long bone...	ORPHA:231214
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Fused cervical vertebrae, Scoliosis, Anal atresia, Thoracic hemivertebrae, Type II diabetes melli...	ORPHA:1436
Rapid-Onset Dystonia-Parkinsonism	Bradykinesia, Hypomimic face, Torticollis, Resting tremor, Gait ataxia, Dysphagia, Parkinsonism	ORPHA:71517
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Wide mouth, Long philtrum, Renal atrophy, Short finger, Hypospadias, Exaggerated cupid's bow, Hea...	OMIM:618659
Cardiomyopathy, Familial Hypertrophic, 10	Systolic anterior motion of the mitral valve, Ventricular septal hypertrophy, Left bundle branch ...	OMIM:608758
Severe Neonatal-Onset Encephalopathy With Microcephaly	Gastroesophageal reflux, Spasticity, High palate, Involuntary movements, Apnea	ORPHA:209370
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Lateral clavicle hook, Bell-shaped thorax, Narrow chest, Short long bone, Postaxial polydactyly, ...	OMIM:615633
Emanuel Syndrome	Congenital diaphragmatic hernia, Dental crowding, Kyphosis, Intestinal malrotation, Recurrent sin...	OMIM:609029
Combined Oxidative Phosphorylation Deficiency 57	Central diabetes insipidus, Diabetes insipidus, Sensorineural hearing impairment, Cardiac arrest,...	OMIM:620167
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Mandibular prognathia, Scoliosis, High palate, Kyphosis, Hypoplasia of the maxilla, Prominent nas...	OMIM:300676
Hemoglobin H Disease	HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia	OMIM:613978
Polycythemia Vera	Acute leukemia, Gastrointestinal hemorrhage, Thrombocytosis, Angina pectoris, Vertigo, Hypertensi...	ORPHA:729
Fixed Subaortic Stenosis	Paroxysmal atrial fibrillation, Congestive heart failure, Bicuspid aortic valve, Atrioventricular...	ORPHA:3092
Familial Afibrinogenemia	Abnormal bleeding, Miscarriage, Gingival bleeding, Epistaxis, Cerebral hemorrhage	ORPHA:98880
Keipert Syndrome	Sensorineural hearing impairment, Exaggerated cupid's bow, Hypoplasia of the maxilla, Prominent n...	ORPHA:2662
Dystonia 12	Bradykinesia, Hypomimic face, Torticollis, Tremor, Parkinsonism, Dysphagia	OMIM:128235
Relapsing Fever	Prolonged prothrombin time, Acute kidney injury, Abnormal bleeding, Hematuria, Anemia, Diarrhea, ...	ORPHA:91547
Dengue Fever	Gastrointestinal hemorrhage, Petechiae, Diarrhea, Gingival bleeding, Hypotension, Epistaxis, Cere...	ORPHA:99828
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Short nose, Short palpebral fissure, Hypertonia, Hypoplasia of penis, Highly arched eyebrow, Macr...	ORPHA:2083
Cohen Syndrome	Delayed puberty, Decreased response to growth hormone stimulation test, High, narrow palate, Cubi...	OMIM:216550
Orofaciodigital Syndrome Ii	Hydrocephalus, Scoliosis, Bifid nasal tip, High palate, Agenesis of central incisor, Hypoplasia o...	OMIM:252100
N-Acetylaspartate Deficiency	Truncal ataxia, Decreased body weight, Self-mutilation, Motor stereotypy	OMIM:614063
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Retrognathia, Hypospadias, Low-set, posteriorly rotated ears, Aplasia/Hypoplasia ...	ORPHA:98791
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Congenital diaphragmatic hernia, Bowed humerus, Short clavicles, Elbow flexion contracture, Hypop...	OMIM:618022
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Bradycardia	ORPHA:2898
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Optic atrophy, Hyperactivity, Tremor, Motor stereotypy, Aggressive behavior	OMIM:619470
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Spondylolisthesis, Craniosynostosis, Cervical spinal canal stenosis, Tarsal synostosis, Scoliosis...	OMIM:178110
Abruzzo-Erickson Syndrome	Sensorineural hearing impairment, Conductive hearing impairment, Macrotia	ORPHA:921
Hemifacial Atrophy, Progressive	Short mandibular rami, Delayed eruption of teeth, Microtia, Kyphosis, Dental malocclusion, Tongue...	OMIM:141300
Cardiomyopathy, Familial Hypertrophic, 8	Left atrial enlargement, Congestive heart failure, Endocardial fibrosis, Reduced left ventricular...	OMIM:608751
Blepharo-Cheilo-Odontic Syndrome	Conductive hearing impairment	ORPHA:1997
Arthrogryposis, Distal, Type 5D	Hypermobility of distal interphalangeal joints, Limited elbow movement, Anteverted nares, Scolios...	OMIM:615065
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Sick sinus syndrome, Bradycardia, Patent foramen ovale, Ventricular escape rhythm, Arrhythmia, Pr...	ORPHA:542306
Trisomy 18P	Thin vermilion border, High, narrow palate, Telecanthus, Highly arched eyebrow, Blepharophimosis,...	ORPHA:1715
Bleeding Disorder, Platelet-Type, 13, Susceptibility To	Bruising susceptibility, Ecchymosis, Abnormal platelet count, Epistaxis	OMIM:614009
Atrial Standstill 2	Bradycardia, Cardiomyopathy, Atrial arrhythmia, Dilatation of the ventricular cavity, Absent P wa...	OMIM:615745
Hemochromatosis, Type 1	Congestive heart failure, Cirrhosis, Hepatomegaly, Azoospermia, Hepatocellular carcinoma, Cardiom...	OMIM:235200
Lissencephaly, X-Linked, 2	Diarrhea, Long upper lip, Spasticity, Low-set ears, High palate, Decreased testicular size, Micro...	OMIM:300215
Heterotaxy, Visceral, 1, X-Linked	Enlarged kidney, Biliary atresia, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transp...	OMIM:306955
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Greig Cephalopolysyndactyly Syndrome	Congenital diaphragmatic hernia, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Toe ...	ORPHA:380
Dental Anomalies And Short Stature	Amelogenesis imperfecta, Widely spaced teeth, Intervertebral space narrowing, Mandibular prognath...	OMIM:601216
Xq28 (MECP2) duplication	Gait ataxia, Functional abnormality of the bladder, Macrotia, Failure to thrive, Dysphagia, Motor...	DECIPHER:45
Hyperprolinemia, Type I	Prolinuria, Hyperactivity, Hyperglycinuria, Ataxia, Hydroxyprolinuria, Motor stereotypy, Aggressi...	OMIM:239500
Radio-Tartaglia Syndrome	Retrognathia, Highly arched eyebrow, Dental crowding, Wide mouth, Dysphagia, Ataxia, Long philtru...	OMIM:619312
Pontocerebellar Hypoplasia, Type 1B	Tongue fasciculations, Flexion contracture, Skeletal muscle atrophy, Hip dislocation, Tongue atrophy	OMIM:614678
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Retrognathia, Biliary hyperplasia, Contracture of the distal interphalangeal joint of the fingers...	ORPHA:83617
Spondylocarpotarsal Synostosis Syndrome	Mixed hearing impairment, Sensorineural hearing impairment, Hyperlordosis, Delayed skeletal matur...	OMIM:272460
Juvenile Nasopharyngeal Angiofibroma	Epistaxis, Nasal congestion, Juvenile colonic polyposis	ORPHA:289596
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Congenital diaphragmatic hernia, Abnormality of the diaphragm, Clinodactyly of the 5th finger, De...	OMIM:601163
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Thin vermilion border, Hyposegmentation of neutrophil nuclei, Delayed skeletal maturation, Long p...	OMIM:614800
Cardiomyopathy, Familial Hypertrophic, 16	Left bundle branch block, Reduced left ventricular ejection fraction, Palpitations, Atrial fibril...	OMIM:613838
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B	3-Methylglutaconic aciduria, Apnea, Neonatal death	OMIM:615228
Beta-Propeller Protein-Associated Neurodegeneration	Optic atrophy, Bradykinesia, Tremor, Abnormal autonomic nervous system physiology, Rigidity, Park...	ORPHA:329284
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies	Optic atrophy, Sensorineural hearing impairment, Conductive hearing impairment, Low-set ears	OMIM:618672
Sifrim-Hitz-Weiss Syndrome	Fused cervical vertebrae, Renal insufficiency, Vesicoureteral reflux, Low-set ears, Flat acetabul...	OMIM:617159
1P36 Deletion Syndrome	Bifid ribs, Clinodactyly of the 5th finger, 11 pairs of ribs, Delayed cranial suture closure, Abn...	ORPHA:1606
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Platelet Signal Processing Defect	Thrombocytopenia, Abnormal bleeding, Epistaxis	OMIM:173590
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Tongue atrophy, Upper limb muscle weakness, Foot dorsiflexor weakness, Lower limb muscle weakness	OMIM:616155
Intellectual Disability-Strabismus Syndrome	Congenital diaphragmatic hernia, Highly arched eyebrow, Narrow nasal ridge, Congenital finger fle...	ORPHA:363528
Lethal Congenital Contracture Syndrome 10	Narrow palate, Stiff neck, Torticollis, Narrow chest, Femoral bowing, Short long bone, High palat...	OMIM:617022
Temtamy Preaxial Brachydactyly Syndrome	Synostosis of carpals/tarsals, Short nose, Abnormality of canine, Tarsal synostosis, Tooth malpos...	ORPHA:363417
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Death in childhood, Hematuria, Low-set ears, Death in infancy, Sparse eyelashes, Downslanted palp...	OMIM:616901
Polyvalvular Heart Disease Syndrome	Short philtrum, Dental crowding, Abnormal pinna morphology, High palate, Low-set ears, Tricuspid ...	ORPHA:228410
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive	Bradykinesia, Babinski sign, Hypertonia, Limb ataxia, Hypomimic face, Rigidity, Parkinsonism	OMIM:618824
Mitochondrial Complex I Deficiency, Nuclear Type 5	Optic atrophy, Babinski sign, Episodic vomiting, Vomiting, Ptosis, Apnea, Ataxia, Dysphagia, Leth...	OMIM:618226
Hemochromatosis, Type 2B	Congestive heart failure, Cirrhosis, Hepatomegaly, Anemia, Cardiomyopathy, Splenomegaly, Hypogona...	OMIM:613313
Orofaciodigital Syndrome Xix	Retrognathia, Bifid nasal tip, Microdontia, Accessory oral frenulum, Tongue nodules, Narrow palat...	OMIM:620107
Stuve-Wiedemann Syndrome 1	Wide nasal base, Flexion contracture of toe, Abnormal autonomic nervous system physiology, Death ...	OMIM:601559
Tetraploidy	Renal hypoplasia/aplasia, Short philtrum, Micrognathia, Hydronephrosis, Hypoplasia of the ear car...	ORPHA:3305
Guanidinoacetate Methyltransferase Deficiency	Hyperactivity, Chorea, Athetosis, Abnormal head movements, Dystonia, Ataxia, Self-injurious behav...	ORPHA:382
Joubert Syndrome 2	Nephronophthisis, Oculomotor apraxia, Encephalocele, Hydrocephalus, Low-set ears, High palate, Re...	OMIM:608091
Huntington Disease	Bradykinesia, Babinski sign, Oral-pharyngeal dysphagia, Chorea, Poor fine motor coordination, Inv...	ORPHA:399
Orofaciodigital Syndrome Type 2	Abnormal oral frenulum morphology, Tongue nodules, Taurodontia, Talon cusp, Unilateral alveolar c...	ORPHA:2751
22Q11.2 Duplication Syndrome	Wide nose, Depressed nasal ridge, Hearing impairment, Ptosis, Downslanted palpebral fissures, Hyd...	ORPHA:1727
Smith-Magenis syndrome	Hyperactivity, Self-mutilation, Motor stereotypy	DECIPHER:8
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Duodenal atresia, Vertebral segmentation defect, Aplasia of the thymus	ORPHA:3004
15Q24 Microdeletion Syndrome	Congenital diaphragmatic hernia, Wide nasal base, Kyphosis, Myelomeningocele, Long philtrum, Join...	ORPHA:94065
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope...	ORPHA:444463
Crisponi/Cold-Induced Sweating Syndrome 1	Retrognathia, Wide nose, Anteverted nares, Elbow flexion contracture, High palate, Low-set ears, ...	OMIM:272430
Crouzon Syndrome	Midface retrusion, Deviated nasal septum, Lambdoidal craniosynostosis, Hydrocephalus, Dental crow...	OMIM:123500
Isolated Congenital Hypoglossia/Aglossia	Micrognathia, Temporomandibular joint ankylosis, Cleft palate, Microglossia	ORPHA:141152
Glycogen Storage Disease Ib	Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Hepatocellular...	OMIM:232220
Autosomal Dominant Spastic Ataxia Type 1	Limb ataxia, Jerky head movements, Impaired proprioception, Impaired vibration sensation in the l...	ORPHA:251282
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Attached earlobe, Incoordination, Poor fine motor coordination, Low-set ears, Upslanted palpebral...	ORPHA:436245
Microcephalic Primordial Dwarfism, Toriello Type	Abnormal rib morphology, Enamel hypoplasia, Downturned corners of mouth, Brachydactyly, Abnormal ...	ORPHA:2643
Recombinant Chromosome 8 Syndrome	Hypertonia, Thick lower lip vermilion, Anteverted nares, Gingival overgrowth, Low-set ears, Abnor...	OMIM:179613
Postaxial Acrofacial Dysostosis	Low-set, posteriorly rotated ears, Microtia, Abnormality of the middle ear, Conductive hearing im...	ORPHA:246
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome	Bradykinesia, Lower limb spasticity, Urinary urgency	OMIM:618878
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome	Sensorineural hearing impairment, Abnormal salivary gland morphology	ORPHA:3225
Williams Syndrome	Chronic otitis media, Hypoplasia of penis, Abnormal form of the vertebral bodies, Sensorineural h...	ORPHA:904
Non-Functioning Paraganglioma	Cranial nerve compression, Paraganglioma of head and neck, Conductive hearing impairment, Paroxys...	ORPHA:94080
Acrodysostosis	Midface retrusion, Abnormal form of the vertebral bodies, Accelerated skeletal maturation, Hypogo...	ORPHA:950
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Bradykinesia, Babinski sign, Protein-losing enteropathy, Lacticaciduria	OMIM:619063
X-Linked Intellectual Disability, Sutherland-Haan Type	Mandibular prognathia, Anal atresia, Hypoplasia of the maxilla, Macrotia, Decreased testicular size	ORPHA:93950
Multiple System Atrophy	Bradykinesia, Progressive cerebellar ataxia, Orthostatic syncope, Resting tremor, Abnormal autono...	ORPHA:102
Spinocerebellar Ataxia Type 1	Optic atrophy, Bradykinesia, Progressive cerebellar ataxia, Abnormal nerve conduction velocity, A...	ORPHA:98755
Short Qt Syndrome 2	Bradycardia, Atrial fibrillation, Ventricular fibrillation, Shortened QT interval, Syncope, Sudde...	OMIM:609621
Aarskog-Scott Syndrome	Delayed puberty, Elevated circulating luteinizing hormone level, Broad philtrum, Joint hypermobil...	OMIM:305400
Crimean-Congo Hemorrhagic Fever	Hematemesis, Spontaneous hematomas, Bradycardia, Fasciculations, Vertigo, Hypertension, Inappropr...	ORPHA:99827
Intellectual Developmental Disorder, X-Linked 72	Hyperactivity, Motor stereotypy	OMIM:300271
Phosphoserine Aminotransferase Deficiency	Death in infancy, Hypertonia, Apnea, Myoclonus	OMIM:610992
Infantile Dystonia-Parkinsonism	Bradykinesia, Hypomimic face, Hypertonia, Limb hypertonia, Gastroesophageal reflux, Chorea, Cereb...	ORPHA:238455
Holzgreve Syndrome	Renal agenesis, Renal hypoplasia	OMIM:236110
Axenfeld-Rieger Syndrome, Type 2	Anal stenosis, Hypospadias, Short philtrum, Hydrocephalus, Mandibular prognathia, Everted lower l...	OMIM:601499
Wolf-Hirschhorn Syndrome	Congenital diaphragmatic hernia, Hypoplastic pubic ramus, Short hallux, Short philtrum, Abnormal ...	ORPHA:280
Parenti-Mignot Neurodevelopmental Syndrome	Short philtrum, Microtia, Prominent nasal tip, Low-set ears, Synophrys, Micrognathia, Posteriorly...	OMIM:619873
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Meckel diverticulum, Death in infancy, Patellar dislocation, Genu varum, Hi...	OMIM:274000
Granulomatous Slack Skin	Abnormal lymph node morphology, Hypercalcemia	ORPHA:33111
Cleft Lip/Palate	Orofacial cleft, Recurrent otitis media, Abnormal number of permanent teeth, Peg-shaped maxillary...	ORPHA:199306
Kbg Syndrome	Widely-spaced maxillary central incisors, Radial deviation of finger, Clinodactyly of the 5th fin...	OMIM:148050
Long Qt Syndrome 5	Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope,...	OMIM:613695
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Enlarged kidney	OMIM:618272
Fibrodysplasia Ossificans Progressiva	Widely spaced teeth, Ectopic ossification in tendon tissue, Sensorineural hearing impairment, Sco...	OMIM:135100
Pontocerebellar Hypoplasia, Type 11	Limb ataxia, Decreased body weight, Macrotia, Ataxia, Dysphagia, Motor stereotypy, Attention defi...	OMIM:617695
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome	Orofacial cleft, Gastroesophageal reflux, High palate, Low-set ears, Long eyelashes, Synophrys, M...	ORPHA:502434
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal QRS complex, Congestive heart failure, Abnormal ventriculoarterial connection, Hepatomeg...	ORPHA:860
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Bradykinesia, Babinski sign, Tremor, Parkinsonism with favorable response to dopaminergic medicat...	ORPHA:314632
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Slender long bone, Thin ribs, Decreased calvarial ossification, Cleft palate, Brachydactyly, Cran...	OMIM:618265
Acrodysostosis 1 With Or Without Hormone Resistance	Midface retrusion, Decreased growth hormone responses to growth hormone-releasing hormone challen...	OMIM:101800
Developmental And Speech Delay Due To Sox5 Deficiency	Narrow palate, Butterfly vertebrae, Dental crowding, Scoliosis, Thoracic kyphoscoliosis, Exaggera...	ORPHA:313892
Ectopic Aldosterone-Producing Tumor	Renal cortical adenoma, Ovarian neoplasm, Decreased circulating renin level, Hypertension, Glucoc...	ORPHA:231632
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Sensorineural hearing impairment, Obesity, Vesicoureteral reflux, Renal hypoplasia	ORPHA:464288
Codas Syndrome	Short nose, Midline defect of the nose, Hydroureter, Delayed eruption of teeth, Sensorineural hea...	ORPHA:1458
Melanocytic Nevus Syndrome, Congenital	Short nose, Narrow nasal ridge, Anteverted nares, Everted lower lip vermilion, Full cheeks, Broad...	OMIM:137550
Nablus Mask-Like Facial Syndrome	Retrognathia, Small earlobe, Everted lower lip vermilion, Long philtrum, Craniosynostosis, Anteve...	OMIM:608156
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay	Spastic gait, Hypomimic face, Gastroesophageal reflux, Dental crowding, Gait ataxia, Spastic para...	OMIM:615031
Genitopalatocardiac Syndrome	Congenital diaphragmatic hernia, Hypospadias, Hydrocephalus, Non-midline cleft of the upper lip, ...	ORPHA:2075
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Maturity-onset diabetes of the young, Recurrent otitis media, Wide nose, Short philtrum, Poor fin...	ORPHA:254531
Fanconi Anemia, Complementation Group I	Decreased response to growth hormone stimulation test, Fused cervical vertebrae, Vesicoureteral r...	OMIM:609053
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Congenital diaphragmatic hernia, Arachnodactyly, Hip dislocation	OMIM:614100
Multiple System Atrophy, Cerebellar Type	Bradykinesia, Limb ataxia, Progressive cerebellar ataxia, Orthostatic syncope, Resting tremor, Ne...	ORPHA:227510
2P21 Microdeletion Syndrome	Hypocalcemia	ORPHA:163693
Cyanide-Induced Parkinsonism-Dystonia	Bradykinesia, Resting tremor, Elbow flexion contracture, Rigidity, Parkinsonism	ORPHA:306692
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Attention deficit hyperactivity disorder, Ataxia, Motor stereotypy	OMIM:618709
Factor Xiii, A Subunit, Deficiency Of	Spontaneous hematomas, Abnormal bleeding, Gingival bleeding, Abnormal umbilical stump bleeding, J...	OMIM:613225
Lopes-Maciel-Rodan Syndrome	Bradykinesia, Hypertonia, Spasticity, Tremor, Dysphagia, Ankle clonus, Abnormal pyramidal sign, S...	OMIM:617435
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Muscular dystrophy, Hypertonia, Death in infancy, Rigidity, Apnea	OMIM:613869
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Spina bifida occulta, Central apnea, Abnormal pinna morphology, Arthrogryposis multiplex congenit...	OMIM:618291
Osteopetrosis, Autosomal Dominant 1	Conductive hearing impairment	OMIM:607634
Multiple System Atrophy, Parkinsonian Type	Bradykinesia, Progressive cerebellar ataxia, Orthostatic syncope, Resting tremor, Abnormal autono...	ORPHA:98933
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Abnormal number of incisors, Osteoporosis, Supernumerary ribs, Finger clinodactyly, Patellar subl...	ORPHA:2958
Eec Syndrome	Renal hypoplasia/aplasia, Sensorineural hearing impairment, Abnormal pinna morphology, Microdonti...	ORPHA:1896
Intellectual Developmental Disorder, Autosomal Dominant 70	Retrognathia, Low hanging columella, Hydrocephalus, Mandibular prognathia, Hypoplasia of the maxi...	OMIM:620157
Van Bogaert-Hozay Syndrome	Tooth malposition, Abnormal pinna morphology, Distal ulnar hypoplasia, Micrognathia, Depressed na...	OMIM:277150
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Bradycardia	OMIM:620265
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive	Self-injurious behavior, Dystonia, Motor stereotypy	OMIM:617820
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive	Bradykinesia, Chorea, Ataxia, Dysphagia, Parkinsonism, Abnormal pyramidal sign, Dysmetria, Slurre...	OMIM:618317
Cardiomyopathy, Familial Hypertrophic, 11	Congestive heart failure, Atrial flutter, Left anterior fascicular block, Left bundle branch bloc...	OMIM:612098
Dyggve-Melchior-Clausen Disease	Abnormal hip bone morphology, Abnormal femoral head morphology, Pectus carinatum, Short long bone...	ORPHA:239
Spondyloepiphyseal Dysplasia, Nishimura Type	Hypocalcemia, Hyperphosphatemia	OMIM:618618
Temple Syndrome	Recurrent otitis media, Maturity-onset diabetes of the young, Short philtrum, Wide nose, Hydrocep...	OMIM:616222
Spinocerebellar Ataxia 10	Bradykinesia, Babinski sign, Limb fasciculations, Decreased nerve conduction velocity, Urinary in...	OMIM:603516
Ablepharon-Macrostomia Syndrome	Aplastic zygomatic arch, Microtia, third degree, Low-set ears, Hypoplastic nipples, Camptodactyly...	OMIM:200110
Hypophosphatasia, Infantile	Stillbirth, Anemia, Hypercalciuria, Short ribs, Abnormality of the dentition, Elevated urine pyro...	OMIM:241500
Auriculocondylar Syndrome	Mandibular condyle hypoplasia, Abnormal pinna morphology, Dental crowding, Glossoptosis, Bifid uv...	ORPHA:137888
Dworschak-Punetha Neurodevelopmental Syndrome	Large earlobe, Vesicoureteral reflux, Unilateral renal hypoplasia, Cupped ear	OMIM:619955
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Orofacial cleft, Abnormal pinna morphology, Low-set ears, Depressed nasal ridge, Intestinal malro...	ORPHA:77300
Al Amyloidosis	Gastrointestinal hemorrhage, Gastroparesis, Abnormal autonomic nervous system physiology, Dysphag...	ORPHA:85443
Cebalid Syndrome	Congenital diaphragmatic hernia, Short nose, Midface retrusion, Anteverted nares, Abnormal pinna ...	OMIM:618774
Familial Atrial Myxoma	Congestive heart failure, Jaundice, Bacterial endocarditis, Cardiac myxoma, Cholestasis, Ascites,...	ORPHA:615
Cirrhotic Cardiomyopathy	Elevated pulmonary artery pressure, Congestive heart failure, Cirrhosis, Jaundice, Prolonged QT i...	ORPHA:57777
Fetal Alcohol Syndrome	Congenital diaphragmatic hernia, Short nose, Low-set, posteriorly rotated ears, Anteverted nares,...	ORPHA:1915
Immunodeficiency 104	Splenomegaly, Hepatomegaly, Lymphadenopathy, T lymphocytopenia	OMIM:608971
Wiedemann-Steiner Syndrome	Broad lateral eyebrow, Highly arched eyebrow, Contracture of the distal interphalangeal joint of ...	OMIM:605130
Brugada Syndrome	Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc...	ORPHA:130
Axial Mesodermal Dysplasia Spectrum	Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Gastroesophageal reflux, Hydrocephalus...	ORPHA:1834
Zechi-Ceide Syndrome	Abnormal earlobe morphology, Stenosis of the external auditory canal, Abnormal helix morphology, ...	ORPHA:217017
Renal Tubular Acidosis, Distal, 1	Hypocalcemia, Elevated circulating creatinine concentration, Hypokalemia	OMIM:179800
Factor X Deficiency	Prolonged prothrombin time, Intramuscular hematoma, Gingival bleeding, Menorrhagia, Joint hemorrh...	OMIM:227600
Dysosteosclerosis	Short ribs, Broad femoral neck, Delayed closure of the anterior fontanelle, Broad ribs, Clavicula...	OMIM:224300
Aminoacylase 1 Deficiency	Bradycardia	OMIM:609924
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas...	OMIM:133180
Parkinson Disease 19A, Juvenile-Onset	Pill-rolling tremor, Bradykinesia, Hypomimic face, Limb hypertonia, Spasticity, Rigidity, Parkins...	OMIM:615528
White-Kernohan Syndrome	Retrognathia, Wide mouth, Anteverted nares, Horizontal eyebrow, Broad medial eyebrow, Thin upper ...	OMIM:619426
Congenital Factor Vii Deficiency	Prolonged prothrombin time, Gastrointestinal hemorrhage, Post-partum hemorrhage, Gingival bleedin...	ORPHA:327
Hamel Cerebro-Palato-Cardiac Syndrome	Narrow mouth, Death in infancy, Micrognathia, Cleft palate, Malar flattening, Bulbous nose, Wide ...	ORPHA:93946
Neurodegeneration With Brain Iron Accumulation 6	Bradykinesia, Distal amyotrophy, Rigidity, Spastic tetraplegia, Spastic paraparesis	OMIM:615643
Sporadic Infantile Bilateral Striatal Necrosis	Bradykinesia, Babinski sign, Hypomimic face, Urinary incontinence, Progressive extrapyramidal mus...	ORPHA:225147
Thrombocytopenia With Beta-Thalassemia, X-Linked	Petechiae, Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Epis...	OMIM:314050
White Forelock With Malformations	Abnormal palate morphology, Clinodactyly of the 5th finger, Finger syndactyly, Abnormal rib morph...	ORPHA:2475
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Atrial fibrillation, Bradycardia	OMIM:614302
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Short nose, Shallow orbits, Downslanted palpebral fissures, Apnea, Micrognathia	ORPHA:1129
Fraser Syndrome 1	Renal hypoplasia/aplasia, Abnormal middle ear morphology, Upper eyelid coloboma, Dental crowding,...	OMIM:219000
Axial Spondylometaphyseal Dysplasia	Narrow greater sciatic notch, Hypoplastic iliac wing, Delayed ossification of carpal bones, Short...	ORPHA:168549
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Abnormal palate morphology, Aplasia/Hypoplasia of fingers, Hypoplasia of penis, Aplasia/Hypoplasi...	ORPHA:3082
Progressive Familial Heart Block, Type Ii	Syncope, Complete heart block with narrow QRS complexes, Sinus bradycardia, Atrioventricular bloc...	OMIM:140400
Hermansky-Pudlak Syndrome 3	Abnormal bleeding, Spontaneous, recurrent epistaxis, Gingival bleeding, Abnormal number of dense ...	OMIM:614072
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Hepatomegaly, Splenomegaly	OMIM:606445
Tyrosinemia, Type I	Elevated urinary delta-aminolevulinic acid, Cirrhosis, Hepatomegaly, Anemia, Gastrointestinal hem...	OMIM:276700
Atrial Fibrillation, Familial, 7	Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Premature ...	OMIM:612240
Autosomal Dominant Dopa-Responsive Dystonia	Bradykinesia, Babinski sign, Torticollis, Abnormality of extrapyramidal motor function, Hypertens...	ORPHA:98808
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Ambiguous genitalia, male, Bradycardia, Partial development of the penile shaft, Dysplastic teste...	OMIM:608800
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia	Patellar hypoplasia, Macrotia, Micrognathia, Flexion contracture, Hypogonadism, Protruding ear, C...	OMIM:251240
Thoracic Dysplasia-Hydrocephalus Syndrome	Conductive hearing impairment	ORPHA:1861
Campomelic Dysplasia	Absent sternal ossification, Contracture of the distal interphalangeal joint of the fingers, Long...	OMIM:114290
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Congenital diaphragmatic hernia, Ureteral duplication, Long philtrum, Short distal phalanx of fin...	OMIM:614080
Clark-Baraitser syndrome	Thick lower lip vermilion, Genu valgum, Genu recurvatum, Anteverted nares, Scoliosis, Prominent m...	OMIM:300602
Sickle Cell Disease	Jaundice, Hepatomegaly, Hematuria, Cholelithiasis, Hypertension, Splenic infarction, Leukocytosis...	OMIM:603903
Wiskott-Aldrich Syndrome	Hematemesis, Small vessel vasculitis, Impaired lymphocyte transformation with phytohemagglutinin,...	OMIM:301000
3M Syndrome	Rocker bottom foot, Hypoplasia of the ulna, Abnormal metaphysis morphology, Long philtrum, Clinod...	ORPHA:2616
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Hypoplastic helices, Ectopic kidney, Unilateral renal agenesis, Renal insufficiency, Horseshoe ki...	OMIM:617641
Hemophilia B	Cephalohematoma, Hematuria, Intramuscular hematoma, Spontaneous, recurrent epistaxis, Delayed ons...	ORPHA:98879
Bleeding Disorder In Hemophilia A Carriers	Spontaneous hematomas, Abnormal bleeding, Post-partum hemorrhage, Menorrhagia, Joint hemorrhage, ...	ORPHA:177926
Oculocerebrocutaneous Syndrome	Congenital diaphragmatic hernia, Orofacial cleft, Finger syndactyly, Missing ribs, Abnormal rib m...	ORPHA:1647
Toriello-Lacassie-Droste Syndrome	Epispadias, Short nose, Short palpebral fissure, Aganglionic megacolon, Hypospadias, Telecanthus,...	ORPHA:3339
Edinburgh Malformation Syndrome	Thin vermilion border, Short nose, Hypertonia, Hydrocephalus, Anteverted nares, Narrow mouth, Low...	ORPHA:1895
Emanuel Syndrome	Congenital diaphragmatic hernia, Kyphoscoliosis, Dental crowding, Severe hearing impairment, Bifi...	ORPHA:96170
Nephronophthisis 19	Hepatomegaly, Nephronophthisis, Cholestasis, Bile duct proliferation, Hyperechogenic kidneys, Spl...	OMIM:616217
Orofaciodigital Syndrome Iii	Supernumerary tooth, Postaxial hand polydactyly, Pectus excavatum, Microdontia, Short sternum, Bi...	OMIM:258850
Syngap1-Related Developmental And Epileptic Encephalopathy	Obsessive-compulsive trait, Hypospadias, Abnormality of pain sensation, Tremor, Anteverted ears, ...	ORPHA:544254
Congenital Anomalies Of Kidney And Urinary Tract 3	Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl...	OMIM:618270
Pallister-Hall-Like Syndrome	Short nose, Occipital encephalocele, Anterior hypopituitarism, Hydrocephalus, Death in infancy, M...	OMIM:241800
Striatal Degeneration, Autosomal Dominant 1	Bradykinesia, Dysdiadochokinesis, Tremor, Rigidity, Slurred speech	OMIM:609161
Cardiomyopathy, Familial Hypertrophic, 12	Paroxysmal atrial fibrillation, Ventricular septal hypertrophy, Reduced left ventricular endsysto...	OMIM:612124
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Limb ataxia, Retrognathia, Anteverted nares, Prominent nasal tip, Truncal ataxia, Low-set ears, E...	OMIM:617101
Non-Distal Duplication 13Q	Thin vermilion border, Short nose, Aplasia/Hypoplasia of the earlobes, Abnormal antihelix morphol...	ORPHA:1702
Recon Progeroid Syndrome	Thin vermilion border, Anemia, Keratoconjunctivitis sicca, Narrow nasal ridge, Anteverted nares, ...	OMIM:620370
Autosomal Recessive Kenny-Caffey Syndrome	Hypocalcemia, Hypocalcemic seizures, Hypocalcemic tetany	ORPHA:93324
Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development	Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri...	OMIM:620482
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Left ventricular outflow tract obstruction, Right bundle branch block, ...	OMIM:613251
Long Qt Syndrome 8	Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope, Aborted sudden card...	OMIM:618447
Three M Syndrome 2	Slender long bone, Delayed eruption of teeth, Pectus carinatum, Thin ribs, Short thorax, Scapular...	OMIM:612921
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome	Ataxia, Long philtrum, Hypertonia, Camptodactyly, Downslanted palpebral fissures, Enlarged naris,...	ORPHA:562528
Hypophosphatasia	Abnormal metaphysis morphology, Narrow chest, Abnormality of the dentition, Bowing of the long bo...	ORPHA:436
Parkinson Disease 11, Autosomal Dominant, Susceptibility To	Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri...	OMIM:607688
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	3-Methylglutaconic aciduria, Sensorineural hearing impairment, Hyperhidrosis, Short humerus, Myoc...	ORPHA:17
Attenuated Chédiak-Higashi Syndrome	Hypertonia, Abnormality of extrapyramidal motor function, Incoordination, Gingival bleeding, Epis...	ORPHA:352723
Fibrochondrogenesis 2	Bell-shaped thorax, Metaphyseal cupping, Hypoplastic pubic bone, Short long bone, Short ribs, Cup...	OMIM:614524
Multicystic Dysplastic Kidney	Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Hypertension, Ve...	ORPHA:1851
Acrootoocular Syndrome	Wide nasal base, Abnormal earlobe morphology, Abnormality of facial musculature, Sensorineural he...	ORPHA:2980
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Bradykinesia, Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication	OMIM:610297
Inherited Creutzfeldt-Jakob Disease	Bradykinesia, Babinski sign, Progressive cerebellar ataxia, Spastic dysarthria, Spastic hemipares...	ORPHA:282166
Lymphatic Malformation 11	Lymphedema, Pedal edema	OMIM:619401
Vesicoureteral Reflux 2	Renal hypoplasia, Vesicoureteral reflux	OMIM:610878
Andersen Cardiodysrhythmic Periodic Paralysis	Short mandibular rami, Dental crowding, Delayed skeletal maturation, Prominent frontal sinuses, J...	OMIM:170390
Microcephaly-Capillary Malformation Syndrome	Short nose, Wide nose, Vesicoureteral reflux, Low-set ears, Hypoplasia of the maxilla, Hearing im...	OMIM:614261
Charlie M Syndrome	Thin vermilion border, Short philtrum, Non-midline cleft of the upper lip, Narrow mouth, Tooth ag...	ORPHA:1406
Sarcoidosis	Increased T cell count, Nephrocalcinosis, Leukopenia, Abnormal conjunctiva morphology, Enlarged l...	ORPHA:797
Baller-Gerold Syndrome	Short nose, Narrow nasal bridge, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the patel...	ORPHA:1225
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Retrognathia, Oculomotor apraxia, Microtia, Wide mouth, Long philtrum, Narrow palate, Short philt...	OMIM:620250
Pancreatic And Cerebellar Agenesis	Anemia, Optic nerve hypoplasia, Abnormal pinna morphology, Pancreatic hypoplasia, Low-set ears, P...	OMIM:609069
Intellectual Developmental Disorder, Autosomal Recessive 71	Unilateral renal agenesis, Macrotia, Motor stereotypy, Attention deficit hyperactivity disorder, ...	OMIM:618504
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Furrowed tongue, Abnormal pelvic girdle bone morphology, Camptodactyly of finger, Brachydactyly, ...	ORPHA:2928
Mitochondrial Complex I Deficiency, Nuclear Type 14	Optic atrophy, Apnea, Myopathy, Hypertrophic cardiomyopathy	OMIM:618236
Romano-Ward Syndrome	Torsade de pointes, Prolonged QTc interval, Sinus bradycardia, Ventricular arrhythmia, Syncope, S...	ORPHA:101016
Gracile Bone Dysplasia	Hypocalcemia, Hypoplastic spleen, Asplenia	OMIM:602361
Mitochondrial Complex I Deficiency, Nuclear Type 1	Sensorineural hearing impairment, Tongue fasciculations, Death in infancy, Ataxia, Splenomegaly, ...	OMIM:252010
Pyknoachondrogenesis	Short iliac bones, Craniofacial hyperostosis, Abnormality of mouth shape, Abnormal iliac wing mor...	ORPHA:3003
Sick Sinus Syndrome 1	Sick sinus syndrome, Prolonged QT interval, Ventricular escape rhythm, Sinus bradycardia, Atriove...	OMIM:608567
Factor Vii Deficiency	Abnormal bleeding, Intramuscular hematoma, Menorrhagia, Joint hemorrhage, Epistaxis, Intracranial...	OMIM:227500
Agnathia-Otocephaly Complex	Wide nose, Respiratory distress, Synotia, Low-set ears, Narrow mouth, Mandibular aplasia, Conduct...	OMIM:202650
Kagami-Ogata Syndrome	Kyphoscoliosis, Retrognathia, Anteverted nares, Microtia, Diastasis recti, Hypoplasia of the maxi...	OMIM:608149
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Tremor, Macrotia, Motor stereotypy, Overweight, Micropenis, Self-mutilation	ORPHA:457240
Neuraminidase Deficiency	Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopathy, Ascites, Urinary ex...	OMIM:256550
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1	Bradykinesia, Apraxia, Spasticity, Rigidity, Dysphagia, Parkinsonism	OMIM:221820
Diaphragmatic Hernia 2	Congenital diaphragmatic hernia, Agenesis of the diaphragm	OMIM:222400
Juvenile Neuronal Ceroid Lipofuscinosis	Clumsiness, Poor fine motor coordination, Poor motor coordination, Optic disc pallor, Myoclonic s...	ORPHA:79264
Neonatal Lupus Erythematosus	Aplastic anemia, Hepatomegaly, Anemia, Prolonged QT interval, Heart block, Pancytopenia, Abnormal...	ORPHA:398124
Lymphangiectasia, Intestinal	Stillbirth, Prominent floating ribs, Intestinal lymphangiectasia	OMIM:152800
Zaki Syndrome	Congenital diaphragmatic hernia, Sacral dimple, Wide nose, Short philtrum, Anteverted nares, Scol...	OMIM:619648
Albers-Schönberg Osteopetrosis	Hypocalcemia, Abnormal leukocyte morphology, Optic atrophy, Anemia	ORPHA:53
Portal Hypertension, Noncirrhotic, 2	Petechiae, Esophageal varix, Portal hypertension, Ecchymosis, Epistaxis, Splenomegaly, Thrombocyt...	OMIM:619463
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures	Agitation, Motor stereotypy, Aggressive behavior	OMIM:617171
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant	Atresia of the external auditory canal, Stenosis of the external auditory canal, Conductive heari...	OMIM:608257
Diaphragmatic Hernia, Congenital	Congenital diaphragmatic hernia	OMIM:142340
Epistaxis, Hereditary	Epistaxis	OMIM:132500
Diaphragmatic Hernia 3	Congenital diaphragmatic hernia	OMIM:610187
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Cardiomegaly, Renal cortical cysts, Vesicoureteral reflux, Cardiom...	OMIM:130650
Orofaciodigital Syndrome Xv	Anteverted nares, Low-set ears, Midline notch of upper alveolar ridge, Hydronephrosis, Lobulated ...	OMIM:617127
Mitochondrial Membrane Protein-Associated Neurodegeneration	Optic atrophy, Babinski sign, Bradykinesia, Urinary incontinence, Spasticity, Bowel incontinence,...	ORPHA:289560
Schilbach-Rott Syndrome	Long nose, Hypospadias, Microtia, Narrow mouth, Micrognathia, Bifid uvula, Posteriorly rotated ea...	OMIM:164220
Intellectual Developmental Disorder, Autosomal Dominant 64	Hypertonia, Short philtrum, Anteverted nares, High palate, Low-set ears, Synophrys, Micrognathia,...	OMIM:619188
Mandibulofacial Dysostosis, Guion-Almeida Type	Short nose, Esophageal atresia, Telecanthus, Respiratory distress, Anteverted nares, Microtia, Lo...	OMIM:610536
Craniosynostosis, Herrmann-Opitz Type	Short nose, Abnormal antihelix morphology, Microtia, Abnormality of the upper urinary tract, Micr...	ORPHA:2145
Pseudo-Torch Syndrome 3	Acute kidney injury, Anemia, Hypertension, Lymphadenitis, Leukocytosis, Cerebral hemorrhage, Prot...	OMIM:618886
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Hypertonia, Central apnea, Death in infancy	OMIM:611722
Trisomy 8P	Retrognathia, Abnormal middle ear morphology, Aplasia/Hypoplasia of the tragus, Nephrocalcinosis,...	ORPHA:264450
Acquired Von Willebrand Syndrome	Prolonged prothrombin time, Gastrointestinal hemorrhage, Normocytic anemia, Hematuria, Aortic reg...	ORPHA:99147
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Thin vermilion border, Short philtrum, Respiratory distress, Macrotia, Micrognathia, Aplasia/Hypo...	ORPHA:261304
Fragile X Syndrome	Hyperactivity, Recurrent hand flapping, Macrotia, Abnormal head movements, Self-biting	OMIM:300624
Cardiospondylocarpofacial Syndrome	Conductive hearing impairment	ORPHA:3238
46,Xy Sex Reversal 4	Recurrent otitis media, Sensorineural hearing impairment, Microtia, Anteverted nares, High palate...	OMIM:154230
T-Cell Immunodeficiency With Thymic Aplasia	Chronic diarrhea, Lymphopenia, T lymphocytopenia, Hepatosplenomegaly, Aplasia of the thymus, Abno...	OMIM:242700
Acquired Idiopathic Sideroblastic Anemia	Congestive heart failure, Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic a...	ORPHA:75564
H Syndrome	Abnormality of the kidney, Enlarged kidney, Lymphadenopathy, Abnormal cardiovascular system physi...	ORPHA:168569
Achondrogenesis, Type Ia	Broad clavicles, Abnormal hand bone ossification, Short ribs, Decreased skull ossification, Hypop...	OMIM:200600
Andersen-Tawil Syndrome	Prolonged QT interval, Polymorphic ventricular tachycardia, Prominent U wave, Dental crowding, Pr...	ORPHA:37553
Tropical Endomyocardial Fibrosis	Left atrial enlargement, P pulmonale, Abnormal ST segment, Ascites, Splenomegaly, Prolonged QRS c...	ORPHA:75565
Tremor, Hereditary Essential, 5	Bradykinesia, Intention tremor, Tongue tremor, Postural tremor, Kinetic tremor	OMIM:616736
Aromatic L-Amino Acid Decarboxylase Deficiency	Babinski sign, Torticollis, Gastroesophageal reflux, Limb hypertonia, Diarrhea, Athetosis, Nasal ...	OMIM:608643
Autism, Susceptibility To, X-Linked 2	Inflexible adherence to routines, Restrictive behavior, Motor stereotypy	OMIM:300495
Spastic Paraplegia 16, X-Linked	Urinary incontinence, Facial hypotonia, Lower limb amyotrophy, Urinary bladder sphincter dysfunct...	OMIM:300266
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Congestive heart failure, Macroorchidism	OMIM:300886
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Retrognathia, Unilateral renal agenesis, Highly arched eyebrow, Low-set ears, High palate, Upslan...	OMIM:618142
Fibrochondrogenesis	Abnormal metaphysis morphology, Abnormal diaphysis morphology, Bell-shaped thorax, Narrow chest, ...	ORPHA:2021
Naxos Disease	Congestive heart failure, Right ventricular cardiomyopathy, Cardiomegaly, Paroxysmal ventricular ...	OMIM:601214
Cardiomyopathy, Dilated, 1E	Atrial flutter, Left bundle branch block, Reduced left ventricular ejection fraction, Atrial fibr...	OMIM:601154
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Intestinal lymphangiectasia, Anemia, Hypocalcemia, Decreased proportion of C...	ORPHA:90362
Robinow Syndrome	Kyphoscoliosis, Midface retrusion, Mixed hearing impairment, Broad alveolar ridges, Dental crowdi...	ORPHA:97360
Biotinidase Deficiency	Optic atrophy, Diarrhea, Sensorineural hearing impairment, Organic aciduria, Vomiting, Apnea, Ata...	OMIM:253260
Faciodigitogenital Syndrome, Autosomal Recessive	Narrow palate, Short nose, Anteverted nares, Microtia, Pollakisuria, High palate, Camptodactyly, ...	OMIM:227330
Autosomal Dominant Striatal Neurodegeneration	Bradykinesia, Dysdiadochokinesis, Dysphagia, Rigidity	ORPHA:228169
Rapp-Hodgkin Syndrome	Decreased number of sweat glands, Microdontia, Bifid uvula, Small, conical teeth, Narrow nose, Ta...	OMIM:129400
Raine Syndrome	Midface retrusion, Mixed hearing impairment, Abnormal pinna morphology, Microdontia, Death in inf...	OMIM:259775
Leukodystrophy, Hypomyelinating, 4	Babinski sign, Progressive spasticity, Ethylmalonic aciduria, Spastic paraplegia, Head titubation...	OMIM:612233
Mu-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Bence Jones Proteinuria, Splenomegaly, Abnormal B cell cou...	ORPHA:100024
Igg4-Related Submandibular Gland Disease	Enlarged lacrimal glands, Abnormal salivary gland morphology, Abnormal pancreas morphology, Lymph...	ORPHA:449432
Juvenile Huntington Disease	Bradykinesia, Progressive cerebellar ataxia, Chorea, Gait ataxia, Rigidity, Ataxia, Myoclonus	ORPHA:248111
Autoimmune Hypoparathyroidism	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany	ORPHA:36913
Thoracolaryngopelvic Dysplasia	Bell-shaped thorax, Hypoplastic iliac wing, Short ribs, Hypoplastic pelvis, Irregular chondrocost...	OMIM:187760
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Delayed puberty, Xanthelasma, Enlarged kidney, Tubulointerstitial fibrosis, Hypertension, Chronic...	ORPHA:79259
13Q12.3 Microdeletion Syndrome	Congenital diaphragmatic hernia, Chronic otitis media, Kyphoscoliosis, Low insertion of columella...	ORPHA:412035
49,Xxxyy Syndrome	Low-set, posteriorly rotated ears, Mandibular prognathia, Abnormality of the testis size, Decreas...	ORPHA:261534
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Narrow chest, Femoral bowing, Glossoptosis, Dumbbell-shaped long bone, Metaphyseal widening, Clef...	ORPHA:440354
Brachytelephalangic Chondrodysplasia Punctata	Short nose, Mixed hearing impairment, Gastroesophageal reflux, Optic nerve hypoplasia, Hypoplasti...	ORPHA:79345
Oculodentodigital Dysplasia, Autosomal Recessive	Long nose, Hypoplasia of the primary teeth, Long philtrum, Thin vermilion border, Delayed eruptio...	OMIM:257850
Cardiac Arrhythmia, Ankyrin-B-Related	Prolonged QT interval, Atrial fibrillation, Sinus bradycardia, Syncope, Sudden cardiac death	OMIM:600919
Bleeding Disorder, Platelet-Type, 25	Excessive bleeding from superficial cuts, Post-partum hemorrhage, Spontaneous, recurrent epistaxi...	OMIM:620486
Joubert Syndrome 23	Sensorineural hearing impairment, Tachypnea, Apnea	OMIM:616490
X-Linked Agammaglobulinemia	Anemia, Hypocalcemia, Abnormality of the tonsils, Abnormality of the lymphatic system, Thrombocyt...	ORPHA:47
Distal Duplication 18Q	Short nose, Low-set, posteriorly rotated ears, Hypoplasia of penis, Anteverted nares, High palate...	ORPHA:1716
Hemiparkinsonism-Hemiatrophy Syndrome	Bradykinesia, Tremor, Hemiatrophy, Hemiparesis, Parkinsonism	ORPHA:306669
Joubert Syndrome 7	Nephronophthisis, Oculomotor apraxia, Encephalocele, Renal cyst, Ptosis, Ataxia, Tachypnea, Stage...	OMIM:611560
Neuroocular Syndrome	Unilateral deafness, Anterior creases of earlobe, Low-set ears, Cupped ear	OMIM:619539
Spondylometaphyseal Dysplasia, Kozlowski Type	Narrow greater sciatic notch, Carpal bone hypoplasia, Cone-shaped epiphyses of the phalanges of t...	OMIM:184252
Bernard-Soulier Syndrome	Hematemesis, Spontaneous hematomas, Gastrointestinal hemorrhage, Abnormal bleeding, Giant platele...	ORPHA:274
Leukocyte Adhesion Deficiency, Type Iii	Abnormal bleeding, Abnormal lymph node morphology, Anemia, Petechiae, Leukocytosis, Epistaxis, He...	OMIM:612840
Hemorrhagic Fever-Renal Syndrome	Hematemesis, Decreased glomerular filtration rate, Decreased urine output, Hypertension, Hyperhid...	ORPHA:340
Thrombocytopenia 5	Anemia, Petechiae, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Epistaxis, ...	OMIM:616216
Craniorachischisis	Congenital diaphragmatic hernia, Anal atresia, Bifid sternum	ORPHA:63260
Immunodeficiency 52	Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ...	OMIM:617514
Juberg-Hayward Syndrome	Hypoplasia of the radius, Orofacial cleft, Abnormality of the wrist, Abnormal metacarpal morpholo...	ORPHA:2319
Holzgreve Syndrome	Abnormal metacarpal morphology, Abnormally ossified vertebrae, Abnormal rib morphology, Joint sti...	ORPHA:2167
Immunodeficiency 16	Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia	OMIM:615593
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Clinodactyly of the 5th finger, Abnormality of the philtrum, Missing ribs, Abnormal rib morpholog...	ORPHA:2759
Otospondylomegaepiphyseal Dysplasia	Midface retrusion, Abnormal vertebral morphology, Platyspondyly, Anteverted nares, Sensorineural ...	ORPHA:1427
Chromosome 1Q41-Q42 Deletion Syndrome	Congenital diaphragmatic hernia, Microtia, Short philtrum, Anteverted nares, Scoliosis, Cleft pal...	OMIM:612530
Martsolf Syndrome 1	Long philtrum, Joint hypermobility, Prominent antitragus, Short philtrum, Tooth malposition, Broa...	OMIM:212720
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Short 4th metacarpal, High, narrow palate, Joint dislocation, Hypodontia, Tapered finger, Glossop...	ORPHA:3201
Sepsis In Premature Infants	Jaundice, Anemia, Hepatomegaly, Bradycardia, Oliguria, Leukocytosis, Hypotension, Thrombocytopeni...	ORPHA:90051
Shprintzen-Goldberg Craniosynostosis Syndrome	Dislocated radial head, Abnormal pinna morphology, Umbilical hernia, Joint hypermobility, Cranios...	OMIM:182212
Biotinidase Deficiency	Optic atrophy, Respiratory distress, Sensorineural hearing impairment, Organic aciduria, Optic ne...	ORPHA:79241
Hyperphenylalaninemia, Bh4-Deficient, A	Bradykinesia, Hypertonia, Limb hypertonia, Tremor, Rigidity, Ataxia, Dysphagia, Parkinsonism, Cho...	OMIM:261640
Spondylometaphyseal Dysplasia, A4 Type	Short palm, Flared, irregular rib ends, Limitation of joint mobility, Coxa vara	ORPHA:168555
Hypomandibular Faciocranial Dysostosis	Hypoplasia of the maxilla, Coronal craniosynostosis, Micrognathia, Choanal stenosis, Malar flatte...	OMIM:241310
Robinow Syndrome, Autosomal Dominant 2	Mixed hearing impairment, Sensorineural hearing impairment, Dental crowding, Mesomelia, Wide mout...	OMIM:616331
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Koolen-De Vries Syndrome	Spondylolisthesis, Everted lower lip vermilion, Kyphosis, Joint hypermobility, Hip dislocation, N...	OMIM:610443
Fetal Encasement Syndrome	Congenital diaphragmatic hernia, Upper limb undergrowth, Lower limb undergrowth	OMIM:613630
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Enlarged kidney, Transposition of the great arteries, Atrioventricular canal defect, Dextrocardia...	OMIM:314390
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Bradykinesia, Slowed slurred speech, Thick vermilion border, Nephrolithiasis	OMIM:619827
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Recurrent otitis media, Maturity-onset diabetes of the young, Short philtrum, Wide nose, Antevert...	ORPHA:96184
Stankiewicz-Isidor Syndrome	Retrognathia, Ureteral duplication, Hypospadias, Low-set ears, Abnormal optic disc morphology, He...	OMIM:617516
Metaphyseal Chondrodysplasia, Schmid Type	Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Femoral bowing, Short l...	ORPHA:174
Lessel-Kubisch Syndrome	Renal hypoplasia, Renal insufficiency	OMIM:618681
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Abnormal bone ossification, Abnormal diaphysis morphology, Generalized bone demineralization, Nar...	ORPHA:73230
Microscopic Polyangiitis	Congestive heart failure, Gastrointestinal hemorrhage, Glomerulopathy, Hematuria, Pancreatitis, D...	ORPHA:727
Igg4-Related Dacryoadenitis And Sialadenitis	Enlarged lacrimal glands, Abnormal salivary gland morphology, Keratoconjunctivitis sicca, Lymphad...	ORPHA:79078
Necrotizing Enterocolitis	Shock, Bradycardia, Leukocytosis, Hypotension, Ascites, Abnormal heart morphology, Thrombocytopen...	ORPHA:391673
Cat-Eye Syndrome	Anal atresia, Abnormal rib morphology, Hip dysplasia	ORPHA:195
Ohdo Syndrome, Sbbys Variant	Hypospadias, Blepharophimosis, Low-set ears, Microdontia, Bulbous nose, Hearing impairment, Hypot...	OMIM:603736
Achondrogenesis Type 1B	Narrow chest, Short thorax, Abnormal rib morphology, Abnormal enchondral ossification, Long philt...	ORPHA:93298
Fraser Syndrome 2	Unilateral renal agenesis, Wide nose, Bilateral renal agenesis, Low-set ears, Narrow mouth, Anal ...	OMIM:617666
Parkinson Disease 5, Autosomal Dominant, Susceptibility To	Bradykinesia, Rigidity, Parkinsonism with favorable response to dopaminergic medication	OMIM:613643
Propionic Acidemia	Cerebellar hemorrhage, Increased level of hippuric acid in urine, Pancreatitis, Anemia, Limb hype...	OMIM:606054
Zimmermann-Laband Syndrome	Supernumerary tooth, Wide nose, Gingival fibromatosis, Anterior open-bite malocclusion, Sensorine...	ORPHA:3473
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Recurrent otitis media, Low-set ears, Renal hypoplasia, Absence of renal corticomedullary differe...	OMIM:619758
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Anteverted nares, Abnormal pinna morphology, Hypoplasia of the maxilla, Posteriorly rotated ears,...	ORPHA:228396
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly	OMIM:619175
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Presyncope, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Premature v...	OMIM:604400
Melnick-Needles Syndrome	Abnormal metaphysis morphology, Osteolytic defects of the phalanges of the hand, Abnormal cortica...	ORPHA:2484
Cach Syndrome	Optic atrophy, Limb ataxia, Truncal ataxia, Renal hypoplasia, Dysphagia, Dysmetria	ORPHA:135
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231393
German Syndrome	Orofacial cleft, Hearing abnormality, High palate, Everted lower lip vermilion, Synophrys, Arthro...	ORPHA:2077
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Enlarged kidney, Hypertension, Cholestasis, Ascites, Biliary hyperpl...	ORPHA:731
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Everted upper lip vermilion, Supernumerary nipple, Unilateral renal agenesis, Short philtrum, Hig...	OMIM:619951
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Cholelithiasis, Normochromic anemia, Bradycardia, Hypertrophic card...	OMIM:618775
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E...	OMIM:603902
Cardioacrofacial Dysplasia 1	Midface retrusion, Genu valgum, Short philtrum, Conical tooth, Hypoplasia of the maxilla, Overhan...	OMIM:619142
Trisomy 13	Optic atrophy, High, narrow palate, Abnormal antihelix morphology, Sensorineural hearing impairme...	ORPHA:3378
Donnai-Barrow Syndrome	Congenital diaphragmatic hernia, Short nose, Sensorineural hearing impairment, Wide anterior font...	ORPHA:2143
Arnold-Chiari Malformation Type I	Abnormality of the musculature of the lower limbs, Urinary incontinence, Cervical C2/C3 vertebral...	ORPHA:268882
Factor V Deficiency	Prolonged prothrombin time, Abnormal bleeding, Menorrhagia, Epistaxis, Bruising susceptibility, P...	OMIM:227400
Achondrogenesis, Type Ii	Short tubular bones of the hand, Stillbirth, Barrel-shaped chest, Hypoplastic iliac wing, Short r...	OMIM:200610
Complete Atrioventricular Septal Defect	Third heart sound, Left-to-right shunt, Cardiomegaly, Pulmonary venous hypertension, Abnormal car...	ORPHA:1329
Matthew-Wood Syndrome	Vesicoureteral reflux, Low-set ears, Failure to thrive, Renal hypoplasia, Horseshoe kidney	ORPHA:2470
Klippel-Feil Syndrome 3, Autosomal Dominant	Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion	OMIM:613702
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Polymorphic ventricular tachycardia, Prolonged QT interval, Paroxysmal ventricular tachycardia, P...	OMIM:614021
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Prolonged prothrombin time, Short nose, Abnormal bleeding, Joint hemorrhage, Epistaxis, Cerebral ...	OMIM:277450
Spondylometaphyseal Dysplasia, Axial	Narrow greater sciatic notch, Narrow chest, Coxa vara, Anterior rib cupping, Thoracic hypoplasia,...	OMIM:602271
Diamond-Blackfan Anemia 10	Congenital diaphragmatic hernia, Anemia, Ectopic kidney, Macrocytic anemia, Respiratory distress,...	OMIM:613309
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Renal tubular ...	OMIM:613092
Atypical Rett Syndrome	Pill-rolling tremor, Sudden episodic apnea, Apraxia, Spasticity, Tremor, Limb myoclonus, Abnormal...	ORPHA:3095
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome	Gastritis, Hypospadias, Telecanthus, Glandular hypospadias, Diarrhea, Megaloblastic anemia, Folat...	ORPHA:2575
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency	Gastrointestinal hemorrhage, Epidural hemorrhage, Post-partum hemorrhage, Intramuscular hematoma,...	ORPHA:465
Intellectual Developmental Disorder With Autism And Speech Delay	Motor stereotypy	OMIM:606053
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Congenital diaphragmatic hernia, Narrow palate, Abnormal palate morphology, Abnormality of the wr...	ORPHA:2063
Autosomal Dominant Hypophosphatemic Rickets	Hypocalcemia, Iron deficiency anemia, Hypophosphatemia	ORPHA:89937
Osteopetrosis, Autosomal Recessive 1	Optic atrophy, Hepatomegaly, Anemia, Pancytopenia, Hypocalcemia, Thrombocytopenia, Splenomegaly	OMIM:259700
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Narrow greater sciatic notch, Genu valgum, Delayed pubic bone ossification, Metaphyseal dappling,...	OMIM:184250
Meckel Syndrome 12	Anteverted nares, Bilateral renal agenesis, Low-set ears, Ureteral hypoplasia, Renal hypoplasia, ...	OMIM:616258
Renal Hypodysplasia/Aplasia 3	Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Abnormality of the uterus, Renal dysplasia...	OMIM:617805
Simpson-Golabi-Behmel Syndrome	Congenital diaphragmatic hernia, Ureteral duplication, Hypoplasia of penis, Death in infancy, Acc...	ORPHA:373
Johnson Neuroectodermal Syndrome	Microtia, Facial palsy, Atresia of the external auditory canal, Conductive hearing impairment, Pr...	ORPHA:2316
Immunodeficiency 108 With Autoinflammation	Impaired neutrophil chemotaxis, Epistaxis, Recurrent aphthous stomatitis, Hyposegmentation of neu...	OMIM:260570
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation	Hypomimic face, Dental crowding, Gait ataxia, Central apnea, Dysmetria	ORPHA:320385
Tyrosinemia Type 1	Splenomegaly, Hepatomegaly, Hepatocellular carcinoma, Generalized aminoaciduria	ORPHA:882
Ritscher-Schinzel Syndrome 1	Decreased response to growth hormone stimulation test, Hypospadias, Hydrocephalus, Adrenal hypopl...	OMIM:220210
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Macrovesicular hepatic steatosis, Cardiomegaly, Ventricular tachycardia, Dilated ca...	OMIM:600649
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Superior rib anomalies	OMIM:307500
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto...	OMIM:614470
Orofaciodigital Syndrome Iv	Short finger, Hamartoma of tongue, Tongue nodules, High palate, Pectus excavatum, Foot polydactyl...	OMIM:258860
Prothrombin Deficiency, Congenital	Prolonged prothrombin time, Gastrointestinal hemorrhage, Gingival bleeding, Menorrhagia, Joint he...	OMIM:613679
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Exaggerated cupid's bow, Diastasis recti, Wrist flexion contracture, Camptodactyly, Pectus excava...	ORPHA:254528
Trisomy 12P	Short nose, Abnormal antihelix morphology, Abnormality of the urinary system, Low-set ears, Evert...	ORPHA:1699
Microcephaly 3, Primary, Autosomal Recessive	Sensorineural hearing impairment, Mixed hearing impairment	OMIM:604804
Mesomelia-Synostoses Syndrome	High, narrow palate, Telecanthus, Aplasia/Hypoplasia of the uvula, Narrow mouth, Micromelia, Hear...	ORPHA:2496
Ring Chromosome 10 Syndrome	Thin vermilion border, Aganglionic megacolon, Renal hypoplasia/aplasia, Abnormal antihelix morpho...	ORPHA:1438
Acrofacial Dysostosis, Palagonia Type	Supernumerary tooth, High, narrow palate, Short 4th metacarpal, Spina bifida occulta, Oligodontia...	ORPHA:1787
Huntington Disease	Bradykinesia, Chorea, Rigidity, Gait ataxia	OMIM:143100
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Renal hypoplasia, Abnormal pinna morphology	ORPHA:75389
Joubert Syndrome 18	Kyphoscoliosis, Retrognathia, Occipital encephalocele, Renal cyst, Camptodactyly, Cleft palate, L...	OMIM:614815
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Abnormality of the kidney, Mild hearing impairment, Widely spaced teeth, Hydrocephalus, Low-set e...	ORPHA:459061
Thanatophoric Dysplasia, Type Ii	Narrow chest, Short greater sciatic notch, Flared metaphysis, Wide-cupped costochondral junctions...	OMIM:187601
Neuropathy, Congenital Hypomyelinating, 3	Narrow palate, Babinski sign, Hypomimic face, Retrognathia, Gastroesophageal reflux, Gingival ove...	OMIM:618186
Kleefstra Syndrome 1	Midface retrusion, Hypospadias, Anteverted nares, Mandibular prognathia, Abnormal pinna morpholog...	OMIM:610253
Chromosome 1P36 Deletion Syndrome, Distal	Orofacial cleft, Bifid ribs, Clinodactyly of the 5th finger, 11 pairs of ribs, Abnormality of the...	OMIM:607872
Intellectual Developmental Disorder, Autosomal Dominant 73	Long nose, Retrognathia, Highly arched eyebrow, Microtia, Everted lower lip vermilion, Broad phil...	OMIM:620450
Omodysplasia 2	Fibular hypoplasia, Recurrent otitis media, Hypospadias, Gastroesophageal reflux, Bifid nasal tip...	OMIM:164745
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Restricted large joint movement, Abnormal vertebral morphology, Maternal diabetes, Cervical insta...	ORPHA:93346
Spondyloepimetaphyseal Dysplasia, Irapa Type	Limited elbow extension, Genu valgum, Enlargement of the costochondral junction, Short metatarsal...	OMIM:271650
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventricular eje...	OMIM:614096
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Bilateral ptosis, Highly arched eyebrow, Abnormal oral frenulum morphology, Intestinal malrotatio...	ORPHA:404440
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Kyphoscoliosis, Mandibular prognathia, Overfolded helix, Everted lower lip vermilion, Protruding ...	ORPHA:324410
Papillorenal Syndrome	Hematuria, Horseshoe kidney, Sensorineural hearing impairment, Vesicoureteral reflux, Mild protei...	OMIM:120330
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Kyphoscoliosis, HbH hemoglobin, Midface retrusion, Sensorineural hearing impairment, Microtia, Ky...	OMIM:301040
Isolated Cleft Lip	Chronic otitis media, Conductive hearing impairment, Abnormal Eustachian tube morphology	ORPHA:199302
Isotretinoin Syndrome	Spina bifida occulta, Microtia, Micrognathia, Cleft palate, Abnormality of the outer ear, Depress...	ORPHA:2305
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Arrhythmia, Cardiomyopathy, Hypogonadism, Bradycardia	OMIM:609286
8p23.1 deletion syndrome	Congenital diaphragmatic hernia	DECIPHER:39
Neurofibroma	Kyphoscoliosis, Recurrent otitis media, Multiple intestinal neurofibromatosis, Spinal canal steno...	ORPHA:252183
Isolated Right Ventricular Hypoplasia	Abnormal atrioventricular conduction, Congestive heart failure, Bidirectional shunt, Muscular ven...	ORPHA:439
Humero-Radio-Ulnar Synostosis	Aplasia/Hypoplasia of the thumb, Abnormality of the upper urinary tract, Abnormality of the ureter	ORPHA:3266
Microphthalmia, Syndromic 3	Hypospadias, Patent ductus arteriosus, Sensorineural hearing impairment, Anterior pituitary hypop...	OMIM:206900
Unilateral Polymicrogyria	Poor fine motor coordination, Involuntary movements, Hemiparesis, Apnea, Epistaxis, Giant somatos...	ORPHA:268943
Mitochondrial Dna-Associated Leigh Syndrome	Optic atrophy, Abnormal renal tubule morphology, Hypertonia, Multiple glomerular cysts, Episodic ...	ORPHA:255210
Huntington Disease-Like 1	Bradykinesia, Chorea, Incoordination, Poor fine motor coordination, Frequent falls, Gait ataxia, ...	ORPHA:157941
Schneckenbecken Dysplasia	Lateral clavicle hook, Stillbirth, Narrow chest, Snail-like ilia, Short ribs, Flat acetabular roo...	OMIM:269250
Congenital Toxoplasmosis	Jaundice, Anemia, Lymphadenopathy, Hepatomegaly, Ascites, Thrombocytopenia, Cardiomegaly	ORPHA:858
Noonan Syndrome 4	Bilateral ptosis, Abnormal bleeding, Ureteral duplication, Low-set ears, Hypertrophic cardiomyopa...	OMIM:610733
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Short nose, Anteverted nares, Low-set ears, Protruding tongue, Sinusitis, T lymphocytopenia, Micr...	OMIM:242860
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Bradykinesia, Hypertonia, Hyperkinetic movements, Abnormality of extrapyramidal motor function, C...	ORPHA:13
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Asteroid hyalosis, Cystoid macular edema, Optic disc dru...	OMIM:600059
Premature Aging Syndrome, Penttinen Type	Midface retrusion, Retrognathia, Sensorineural hearing impairment, Aplasia of the nasal bone, Del...	OMIM:601812
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Decreased pineal volume, Death in childhood, Focal segmental glomerulosclerosis, Hypoplasia of th...	OMIM:301108
Kabuki Syndrome 2	Highly arched eyebrow, Pulmonic stenosis, Short 5th finger, Depressed nasal tip, Hearing impairme...	OMIM:300867
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Thin ribs, Short ribs, Missing ribs, Anal atresia, Block vertebrae, Rib fusion, Vertebral fusion	OMIM:271520
Idiopathic Congenital Hypothyroidism	Prolonged neonatal jaundice, Bradycardia	ORPHA:95717
Polycythemia Vera	Gastrointestinal hemorrhage, Increased red blood cell mass, Leukocytosis, Cerebral ischemia, Budd...	OMIM:263300
Paternal Uniparental Disomy Of Chromosome 1	Enlarged kidney, Hypertension, Episodic hemolytic anemia, Macroscopic hematuria, Proteinuria, Mem...	ORPHA:251004
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Retrognathia, Scoliosis, Glossoptosis, Knee dislocation, Lumbar scoliosis, Pierre-Robin sequence,...	OMIM:620269
Chromosome 19Q13.11 Deletion Syndrome, Distal	Retrognathia, Solitary median maxillary central incisor, Hypospadias, Short philtrum, Anteverted ...	OMIM:613026
Intellectual Developmental Disorder, Autosomal Dominant 22	Long nose, Short palpebral fissure, Short philtrum, Telecanthus, Highly arched eyebrow, Gastroeso...	OMIM:612337
Parkinsonism-Dystonia 1, Infantile-Onset	Bradykinesia, Hypomimic face, Hypertonia, Hyperkinetic movements, Gastroesophageal reflux, Chorea...	OMIM:613135
Pelvis-Shoulder Dysplasia	Aplasia/hypoplasia of the femur, Long clavicles, Prominent protruding coccyx, Bell-shaped thorax,...	ORPHA:2839
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Femoral bowing, Short ribs, Short long bone, Absent tibia, Intestinal malrotation, Thoracic hypop...	OMIM:613091
Delayed Encephalopathy Due To Carbon Monoxide Poisoning	Bradykinesia, Rigidity	ORPHA:306686
Trisomy 1Q	Congenital diaphragmatic hernia, Wide nose, Congenital megaureter, Hydrocephalus, Low-set ears, N...	ORPHA:261344
Developmental Delay And Seizures With Or Without Movement Abnormalities	Bradykinesia, Rigidity, Tremor, Ataxia	OMIM:617836
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Narrow greater sciatic notch, Limited elbow extension, Irregular epiphyses, Dysplastic iliac wing...	OMIM:608728
Adams-Oliver Syndrome 6	Truncus arteriosus, Tricuspid regurgitation, Portal hypertension, Renal hypoplasia, Splenomegaly,...	OMIM:616589
Ivic Syndrome	Limited elbow movement, Intestinal malrotation, Absent thumb, Hypoplasia of the ulna, Hypoplasia ...	OMIM:147750
Monosomy 18P	Short philtrum, Tooth malposition, Abnormal antihelix morphology, Hypodontia, Hypertension, Hypot...	ORPHA:1598
Gaucher Disease, Type I	Anemia, Pancytopenia, Hypertension, Dyspnea, Pulmonary arterial hypertension, Aortic valve stenos...	OMIM:230800
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Cardiomyopathy, Splenomegaly, Hypogonadism	OMIM:608540
Developmental And Epileptic Encephalopathy 58	Optic atrophy, Motor stereotypy	OMIM:617830
Nasopalpebral Lipoma-Coloboma Syndrome	Low-set ears, Hypoplasia of the maxilla, Conjunctival hyperemia, Wide nasal bridge, Depressed nas...	OMIM:167730
Eales Disease	Ischemic stroke, Peripheral retinal neovascularization, Transient ischemic attack, Constipation, ...	ORPHA:40923
Femoral-Facial Syndrome	Limited elbow movement, Aplasia/hypoplasia of the femur, Short humerus, Syndactyly, Long philtrum...	OMIM:134780
Gaucher Disease Type 2	Hepatomegaly, Cardiac arrest, Splenomegaly	ORPHA:77260
Craniolenticulosutural Dysplasia	Thin vermilion border, Wide nose, Delayed eruption of teeth, Premature loss of teeth, Scoliosis, ...	ORPHA:50814
Alagille Syndrome	Delayed puberty, Long nose, Hypoplasia of the ulna, Renal hypoplasia/aplasia, Short philtrum, Spi...	ORPHA:52
Hemophilia A	Hematemesis, Purpura, Melena, Muscle hemorrhage, Petechiae, Gingival bleeding, Joint hemorrhage, ...	OMIM:306700
Combined Oxidative Phosphorylation Deficiency 11	Renal tubular acidosis, Renal cyst, Hearing impairment, Renal hypoplasia, Renal dysplasia, Renal ...	OMIM:614922
Huntington Disease-Like 2	Action tremor, Chorea, Rigidity, Bradykinesia	OMIM:606438
19P13.3 Microduplication Syndrome	Short philtrum, Telecanthus, Episodic vomiting, Gastroesophageal reflux, Microtia, Low-set ears, ...	ORPHA:447980
Eiken Syndrome	Delayed ossification of carpal bones, Eruption failure, Flat acetabular roof, Broad metatarsal, M...	OMIM:600002
Donnai-Barrow Syndrome	Congenital diaphragmatic hernia, Short nose, Midface retrusion, Sensorineural hearing impairment,...	OMIM:222448
Hermansky-Pudlak Syndrome 6	Absent platelet dense granules, Urinary incontinence, Recurrent urinary tract infections, Neuroge...	OMIM:614075
Galactosemia Iii	Jaundice, Hepatomegaly, Galactosuria, Splenomegaly, Aminoaciduria	OMIM:230350
Chromosome 18P Deletion Syndrome	Hypomimic face, Tooth malposition, Anteverted nares, High palate, Depressed nasal ridge, Decrease...	OMIM:146390
Hyperbilirubinemia, Shunt, Primary	Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid...	OMIM:237800
Carey-Fineman-Ziter Syndrome	Short nose, Aplasia of the pectoralis major muscle, Thin vermilion border, Glandular hypospadias,...	ORPHA:1358
Igg4-Related Kidney Disease	Enlarged kidney, Sclerosing cholangitis, Pericarditis, Cholecystitis, Urinary bladder inflammatio...	ORPHA:449395
Microphthalmia With Limb Anomalies	Abnormal form of the vertebral bodies, Death in infancy, Hypoplasia of the premaxilla, Long philt...	ORPHA:1106
Mucopolysaccharidosis Type 6	Abnormal metaphysis morphology, Genu valgum, Thick lower lip vermilion, Epiphyseal dysplasia, Joi...	ORPHA:583
Wolfram Syndrome	Delayed puberty, Optic atrophy, Gastrointestinal hemorrhage, Male hypogonadism, Anemia, Gastric u...	ORPHA:3463
Mucopolysaccharidosis, Type X	Genu valgum, Widely spaced teeth, Spatulate ribs, Broad clavicles, Open bite, Irregular acetabula...	OMIM:619698
Multiple System Atrophy 1, Susceptibility To	Bradykinesia, Babinski sign, Urinary incontinence, Orthostatic hypotension, Tremor, Abnormal auto...	OMIM:146500
Immunodeficiency 76	Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia	OMIM:619164
Babesiosis	Congestive heart failure, Myocardial infarction, Jaundice, Hepatomegaly, Leukopenia, Splenomegaly...	ORPHA:108
Immunodeficiency 84	B lymphocytopenia, Splenomegaly, Perianal abscess	OMIM:619437
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Coat hanger sign of ribs, Diastasis recti, Thoracic hypoplasia	ORPHA:254534
Squalene Synthase Deficiency	Retrognathia, Hypospadias, Knee flexion contracture, Optic nerve hypoplasia, Elevated urine mesac...	OMIM:618156
Pfeiffer Syndrome	Short nose, Hydrocephalus, Dental crowding, Mandibular prognathia, High palate, Choanal atresia, ...	OMIM:101600
Contractures-Developmental Delay-Pierre Robin Syndrome	High, narrow palate, Abnormal columella morphology, Hypospadias, Microtia, Glossoptosis, Wrist fl...	ORPHA:436003
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Retrognathia, Thin vermilion border, Death in childhood, Hydrocephalus, Sensorineural hearing imp...	OMIM:612938
Holt-Oram Syndrome	Abnormal clavicle morphology, Triphalangeal thumb, Abnormal metacarpal morphology, Finger syndact...	ORPHA:392
Episodic Ataxia Type 4	Vertigo, Abnormal head movements, Ataxia	ORPHA:79136
Myasthenic Syndrome, Congenital, 24, Presynaptic	Oculomotor apraxia, Camptodactyly, Ptosis, Apnea, Dysphagia, Distal arthrogryposis, Knee flexion ...	OMIM:618198
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Congenital diaphragmatic hernia, Mixed hearing impairment, Macrocytic anemia, Respiratory distres...	OMIM:606164
Immunodeficiency 69	Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy...	OMIM:618963
Pontocerebellar Hypoplasia Type 2	Babinski sign, Gastroesophageal reflux, Oral-pharyngeal dysphagia, Spasticity, Lower limb hyperto...	ORPHA:2524
Jackson-Weiss Syndrome	Midface retrusion, Abnormal palate morphology, Mandibular prognathia, Hypoplasia of the maxilla, ...	ORPHA:1540
Benign Familial Neonatal Epilepsy	Limb myoclonus, Apnea, Gastroesophageal reflux, Clonus	ORPHA:1949
Developmental And Epileptic Encephalopathy 80	Death in infancy, Abnormal pinna morphology, Low-set ears, High palate, Upslanted palpebral fissu...	OMIM:618580
Zttk Syndrome	Thin vermilion border, Intestinal atresia, Short philtrum, High palate, Abnormality of the dentit...	OMIM:617140
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Highly arched eyebrow, Microdontia, Pulmonic stenosis, Long philtrum, Short 5th finger, Nasolacri...	OMIM:610759
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Midface retrusion, Decreased proportion of CD8-positive T cells, Wide anterior fontanel, Hypoplas...	OMIM:617241
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Anemia, Hypocalcemia, Retinal calcification, Papilledema, Hyperphosph...	OMIM:127000
Cowden Syndrome 5	Kyphosis, Thyroiditis, Scoliosis, High palate, Furrowed tongue, Narrow mouth, Hamartomatous polyp...	OMIM:615108
Neonatal Severe Primary Hyperparathyroidism	Aminoaciduria, Hepatomegaly, Splenomegaly	ORPHA:417
Congenital Anomalies Of Kidney And Urinary Tract 2	Hydroureter, Congenital megaureter, Renal hypoplasia, Ureteropelvic junction obstruction, Hydrone...	OMIM:143400
Danon Disease	Congestive heart failure, Wolff-Parkinson-White syndrome, Cardiomegaly, Atrial arrhythmia, Myocar...	OMIM:300257
Congenital Factor Xi Deficiency	Abnormal bleeding, Gastrointestinal hemorrhage, Menorrhagia, Joint hemorrhage, Epistaxis, Prolong...	ORPHA:329
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Narrow greater sciatic notch, Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic pub...	OMIM:609616
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Chronic otitis media, Small pituitary gland, Dental crowding, Thyroid hypoplasia, Upslanted palpe...	OMIM:619503
Cerebrofacioarticular Syndrome	Osteopenia, Caudal appendage, Anal stenosis, Bilateral choanal atresia/stenosis, Hypospadias, Tra...	ORPHA:314679
3P25.3 Microdeletion Syndrome	Sensorineural hearing impairment, Pulmonic stenosis, Ataxia, Short philtrum, Anteverted nares, Do...	ORPHA:435638
Multiple Pterygium-Malignant Hyperthermia Syndrome	Long philtrum, Advanced eruption of teeth, Congenital muscular torticollis, Finger syndactyly, Br...	ORPHA:2215
Larsen-Like Syndrome	Conductive hearing impairment, Recurrent otitis media, Low-set ears	OMIM:608545
Galactose Epimerase Deficiency	Aminoaciduria, Jaundice, Splenomegaly, Hepatomegaly	ORPHA:79238
Glycogen Storage Disease Ia	Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Hypertension, ...	OMIM:232200
Achondrogenesis Type 1A	Narrow chest, Short thorax, Recurrent fractures, Abnormal enchondral ossification, Short palm, Mu...	ORPHA:93299
Von Willebrand Disease, Type 3	Abnormal bleeding, Prolonged bleeding time, Menorrhagia, Joint hemorrhage, Epistaxis, Thrombocyto...	OMIM:277480
Stickler Syndrome	Chronic otitis media, Midface retrusion, Reduced bone mineral density, Spondylolisthesis, Abnorma...	ORPHA:828
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Ventricular arrhythmia, Ventricular tachycardia, Prolonged QRS ...	OMIM:611528
Hermansky-Pudlak Syndrome 1	Cardiomyopathy, Gingival bleeding, Inflammation of the large intestine, Epistaxis, Hematochezia, ...	OMIM:203300
Kimura Disease	Follicular hyperplasia, Eosinophilia, Abnormal salivary gland morphology, Lymphadenopathy	ORPHA:482
Gabriele-De Vries Syndrome	Tremor, Abnormality of the dentition, Downslanted palpebral fissures, Posteriorly rotated ears, B...	OMIM:617557
Rett Syndrome	Gastroesophageal reflux, Prolonged QTc interval, Truncal ataxia, Spasticity, Abnormality of the d...	OMIM:312750
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Short nose, Short philtrum, Anteverted nares, Low-set ears, Downturned corners of mouth, Lobulate...	OMIM:613443
Joubert Syndrome 10	Conductive hearing impairment, Low-set ears	OMIM:300804
Hereditary Orotic Aciduria	Oroticaciduria, Low-set, posteriorly rotated ears, Anemia, Abnormality of the ureter, Downslanted...	ORPHA:30
Charcot-Marie-Tooth Disease Type 1F	Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Weakness of facial mu...	ORPHA:101085
Branchioskeletogenital Syndrome	Mixed hearing impairment, Ureteral stenosis, Bifid uvula, Umbilical hernia, Craniosynostosis, Abn...	ORPHA:1299
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Acute kidney injury, Hepatomegaly, Hemolytic-uremic syndrome, Hematuria, Bradycardia, Cystathioni...	OMIM:277400
Genetic Recurrent Myoglobinuria	Hyperkalemia, Hypocalcemia, Fatigable weakness of swallowing muscles, Hyperphosphatemia, Highly e...	ORPHA:99845
Moebius Syndrome	Aplasia of the pectoralis major muscle, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the...	ORPHA:570
Zygomycosis	Hematemesis, Gastrointestinal hemorrhage, Sinusitis, Pericarditis, Epistaxis, Hematochezia, Neutr...	ORPHA:73263
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Perianal abscess, Sensorineural hearing impairment, Pulmonic stenosis, Leukopenia, Splenomegaly, ...	OMIM:612541
Dravet Syndrome	Bradykinesia, Incoordination, Poor fine motor coordination, Cogwheel rigidity, Action tremor, Rig...	ORPHA:33069
Hemihyperplasia-Multiple Lipomatosis Syndrome	Enlarged kidney, Abnormality of the lymphatic system, Telangiectasia of the skin, Nephroblastoma,...	ORPHA:276280
Autoimmune Lymphoproliferative Syndrome, Type Iii	Autoimmune hemolytic anemia, Stage 5 chronic kidney disease, Hepatomegaly, Mediastinal lymphadeno...	OMIM:615559
8Q21.11 Microdeletion Syndrome	Short philtrum, Hypoplasia of penis, Wide nose, Exaggerated cupid's bow, Low-set ears, Abnormalit...	ORPHA:284160
Autosomal Recessive Omodysplasia	Short nose, Rhizomelia, Pterygium, Anteverted nares, Low-set ears, Micromelia, Micrognathia, Meso...	ORPHA:93329
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Thin vermilion border, Hypertonia, Truncal titubation, Limb hypertonia, Tremor, High palate, Exag...	OMIM:618056
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Hypertonia, Recurrent otitis media, Hypoplastic nasal tip, High palate, Pulmonic stenosis, Macrot...	ORPHA:3304
Mucopolysaccharidosis Type 4	Abnormal metaphysis morphology, Grayish enamel, Genu valgum, Reduced bone mineral density, Joint ...	ORPHA:582
Arthrogryposis, Distal, Type 2B1	Long philtrum, Mandibular prognathia, Narrow mouth, High palate, Camptodactyly of finger, Downsla...	OMIM:601680
Ohdo Syndrome, X-Linked	Microtia, Microdontia, Long philtrum, Stenosis of the external auditory canal, Hearing impairment...	OMIM:300895
Familial Visceral Myopathy	Aganglionic megacolon, Hydroureter, Low-set, posteriorly rotated ears, Anteverted nares, Vesicour...	ORPHA:2604
Neuronal Intestinal Pseudoobstruction	Congenital diaphragmatic hernia, Natal tooth	ORPHA:99811
Vertebral Hypersegmentation And Orofacial Anomalies	Scapular winging, Unilateral cleft palate, Pectus excavatum, Supernumerary ribs, Unilateral cleft...	OMIM:619122
Czeizel-Losonci Syndrome	Hypoplastic helices, Low-set, posteriorly rotated ears, Congenital megaureter, Spina bifida occul...	ORPHA:2437
Familial Congenital Mirror Movements	Fused cervical vertebrae, Hypogonadotropic hypogonadism	ORPHA:238722
Parathyroid Carcinoma	Hypercalcemia	OMIM:608266
Prune Belly Syndrome	Aplasia of the abdominal wall musculature, Pectus excavatum, Anal atresia, Abnormal rib morpholog...	ORPHA:2970
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Low-set, posteriorly rotated ears, Pectoral muscle hypoplasia/aplasia, Hypoplasia of the frontal ...	ORPHA:306542
Wolf-Hirschhorn Syndrome	Malrotation of small bowel, Hip dislocation, Short philtrum, Cleft palate, Radioulnar synostosis,...	OMIM:194190
Barber-Say Syndrome	Microtia, first degree, Wide mouth, Anteverted nares, Stenosis of the external auditory canal, He...	OMIM:209885
Cornelia De Lange Syndrome 1	Congenital diaphragmatic hernia, Ectopic kidney, Highly arched eyebrow, Sensorineural hearing imp...	OMIM:122470
Tarp Syndrome	Meckel diverticulum, Microtia, Glossoptosis, Tongue nodules, Optic atrophy, Hypoplasia of the rad...	OMIM:311900
Chromosome 9P Deletion Syndrome	Retrognathia, Highly arched eyebrow, Heart murmur, Long philtrum, Narrow palate, Hypospadias, Ant...	OMIM:158170
Intellectual Developmental Disorder, X-Linked 110	Bradykinesia, Episodic vomiting	OMIM:301095
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Conductive hearing impairment	OMIM:601076
Pseudohypoparathyroidism Type 1B	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany	ORPHA:94089
Postencephalitic Parkinsonism	Bradykinesia, Bilateral ptosis, Babinski sign, Resting tremor, Tremor by anatomical site, Cogwhee...	ORPHA:97349
Acrocephalopolydactylous Dysplasia	Enlarged kidney, Hepatomegaly, Cystic renal dysplasia, Ascites, Hepatic fibrosis, Pancreatic fibr...	OMIM:200995
Hermansky-Pudlak Syndrome 10	Retrognathia, Low-set ears, Macrotia, Apnea, Splenomegaly, Smooth philtrum, Neutropenia	OMIM:617050
22Q11.2 Deletion Syndrome	Chronic otitis media, Gastrointestinal hemorrhage, Corneal neovascularization, Small earlobe, Hyp...	ORPHA:567
Short Stature, Microcephaly, And Endocrine Dysfunction	Unilateral renal agenesis, Ectopic kidney, Sensorineural hearing impairment, Dysdiadochokinesis, ...	OMIM:616541
Postaxial Acrofacial Dysostosis	Ectropion, Hypoplasia of the ulna, Abnormality of the kidney, Hypoplasia of the radius, Conical t...	OMIM:263750
Peripartum Cardiomyopathy	Left atrial enlargement, Sinus tachycardia, Hypertension, Left ventricular hypertrophy, Heart mur...	ORPHA:563
Chediak-Higashi Syndrome	Decreased nerve conduction velocity, Anemia, Hemophagocytosis, Lymphadenopathy, Periodontitis, Sp...	OMIM:214500
Meier-Gorlin Syndrome 1	Absent sternal ossification, Microtia, Microdontia, Death in infancy, Delayed skeletal maturation...	OMIM:224690
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Abnormality of visual evoked potentials, Abnormal auditory evoked potentials, Optic disc pallor	OMIM:617523
Congenital Myopathy 8	Cardiomegaly, Congestive heart failure	OMIM:618654
Xp21 Deletion Syndrome	Recurrent otitis media, Spasticity, Calf muscle hypertrophy, Everted lower lip vermilion, Primary...	ORPHA:261476
Familial Idiopathic Dilatation Of The Right Atrium	Paroxysmal atrial fibrillation, Hepatomegaly, Cardiomegaly, Reduced left ventricular ejection fra...	ORPHA:1677
Osteoglophonic Dysplasia	Midface retrusion, Eruption failure, Long philtrum, Craniosynostosis, Hypospadias, Anteverted nar...	OMIM:166250
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Facial palsy, Furrowed tongue	ORPHA:2743
Van Den Ende-Gupta Syndrome	Dislocated radial head, Small earlobe, Dental crowding, Everted lower lip vermilion, Craniosynost...	OMIM:600920
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Bradykinesia, Hemiballismus, Hypertonia, Urinary incontinence, Gastroparesis, Truncal ataxia, Spa...	OMIM:618877
Multicentric Osteolysis, Nodulosis, And Arthropathy	Kyphoscoliosis, Ankylosis of feet small joints, Wrist flexion contracture, Sclerotic cranial sutu...	OMIM:259600
Sponastrime Dysplasia	Kyphoscoliosis, Midface retrusion, Short dental root, Microdontia, Biconcave vertebral bodies, Ap...	ORPHA:93357
Central Hypoventilation Syndrome, Congenital, 1	Hypoventilation, Nocturnal hypoventilation, Aganglionic megacolon, Decreased heart rate variabili...	OMIM:209880
Cholestasis, Progressive Familial Intrahepatic, 1	Cholelithiasis, Diarrhea, Epistaxis, Splenomegaly, Fat malabsorption	OMIM:211600
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Narrow nasal base, Wide nose, Cleft ala nasi, Breast aplasia, Mandibular prognathia, Hypoplasia o...	ORPHA:3044
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Thin ribs, Narrow mouth, Flexion contracture	OMIM:614833
Lateral Meningocele Syndrome	High, narrow palate, Craniofacial hyperostosis, Meningocele, Sensorineural hearing impairment, De...	ORPHA:2789
Baker-Gordon Syndrome	Dystonia, Ataxia, Motor stereotypy, Self-injurious behavior, Choreoathetosis	OMIM:618218
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly...	OMIM:603552
Cowden Syndrome 6	Kyphosis, Thyroiditis, Scoliosis, High palate, Furrowed tongue, Narrow mouth, Hamartomatous polyp...	OMIM:615109
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Congestive heart failure, Splenomegaly, Tachycardia, Abnormal urinar...	ORPHA:90037
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments	Bradykinesia, Parkinsonism	ORPHA:412066
Myhre Syndrome	Abnormal metaphysis morphology, Thin vermilion border, Gingival cleft, Craniofacial hyperostosis,...	ORPHA:2588
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Inappropriate behavior, Urinary incontinence, Dystonia, Disinhibition, Motor stereotypy, Restless...	OMIM:600795
Hypermanganesemia With Dystonia 2	Bradykinesia, Babinski sign, Hypomimic face, Scissor gait, Spasticity, Tremor, Lower limb hyperto...	OMIM:617013
Atrial Septal Defect, Sinus Venosus Type	Congestive heart failure, Atrial flutter, Atrial fibrillation, Supraventricular arrhythmia, Supra...	ORPHA:99105
Joubert Syndrome 9	Encephalocele, Oculomotor apraxia, Apnea, Stage 5 chronic kidney disease, Episodic tachypnea	OMIM:612285
Cutis Laxa, Autosomal Recessive, Type Ic	Midface retrusion, Retrognathia, Morgagni diaphragmatic hernia, Death in infancy, Umbilical herni...	OMIM:613177
Intellectual Developmental Disorder, Autosomal Dominant 1	Retrognathia, Highly arched eyebrow, Microtia, Everted lower lip vermilion, Microdontia, Wide mou...	OMIM:156200
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypocalcemia, Hypomagnesemia, Anemia, Hypokalemia	OMIM:175500
Duane Retraction Syndrome	Ectopic kidney, Spina bifida occulta, Abnormal form of the vertebral bodies, Anteverted nares, Se...	ORPHA:233
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Clinodactyly of the 5th finger, Tapered toe, Rib fusion, Celiac disease, Tapered finger	ORPHA:544488
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Hyperactivity, Macrotia, Motor stereotypy, Attention deficit hyperactivity disorder, Aggressive b...	OMIM:620292
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient	Bradykinesia, Hypertonia, Parkinsonism, Limb hypertonia	OMIM:617384
Developmental And Epileptic Encephalopathy 107	Motor stereotypy	OMIM:620033
Cog1-Cdg	Osteopenia, Short long bone, Posterior rib gap, Flat acetabular roof, High palate, Narrow mouth, ...	ORPHA:263508
Alternating Hemiplegia Of Childhood	Oculomotor apraxia, Chorea, Cardiomyopathy, Abnormal autonomic nervous system physiology, Rigidit...	ORPHA:2131
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Short philtrum, Hypoplastic iliac wing, Thin ribs, Abnormality of the calcaneus, Death in infancy...	ORPHA:163966
Bainbridge-Ropers Syndrome	Contracture of the proximal interphalangeal joint of the 4th finger, Retrognathia, Highly arched ...	OMIM:615485
Phosphoribosylpyrophosphate Synthetase Superactivity	Short nose, Death in childhood, Hypospadias, Renal insufficiency, Sensorineural hearing impairmen...	OMIM:300661
Foxg1 Syndrome	Decreased body weight, Stereotypical hand wringing, Dystonia, Motor stereotypy, Choreoathetosis, ...	ORPHA:561854
Von Willebrand Disease, Type 1	Gastrointestinal hemorrhage, Aortic valve stenosis, Menorrhagia, Joint hemorrhage, Epistaxis, Bru...	OMIM:193400
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Osteopenia, Genu valgum, Cubitus valgus, Sensorineural hearing impairment, Hypoplasia of the maxi...	OMIM:608154
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t...	OMIM:615513
Juvenile Polyposis Syndrome	Gastrointestinal hemorrhage, Neoplasm of the pancreas, Hamartomatous stomach polyps, Rectal polyp...	ORPHA:2929
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Absent extraocular muscles, Abnormality of the vertebral column, Hydrocephalus, Sensorineural hea...	OMIM:109120
Larsen Syndrome	Midface retrusion, Spondylolysis, Multiple carpal ossification centers, Dislocated wrist, Joint h...	OMIM:150250
Hermansky-Pudlak Syndrome	Gastrointestinal hemorrhage, Abnormal bleeding, Abnormal dental enamel morphology, Cardiomyopathy...	ORPHA:79430
Lujo Hemorrhagic Fever	Myocarditis, Bradycardia, Fulminant hepatitis, Leukocytosis, Hypotension, Microscopic hematuria, ...	ORPHA:319213
Oculoskeletodental Syndrome	Hypocalcemia, Hypercalcemia	ORPHA:557003
Hyperphosphatasia-Intellectual Disability Syndrome	Oculomotor apraxia, Highly arched eyebrow, Upslanted palpebral fissure, Shortening of all distal ...	ORPHA:247262
Bleeding Disorder, Platelet-Type, 15	Platelet anisocytosis, Increased mean platelet volume, Thrombocytopenia, Epistaxis	OMIM:615193
Marden-Walker Syndrome	High, narrow palate, Hypospadias, Anteverted nares, Low-set ears, High palate, Narrow mouth, Camp...	OMIM:248700
Leukodystrophy, Hypomyelinating, 5	Decreased motor nerve conduction velocity, Delayed brainstem auditory evoked response conduction ...	OMIM:610532
Sudden Infant Death Syndrome	Apneic episodes in infancy	OMIM:272120
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Hypoplasia of the ulna, Short nose, Babinski sign, Hydroureter, Hypercalciuria, Anteverted nares,...	OMIM:615398
Autosomal Recessive Malignant Osteopetrosis	Anemia, Lymphadenopathy, Optic nerve compression, Delayed eruption of teeth, Hydrocephalus, Tremo...	ORPHA:667
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Lateral clavicle hook, Hypoplasia of the radius, Narrow chest, Short ribs, Hypoplastic ilia, Post...	OMIM:617895
Nasal Bones, Absence Of	Narrow naris, Short columella	OMIM:161480
Diaphanospondylodysostosis	Enlarged kidney, Abnormal liver lobulation, Nephroblastomatosis, Nephrogenic rest, Horseshoe kidn...	OMIM:608022
Robinow Syndrome, Autosomal Dominant 1	Midface retrusion, Retrognathia, Dislocated radial head, Dental crowding, Delayed skeletal matura...	OMIM:180700
Marshall-Smith Syndrome	Retrognathia, Short nose, Reduced bone mineral density, Anteverted nares, Gingival overgrowth, Sc...	ORPHA:561
Hereditary Late-Onset Parkinson Disease	Bradykinesia, Hypomimic face, Hyposmia, Resting tremor, Parkinsonism with favorable response to d...	ORPHA:411602
Oculoskeletodental Syndrome	Hypocalcemia, Hepatomegaly, Hypercalcemia, Splenomegaly	OMIM:618440
Icf Syndrome	Abnormality of neutrophils, Anemia, Low-set ears, Protruding tongue, Umbilical hernia, Communicat...	ORPHA:2268
Dyggve-Melchior-Clausen Disease	Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape...	OMIM:223800
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Narrow greater sciatic notch, Short ribs, Flat acetabular roof, Short long bone, Hypoplastic pelv...	OMIM:616300
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Flared metaphysis, Short ribs, Decreased skull ossification, Decreased fibular diamet...	OMIM:616897
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Gastroesophageal reflux, Bradycardia, Hypertension, High palate, Low-set ears, Retinal hemorrhage...	OMIM:614653
15Q Overgrowth Syndrome	Retrognathia, Mixed hearing impairment, Dental crowding, Abnormality of the incisor, Abnormal ren...	ORPHA:314585
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Chorea, Compulsive behaviors, Stereotypical hand wringing, Gait ataxia, Dystonia, Motor stereotyp...	OMIM:618917
Orofaciodigital Syndrome Type 3	Thoracic kyphosis, Postaxial hand polydactyly, Abnormality of the dentition, Pectus excavatum, Ir...	ORPHA:2752
Generalized Epilepsy With Febrile Seizures-Plus	Bradykinesia, Incoordination, Poor fine motor coordination, Tremor, Ataxia	ORPHA:36387
Hemophilia B	Hematemesis, Prolonged prothrombin time, Gastrointestinal hemorrhage, Hematuria, Melena, Petechia...	OMIM:306900
Nephronophthisis 13	Nephronophthisis, Glomerular sclerosis, Mild proteinuria, Glomerular subepithelial immune-complex...	OMIM:614377
Cardiomyopathy, Dilated, 1G	Congestive heart failure, Reduced left ventricular ejection fraction, Atrial fibrillation, Premat...	OMIM:604145
Seckel Syndrome 1	Hypospadias, 11 pairs of ribs, Pancytopenia, Dental crowding, Abnormal pinna morphology, Selectiv...	OMIM:210600
Infant Acute Respiratory Distress Syndrome	Tachycardia, Cardiac arrest, Hypotension, Bradycardia	ORPHA:70587
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Rickets, Enlargement of the costochondral junction, Fibular bowing, Enlargement of the wrists, Bu...	OMIM:600081
Kenny-Caffey Syndrome, Type 1	Hypocalcemia, Hypomagnesemia, Anemia	OMIM:244460
Sea-Blue Histiocyte Disease	Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly	OMIM:269600
Craniometadiaphyseal Dysplasia	Osteopenia, Genu valgum, Cubitus valgus, Flared metaphysis, Dental crowding, High palate, Microdo...	OMIM:269300
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Short nose, Hemiballismus, Hyperkinetic movements, Athetoid cerebral palsy, Gastroesophageal refl...	ORPHA:522077
Oxoglutaric Aciduria	Hypertonia, Abnormal salivary gland morphology, Hydrocephalus, Ataxia, Skeletal muscle atrophy, A...	ORPHA:31
Cerebrocostomandibular Syndrome	Anomalous rib insertion to vertebrae, Glossoptosis, Short humerus, Thoracic hypoplasia, Long phil...	OMIM:117650
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Short nose, Short palpebral fissure, Hypospadias, Telecanthus, Respiratory distress, Anteverted n...	OMIM:217980
Malan Syndrome	Midface retrusion, Retrognathia, Advanced eruption of teeth, Short nose, Mandibular prognathia, G...	OMIM:614753
Lipodystrophy, Congenital Generalized, Type 4	Hepatomegaly, Prolonged QT interval, Bradycardia, Atrial fibrillation, Splenomegaly, Tachycardia,...	OMIM:613327
Congenital Heart Defects And Skeletal Malformations Syndrome	Congenital diaphragmatic hernia, Long nose, Short nose, Thin vermilion border, Hypospadias, Denta...	OMIM:617602
Potocki-Lupski Syndrome	Oral-pharyngeal dysphagia, Hyperactivity, Abnormal renal morphology, Hearing impairment, Failure ...	OMIM:610883
Cholestasis, Progressive Familial Intrahepatic, 12	Jaundice, Hepatomegaly, Cholestasis, Proteinuria, Splenomegaly	OMIM:620010
Pseudohypoparathyroidism, Type Ic	Hypocalcemia, Hyperphosphatemia, Hypocalcemic tetany	OMIM:612462
Immunodeficiency 13	Recurrent otitis media, B lymphocytopenia, Lymphopenia, Nasal polyposis, T lymphocytopenia, Recur...	OMIM:615518
Von Willebrand Disease	Gastrointestinal hemorrhage, Muscle hemorrhage, Petechiae, Menorrhagia, Joint hemorrhage, Epistax...	ORPHA:903
Trisomy 10P	Retrognathia, Multiple renal cysts, Dysphagia, Abnormality of the ear, Abnormality of the kidney,...	ORPHA:171929
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency	Prolonged prothrombin time, Abnormal bleeding, Epistaxis	OMIM:610842
Robinow Syndrome, Autosomal Dominant 3	Midface retrusion, Kyphosis, Agenesis of permanent teeth, Long philtrum, Sacral dimple, Triangula...	OMIM:616894
X-Linked Dystonia-Parkinsonism	Bradykinesia, Resting tremor, Chorea, Progressive extrapyramidal muscular rigidity, Parkinsonism ...	ORPHA:53351
Fanconi Anemia, Complementation Group F	Pelvic kidney, Microtia, Vesicoureteral reflux, Microphallus, Conductive hearing impairment, Fail...	OMIM:603467
Mucopolysaccharidosis Type 2, Severe Form	Sensorineural hearing impairment, Chronic diarrhea, Hypertension, Cardiomyopathy, Temporomandibul...	ORPHA:217085
Lymphoid Interstitial Pneumonia	Enlarged kidney, Hepatomegaly, Mediastinal lymphadenopathy, Raynaud phenomenon, Pulmonary venous ...	ORPHA:79128
Myhre Syndrome	Midface retrusion, Microtia, Joint stiffness, Generalized muscle hypertrophy, Short philtrum, Enl...	OMIM:139210
D-2-Hydroxyglutaric Aciduria 1	Glutaric aciduria, Aortic regurgitation, Episodic vomiting, Cardiomyopathy, Micrognathia, Apnea, ...	OMIM:600721
Distal Renal Tubular Acidosis	Polydipsia, Low-molecular-weight proteinuria, Hypocitraturia, Decreased glomerular filtration rat...	ORPHA:18
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Asymmetric septal hypertrophy, Splenomegaly, Cardiomegaly, Heparan sulfate excretio...	OMIM:252920
Idiopathic Aplastic Anemia	Anemia, Pancytopenia, Gingival bleeding, Reticulocytopenia, Retinal hemorrhage, Bone marrow hypoc...	ORPHA:88
Osteopetrosis, Autosomal Recessive 5	Optic atrophy, Hepatomegaly, Anemia, Hypochromic microcytic anemia, Pancytopenia, Hypocalcemia, H...	OMIM:259720
Developmental Delay With Or Without Dysmorphic Facies And Autism	Congenital diaphragmatic hernia, Highly arched eyebrow, Upslanted palpebral fissure, Wide mouth, ...	OMIM:618454
Tetanus	Bradycardia, Hypertension, Elevated urinary epinephrine level, Elevated urinary norepinephrine le...	ORPHA:3299
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	3-Methylglutaconic aciduria, Hypertonia, Retrognathia, Death in childhood, Camptodactyly, Renal h...	OMIM:604273
Fraser Syndrome 3	Stillbirth, Wide nose, Hypoplasia of penis, Hydrocephalus, Bilateral renal agenesis, Low-set ears...	OMIM:617667
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Muscular dystrophy, Exercise-induced myoglobinuria, Calf muscle hypertrophy, Hyperlordosis, Scoli...	OMIM:607155
Lacrimoauriculodentodigital Syndrome 1	Mixed hearing impairment, Hypoplasia of the lacrimal punctum, Microtia, Microdontia, Absent radiu...	OMIM:149730
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Abnormal bone ossification, Reduced bone mineral density, Biconvex vertebral bodies, Small earlob...	ORPHA:93315
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Anemia, Pancreatitis, Cardiomyopathy, Thrombocytopenia, Splenomegaly, Renal insuffi...	ORPHA:79312
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Aplasia/Hypoplasia of the earlobes, Stenosis of the external auditory canal, Microtia, Abnormal a...	ORPHA:2878
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Gastrointestinal hemorrhage, Hepatomegaly, Iron deficiency anemia, L...	OMIM:603909
Chromosome 2Q37 Deletion Syndrome	Hyperactivity, Sensorineural hearing impairment, Stereotypical hand wringing, Skin-picking, Obesi...	OMIM:600430
Neurodegeneration With Brain Iron Accumulation 3	Bradykinesia, Babinski sign, Hypomimic face, Chorea, Spasticity, Tremor, Blepharospasm, Rigidity,...	OMIM:606159
Hyperparathyroidism 4	Hypercalcemia	OMIM:617343
Mitochondrial Complex I Deficiency, Nuclear Type 33	Optic atrophy, Hypospadias, Spasticity, Apnea, Dysphagia, Neutropenia	OMIM:618253
Osteogenesis Imperfecta, Type Ii	Absent ossification of calvaria, Bell-shaped thorax, Crumpled long bones, Recurrent fractures, Th...	OMIM:166210
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia	OMIM:618852
Developmental And Epileptic Encephalopathy 90	Babinski sign, Limb hypertonia, Hypothyroidism, Constipation, Fetal pyelectasis, Ankle clonus, Ap...	OMIM:301058
Cheilitis Glandularis	Abnormal salivary gland morphology, Thick lower lip vermilion	ORPHA:1221
Congenital Pulmonary Lymphangiectasia	Congestive heart failure, Hepatomegaly, Chylopericardium, Ascites, Pulmonary arterial hypertensio...	ORPHA:2414
Hypoglossia With Situs Inversus	Narrow mouth, High palate, Low-set ears, Asplenia, Micrognathia, Microglossia, Hypodontia, Polysp...	OMIM:612776
Congenital Bile Acid Synthesis Defect Type 1	Cirrhosis, Jaundice, Hepatomegaly, Gastrointestinal hemorrhage, Biliary tract abnormality, Spleno...	ORPHA:79301
Meier-Gorlin Syndrome 4	Breast hypoplasia, Thick lower lip vermilion, Genu recurvatum, Microtia, Low-set ears, Narrow mou...	OMIM:613804
Mucopolysaccharidosis Type 2, Attenuated Form	Sensorineural hearing impairment, Chronic diarrhea, Hypertension, Cardiomyopathy, Temporomandibul...	ORPHA:217093
Distal Duplication 5Q	Hypoplasia of the ulna, Thin vermilion border, Short nose, Hypoplasia of the radius, Hypospadias,...	ORPHA:96097
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders	Attention deficit hyperactivity disorder, Overweight, Motor stereotypy	OMIM:620065
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
4Q21 Microdeletion Syndrome	Tremor, Low-set ears, Hearing impairment, Motor stereotypy, Self-injurious behavior	ORPHA:238750
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Spastic paraplegia, Epistaxis, Splenomegaly, Ataxia, Neutropenia, ...	ORPHA:167
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal ascites, Hepatomegaly, Splenomegaly	OMIM:619462
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Nasal polyposis, Hearing impairment, Sinusitis, Otitis media, Absent inner ...	OMIM:606763
Goldberg-Shprintzen Syndrome	Aganglionic megacolon, Limb hypertonia, Short philtrum, Oligodontia, Vesicoureteral reflux, Low-s...	OMIM:609460
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Optic atrophy, Gait ataxia, Dystonia, Motor stereotypy, Prominent antihelix	OMIM:617807
Martin-Probst Syndrome	Narrow palpebral fissure, Thick lower lip vermilion, Telecanthus, Renal insufficiency, Pancytopen...	OMIM:300519
Salivary Gland Adenoma, Pleomorphic	Salivary gland neoplasm	OMIM:181030
Rabin-Pappas Syndrome	Hypoventilation, Short palpebral fissure, Retrognathia, Retinal telangiectasia, Low hanging colum...	OMIM:620155
Cardiomyopathy, Familial Hypertrophic, 17	Palpitations, Angina pectoris, Atrial fibrillation, Hypertrophic cardiomyopathy, Myocardial fibro...	OMIM:613873
Chromosome 8Q21.11 Deletion Syndrome	Short palpebral fissure, Short philtrum, Sensorineural hearing impairment, Exaggerated cupid's bo...	OMIM:614230
Hurler-Scheie Syndrome	Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Cardiomyopathy, Spleno...	ORPHA:93476
Bleeding Disorder, Platelet-Type, 17	Abnormal bleeding, Gastrointestinal hemorrhage, Petechiae, Macrothrombocytopenia, Absence of alph...	OMIM:187900
Hypotonia-Cystinuria Syndrome	Hypocalcemia	OMIM:606407
Benign Familial Infantile Epilepsy	Limb myoclonus, Hypertonia, Apnea	ORPHA:306
Bleeding Disorder, Platelet-Type, 12	Menorrhagia, Joint hemorrhage, Epistaxis, Intestinal bleeding, Bruising susceptibility	OMIM:605735
Sporadic Pheochromocytoma/Secreting Paraganglioma	Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Cranial nerve compression, Paraganglioma...	ORPHA:276621
Diffuse Neonatal Hemangiomatosis	Thrombocytopenia, Hepatomegaly, Hypercalcemia, Anemia	ORPHA:2123
Corticobasal Syndrome	Bradykinesia, Limb apraxia, Oromotor apraxia, Progressive extrapyramidal muscular rigidity, Tremo...	ORPHA:454887
Phaver Syndrome	Aplasia/Hypoplasia of the earlobes, Low-set ears, Conductive hearing impairment, Posteriorly rota...	ORPHA:2876
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Hyperextensibility of the finger joints, Glossoptosis, Micrognathia, Cleft palate, Prominent nasa...	OMIM:618356
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Hypocalcemia, Hypoproteinemia, Pancreatic lymphangiectasis, Splenomegaly, Pulmonary...	OMIM:235255
Colchicine Poisoning	Hypokalemia, Hypocalcemia, Leukocytosis, Hyponatremia, Hypomagnesemia, Hypophosphatemia, Abnormal...	ORPHA:31824
Meier-Gorlin Syndrome 5	Small earlobe, Microtia, Elbow dislocation, Low-set ears, Prominent metopic ridge, Hypoplasia of ...	OMIM:613805
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Atrioventricular block, Bradycardia	OMIM:614407
Bardet-Biedl Syndrome 3	Renal hypoplasia, Obesity	OMIM:600151
8P Inverted Duplication/Deletion Syndrome	Retrognathia, Everted lower lip vermilion, Wide mouth, Long philtrum, Hypertonia, Anteverted nare...	ORPHA:96092
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:610293
Monosomy 9P	Congenital diaphragmatic hernia, Highly arched eyebrow, Microtia, Long philtrum, Hypertonia, Hypo...	ORPHA:261112
Tetrasomy 5P	Congestive heart failure, Short nose, Respiratory distress, Short hallux, Anteverted nares, Aplas...	ORPHA:3309
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Limb hypertonia, Gait ataxia, Hearing impairment, Protruding tongue, Apnea, Ataxia, Opisthotonus,...	OMIM:619580
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Optic atrophy, 3-Methylglutaconic aciduria, Babinski sign, Elevated urine acetoacetic acid level,...	OMIM:620089
Ferguson-Bonni Neurodevelopmental Syndrome	Congenital diaphragmatic hernia, High palate, Pectus excavatum	OMIM:619699
Gorlin-Chaudhry-Moss Syndrome	Oligodontia, Abnormality of the dentition, Hypoplasia of the maxilla, Conductive hearing impairme...	ORPHA:2095
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Short nose, Hypertonia, Sensorineural hearing impairment, Optic nerve hypoplasia, Spasticity, Hig...	OMIM:300749
Sweeney-Cox Syndrome	Upper eyelid coloboma, Microtia, Short distal phalanx of finger, Short philtrum, Choanal atresia,...	OMIM:617746
Mucopolysaccharidosis Type 3	Chronic otitis media, Intermittent diarrhea, Mixed hearing impairment, Sensorineural hearing impa...	ORPHA:581
Mosaic Variegated Aneuploidy Syndrome 1	Tetraplegia, Pulmonic stenosis, Long philtrum, Hypospadias, Triangular mouth, Hydrocephalus, Ante...	OMIM:257300
Geroderma Osteodysplasticum	Kyphoscoliosis, Osteopenia, Beaking of vertebral bodies, Vertebral compression fracture, Periodon...	OMIM:231070
Atypical Juvenile Parkinsonism	Bradykinesia, Hypomimic face, Resting tremor, Gait ataxia, Involuntary movements, Slowed slurred ...	ORPHA:391411
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Bilateral choanal atresia, Widely spaced teeth, Hypospadias, Conical tooth, Selective tooth agene...	OMIM:106260
Osteogenesis Imperfecta, Type Iv	Hearing impairment, Otosclerosis	OMIM:166220
Congenital Fibrinogen Deficiency	Hemorrhagic ovarian cyst, Internal hemorrhage, Decreased testicular size, Splenic rupture, Right ...	ORPHA:335
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Petechiae, Gingival bleeding, Increased mean platelet volume, Menorrhagia, Ecchymosis, Epistaxis,...	OMIM:153670
8P23.1 Microdeletion Syndrome	Congenital diaphragmatic hernia, Short nose, Thin vermilion border, Hypospadias, Abnormal pinna m...	ORPHA:251071
Baller-Gerold Syndrome	Limited elbow movement, Carpal bone aplasia, Oligodactyly, Short humerus, Absent thumb, Bifid uvu...	OMIM:218600
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Short nose, Abnormality of canine, Small earlobe, Oligodontia, Exaggerated cupid's bow, Long uppe...	ORPHA:364577
Butyrylcholinesterase Deficiency	Apnea	OMIM:617936
Mandibuloacral Dysplasia	Abnormal tongue morphology, Short clavicles, Delayed cranial suture closure, Osteolytic defects o...	ORPHA:2457
Stromme Syndrome	Short columella, Stillbirth, Accessory spleen, Hydrocephalus, Optic nerve hypoplasia, Low-set ear...	OMIM:243605
Seizures, Benign Familial Infantile, 3	Apnea	OMIM:607745
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant...	OMIM:601859
Inverted Duplicated Chromosome 15 Syndrome	Low-set, posteriorly rotated ears, Unilateral renal agenesis, Hyperactivity, Motor stereotypy, Se...	ORPHA:3306
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Generalized amyotrophy, 2-ethylhydracylic aciduria, Apneic episodes in infancy, Lethargy	OMIM:610006
Tenosynovial Giant Cell Tumor	Conductive hearing impairment, Abnormal tympanic membrane morphology, Abnormal auditory canal mor...	ORPHA:66627
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Cardiac arrest, Premature ventricul...	OMIM:609040
Acrocallosal Syndrome	Everted upper lip vermilion, Abnormal pinna morphology, Abnormal oral frenulum morphology, Bifid ...	OMIM:200990
2Q37 Microdeletion Syndrome	Congenital diaphragmatic hernia, Thin vermilion border, Midface retrusion, Multicystic kidney dys...	ORPHA:1001
Poikiloderma With Neutropenia	Short nose, Retrognathia, Recurrent otitis media, Neutropenia, Nasolacrimal duct obstruction, Und...	OMIM:604173
Sanjad-Sakati Syndrome	Intestinal obstruction, Thin vermilion border, Hypoparathyroidism, Low-set, posteriorly rotated e...	ORPHA:2323
Hypercalcemia, Infantile, 2	Hypercalcemia, Hypophosphatemia	OMIM:616963
Seizures, Benign Familial Infantile, 1	Apnea	OMIM:601764
Distal Duplication 17Q	Rhizomelia, Low-set, posteriorly rotated ears, Short philtrum, Episodic vomiting, Blepharophimosi...	ORPHA:3379
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Sandal gap, Abnormal dental enamel morphology, High palate, Abnormal rib morphology, Sprengel ano...	ORPHA:2180
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Stillbirth, Decreased cranial base ossification, Narrow chest, Metaphyseal cupping, Hypoplastic p...	OMIM:151210
Robinow Syndrome, Autosomal Recessive 2	Short nose, Triangular mouth, Cleft soft palate, Anteverted nares, Gingival overgrowth, Low-set e...	OMIM:618529
Multiple Synostoses Syndrome 2	Finger symphalangism, Tarsal synostosis, Wide nose, Proximal symphalangism, Humeroradial synostos...	OMIM:610017
Meacham Syndrome	Hydrometrocolpos, Situs inversus totalis, Transposition of the great arteries, Abnormal fallopian...	ORPHA:3097
Mayer-Rokitansky-Kuster-Hauser Syndrome	Abnormal female external genitalia morphology, Aplasia of the upper vagina, Hypoplasia of the ute...	OMIM:277000
Young-Onset Parkinson Disease	Bradykinesia, Gastroparesis, Hyposmia, Diarrhea, Spasticity, Tremor, Abnormal autonomic nervous s...	ORPHA:2828
Beta-Thalassemia	Hepatomegaly, Anemia, Cholelithiasis, Hypertrophic cardiomyopathy, Thrombocytopenia, Splenomegaly...	ORPHA:848
Dystonia 16	Bradykinesia, Retrocollis, Involuntary movements, Abnormal pyramidal sign, Dysphagia, Parkinsonis...	OMIM:612067
Fryns Syndrome	Congenital diaphragmatic hernia, Intestinal malrotation, Wide mouth, Long philtrum, Aganglionic m...	ORPHA:2059
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Thin vermilion border, Decreased response to growth hormone stimulation test, Decreased circulati...	OMIM:241410
Meier-Gorlin Syndrome 3	Breast hypoplasia, Hypospadias, Patellar hypoplasia, Absent sternal ossification, Tracheomalacia,...	OMIM:613803
Autosomal Dominant Robinow Syndrome	Midface retrusion, Retrognathia, Hypoplasia of penis, Abnormal form of the vertebral bodies, Umbi...	ORPHA:3107
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Hypercalcemia, Anemia	ORPHA:2668
Poland Syndrome	Congenital diaphragmatic hernia, Aplasia of the pectoralis major muscle, Reduced bone mineral den...	ORPHA:2911
Carnitine Deficiency, Systemic Primary	Congestive heart failure, Hepatomegaly, Dicarboxylic aciduria, Microvesicular hepatic steatosis, ...	OMIM:212140
Familial Isolated Hypoparathyroidism	Hypocalcemia	ORPHA:2238
Ear-Patella-Short Stature Syndrome	Retrognathia, Hypoplasia of penis, Delayed skeletal maturation, Bifid uvula, Joint hypermobility,...	ORPHA:2554
Hermansky-Pudlak Syndrome 7	Post-partum hemorrhage, Menorrhagia, Epistaxis, Persistent bleeding after trauma, Bruising suscep...	OMIM:614076
Pulmonary Arteriovenous Malformation	Ischemic stroke, Abnormal bleeding, Myocardial infarction, Iron deficiency anemia, Dyspnea, Trans...	ORPHA:2038
Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:97330
Xylt1-Cdg	Joint dislocation, Flared metaphysis, Short clavicles, Short long bone, Broad thumb, Cleft palate...	ORPHA:370930
Pituicytoma	Central diabetes insipidus, Decreased response to growth hormone stimulation test, Pituitary hypo...	ORPHA:251623
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Petechiae, Anemia of inadequate production, Poikilocytosis, Epistaxis, Persistent bleeding after ...	OMIM:300367
Cowden Syndrome 1	Kyphosis, Thyroiditis, Scoliosis, High palate, Furrowed tongue, Narrow mouth, Hamartomatous polyp...	OMIM:158350
Renal Hypoplasia, Bilateral	Decreased glomerular filtration rate, Vesicoureteral reflux, Beta 2-microglobulinuria, Renal cyst...	ORPHA:97362
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Thin vermilion border, Fibular hypoplasia, Narrow mouth, Supernumerary ri...	OMIM:612447
Classic Progressive Supranuclear Palsy Syndrome	Bradykinesia, Progressive extrapyramidal muscular rigidity, Parkinsonism with favorable response ...	ORPHA:240071
Linear Skin Defects With Multiple Congenital Anomalies 2	Congenital diaphragmatic hernia, Short nose, Posteriorly rotated ears, Long philtrum	OMIM:300887
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Fused cervical vertebrae, Stomatitis, Neutrophilia, Splenomegaly, Osteolysis, Joint s...	OMIM:612852
Autosomal Dominant Hypocalcemia	Optic atrophy, Fatigable weakness, Hypocalcemia, Hypomagnesemia, Hyperphosphatemia	ORPHA:428
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Retrognathia, Dental crowding, Underdeveloped tragus, Pulmonic stenosis, Leukopenia, Lymphopenia,...	OMIM:620654
Menke-Hennekam Syndrome 2	Duodenal ulcer, Short palpebral fissure, Narrow nasal bridge, Blepharophimosis, Absent earlobe, H...	OMIM:618333
Joubert Syndrome 33	Apnea, Ataxia, Splenomegaly, Oculomotor apraxia	OMIM:617767
Immunodeficiency 48	Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Splenomegaly, Abnormal ...	OMIM:269840
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Prematur...	OMIM:610193
12Q14 Microdeletion Syndrome	Ectopic kidney, Tremor, Failure to thrive, Renal hypoplasia, Horseshoe kidney	ORPHA:94063
Cornelia De Lange Syndrome 6	Clinodactyly of the 5th finger, Pectus carinatum, Arachnodactyly, Short palm, Macrodontia of perm...	OMIM:620568
Lethal Congenital Contracture Syndrome 9	Thoracic kyphoscoliosis, Wrist flexion contracture, Centrally nucleated skeletal muscle fibers, M...	OMIM:616503
Au-Kline Syndrome	Retrognathia, Sensorineural hearing impairment, Microtia, Bifid nasal tip, Lipomyelomeningocele, ...	OMIM:616580
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, High, narrow palate, Abnormal metacarpal morpho...	ORPHA:3258
Hyperparathyroidism, Transient Neonatal	Enlarged kidney, Ovarian cyst, Unilateral renal agenesis, Splenic cyst	OMIM:618188
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Joint hypermobility, Recurrent fractures, Abnormal rib morphology, Decreased calvarial ossification	ORPHA:2772
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Presyncope, Left bundle branch block, Palpitations, Premature ventricular contraction, Ventricula...	OMIM:618920
Spondylospinal Thoracic Dysostosis	Hypoplasia of the maxilla, Micrognathia, Arthrogryposis multiplex congenita, Multiple pterygia	OMIM:601809
Brachycephaly, Trichomegaly, And Developmental Delay	Conductive hearing impairment, Low-set ears, Overfolded helix	OMIM:617412
Refsum Disease, Classic	Congestive heart failure, Cardiomyopathy, Abnormal renal physiology, Arrhythmia, Cardiomegaly	OMIM:266500
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Delayed puberty, Oculomotor apraxia, Sensorineural hearing impairment, Spontaneous, recurrent epi...	ORPHA:2072
Pseudoachondroplasia	Short long bone, Short metacarpal, Metaphyseal irregularity, Short distal phalanx of finger, Join...	OMIM:177170
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Hyperactivity, Low-set ears, Compulsive behaviors, Obesity, Posteriorly rotated ears, Ataxia, Mot...	OMIM:618430
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Carpal bone hypoplasia, Genu valgum, Metaphyseal cupping, Narrow iliac wing, Short long bone, Sho...	OMIM:250420
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia	ORPHA:231401
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Congenital diaphragmatic hernia, Midface retrusion, Multiple joint dislocation, Dislocated radial...	OMIM:245600
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Hypoplasia of the maxilla, Mandibular prognathia, Crowded maxillary incisors	ORPHA:397973
Cortical Dysplasia, Complex, With Other Brain Malformations 2	Self-injurious behavior, Motor stereotypy	OMIM:615282
Developmental And Epileptic Encephalopathy 101	Third degree atrioventricular block, Bradycardia	OMIM:619814
Charcot-Marie-Tooth Disease Type 1E	Distal lower limb muscle weakness, Peroneal muscle weakness, Hammertoe, Split hand, Hand muscle w...	ORPHA:90658
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Periorbital dermoid cyst, Mixed hearing impairment, Low-set ears, Scapular winging, Renal cyst, C...	OMIM:615560
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Anemia, Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly	OMIM:607616
Rabson-Mendenhall Syndrome	Dental crowding, Delayed skeletal maturation, Nephrocalcinosis, Increased pineal volume, Increase...	ORPHA:769
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Iron deficiency anemia, Hepatosplenomegaly, Heart murmur, Cardiomegaly, Diffuse alv...	ORPHA:99931
Rhabdoid Tumor	Anemia, Lymphadenopathy, Thrombocytopenia, Hypercalcemia, Neoplasm of the liver	ORPHA:69077
Ellis-Van Creveld Syndrome	Genu valgum, Narrow chest, Delayed eruption of teeth, Hypoplastic iliac wing, Abnormal alveolar r...	OMIM:225500
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Mediastinal lymphadenopathy, Lymphadenopathy, Decreased proportion of CD4-positive helper T cells...	OMIM:300853
Histiocytoid Cardiomyopathy	Congestive heart failure, Atrial flutter, Hepatomegaly, Wolff-Parkinson-White syndrome, Cardiomeg...	ORPHA:137675
Seckel Syndrome 2	Ectopic kidney, Hypospadias, Microdontia, Micrognathia, Microglossia, Prominent nose	OMIM:606744
Peutz-Jeghers Syndrome	Esophageal neoplasm, Intestinal obstruction, Rectal prolapse, Gastrointestinal hemorrhage, Abnorm...	ORPHA:2869
Desmosterolosis	Retrognathia, Renal hypoplasia/aplasia, Abnormal earlobe morphology, Intestinal malrotation, Rigi...	ORPHA:35107
Campomelia, Cumming Type	Abnormal intestine morphology, Bowing of the long bones, Abnormal rib morphology, Abnormally ossi...	ORPHA:1318
Diaphanospondylodysostosis	Absent or minimally ossified vertebral bodies, Myelomeningocele, Cleft palate, Multiple renal cys...	ORPHA:66637
Micro Syndrome	Delayed puberty, Short nose, Optic atrophy, Low-set, posteriorly rotated ears, Short philtrum, Hy...	ORPHA:2510
Hypermobile Ehlers-Danlos Syndrome	Vertigo, Dental crowding, Abnormal autonomic nervous system physiology, Microdontia, Epistaxis, A...	ORPHA:285
Atelis Syndrome 2	Pulmonic stenosis, Hyperinsulinemia, Dyspnea, Supravalvar pulmonary stenosis, Protruding ear, Bul...	OMIM:620185
Pallister-Hall Syndrome	Ectopic kidney, Microtia, Hypothalamic hamartoma, Thyroid hypoplasia, Central adrenal insufficien...	ORPHA:672
Renal Caliceal Diverticuli-Deafness Syndrome	Abnormality of the kidney, Hydroureter, Sensorineural hearing impairment, Abnormality of the uppe...	ORPHA:2838
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Short tubular bones of the hand, Osteopenia, Abnormal diaphysis morphology, Increased bone minera...	ORPHA:85184
Mitochondrial Complex I Deficiency, Nuclear Type 37	Hypospadias, Pulmonary arterial hypertension, Bradycardia	OMIM:619272
Red Cell Phospholipid Defect With Hemolysis	Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Craniometaphyseal Dysplasia, Autosomal Recessive	Optic atrophy, Mixed hearing impairment, Facial palsy	OMIM:218400
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Abnormal fibula morphology, Tibial bowing, Bowing of the long bones, Abnormal rib morphology, Abn...	ORPHA:3035
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Hepatomegaly, Hepatic steatosis, Splenomegaly	OMIM:614480
Nasopalpebral Lipoma-Coloboma Syndrome	Wide nose, Low-set ears, Depressed nasal tip, Hypoplasia of the maxilla, Conjunctival hyperemia, ...	ORPHA:2399
Parkinsonian-Pyramidal Syndrome	Bradykinesia, Babinski sign, Hypomimic face, Neurogenic bladder, Spasticity, Abnormal autonomic n...	ORPHA:171695
Marbach-Schaaf Neurodevelopmental Syndrome	Recurrent otitis media, Hemidystonia, Torticollis, Enuresis nocturna, Tremor, Recurrent hand flap...	OMIM:619680
Fanconi Anemia, Complementation Group P	Short palpebral fissure, Hypoplasia of the radius, Anemia, Pancytopenia, Blepharophimosis, Pelvic...	OMIM:613951
Kikuchi-Fujimoto Disease	Neutropenia, Anemia, Lymphadenopathy, Abnormal lymph node morphology, Lymphocytosis, Oral ulcer, ...	ORPHA:50918
Telangiectasia, Hereditary Hemorrhagic, Type 5	Spontaneous, recurrent epistaxis, Portal hypertension, Telangiectasia	OMIM:615506
Congenital Disorder Of Glycosylation, Type Iia	Retrognathia, Sensorineural hearing impairment, Everted lower lip vermilion, Wide mouth, Long phi...	OMIM:212066
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Hypoplasia of the ulna, Multiple joint dislocation, Carpal bone hypoplasia, Dislocated radial hea...	OMIM:618395
Kinsship Syndrome	Low-set ears, Failure to thrive, Renal hypoplasia, Motor stereotypy, Bruxism, Horseshoe kidney	OMIM:619297
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Hypospadias, Chorea, Low-set ears, Decreased body weight, Macrotia, Ataxia, Dysphagia, Motor ster...	OMIM:300260
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Bilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Hyperechog...	OMIM:617914
Hermansky-Pudlak Syndrome 11	Gingival bleeding, Menorrhagia, Epistaxis, Bruising susceptibility, Reduced platelet dense granules	OMIM:619172
Hypocalcemic Vitamin D-Dependent Rickets	Hypocalcemic seizures, Hepatomegaly, Hypocalcemia, Leukocytosis, Splenomegaly, Hypophosphatemia, ...	ORPHA:289157
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Dicarboxylic aciduria, Exercise-induced myoglobinuria, Reduced left ventricular eje...	OMIM:201475
Fetal Akinesia Deformation Sequence	Multiple joint contractures, Pterygium, Intestinal hypoplasia, Arthrogryposis multiplex congenita...	ORPHA:994
Basel-Vanagaite-Smirin-Yosef Syndrome	Retrognathia, Hypospadias, Short philtrum, Anteverted nares, Scoliosis, Low-set ears, Everted low...	OMIM:616449
Wolfram Syndrome 1	Optic atrophy, Hydroureter, Diabetes insipidus, Sensorineural hearing impairment, Neurogenic blad...	OMIM:222300
Congenital Disorder Of Glycosylation, Type Iie	Retrognathia, Short nose, Wide nose, Sensorineural hearing impairment, Neurogenic bladder, Low-se...	OMIM:608779
Gray Platelet Syndrome	Abnormal bleeding, Abnormal number of alpha granules, Menorrhagia, Epistaxis, Splenomegaly, Throm...	OMIM:139090
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Splenomegal...	OMIM:619375
Arthrogryposis Multiplex Congenita 5	Death in infancy, Long philtrum, Acanthocytosis, Normocytic anemia, Hypertonia, Anteverted nares,...	OMIM:618947
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Retrognathia, Sensorineural hearing impairment, Microdontia, Wide mouth, Hypertonia, Thin lower l...	OMIM:619194
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Hypocalcemia, Hypoproteinemia, Pancreatic lymphangiectasis, Hepatosplenomegaly, Spl...	ORPHA:1655
Cousin Syndrome	Dislocated radial head, Hypoplastic iliac wing, Wrist flexion contracture, Hypoplastic ischia, Ab...	OMIM:260660
Schnitzler Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Vasculitis, Leukocytosis, Splenomegaly	ORPHA:37748
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Intestinal pseudo-obstruction, Sensorineural hearing impairment, Abnormality of primary teeth, To...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Intestinal pseudo-obstruction, Sensorineural hearing impairment, Abnormality of primary teeth, To...	ORPHA:352665
Generalized Pustular Psoriasis	Elevated circulating C-reactive protein concentration, Hypocalcemia, Leukocytosis, Hyponatremia, ...	ORPHA:247353
White-Sutton Syndrome	Congenital diaphragmatic hernia, Sensorineural hearing impairment, Bifid uvula, Joint hypermobili...	OMIM:616364
Myasthenic Syndrome, Congenital, 20, Presynaptic	Hypoventilation, Facial palsy, Ptosis, Apnea, Dysphagia, Skeletal muscle atrophy, Arthrogryposis ...	OMIM:617143
Craniometaphyseal Dysplasia, Autosomal Dominant	Mixed hearing impairment, Facial palsy	OMIM:123000
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Flexion contracture of toe, Microtia, Wide mouth, Dysphagia, Prominent tragus, Proximal muscle we...	ORPHA:280633
Ciliary Dyskinesia, Primary, 53	Abdominal situs inversus, Situs inversus totalis, Perimembranous ventricular septal defect, Paten...	OMIM:620642
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:617068
Peroxisome Biogenesis Disorder 1A (Zellweger)	Sensorineural hearing impairment, Delayed skeletal maturation, Renal cortical microcysts, Hypospa...	OMIM:214100
Chromosome 17Q12 Deletion Syndrome	Retrognathia, Highly arched eyebrow, Ovarian cyst, Urethral stenosis, Stage 5 chronic kidney dise...	OMIM:614527
Quebec Platelet Disorder	Menorrhagia, Joint hemorrhage, Thrombocytopenia, Epistaxis, Bruising susceptibility	OMIM:601709
Trichorhinophalangeal Syndrome Type 1	Supernumerary tooth, Long philtrum, Short metatarsal, Long upper lip, High palate, Abnormality of...	ORPHA:77258
Lenz-Majewski Hyperostotic Dwarfism	Sensorineural hearing impairment, Delayed skeletal maturation, Joint hypermobility, Hypospadias, ...	OMIM:151050
Rhyns Syndrome	Sensorineural hearing impairment, Conductive hearing impairment	OMIM:602152
Chromosome 13Q33-Q34 Deletion Syndrome	Anencephaly, Pulmonic stenosis, Left ventricular hypertrophy, Penoscrotal transposition, Advanced...	OMIM:619148
Nail-Patella Syndrome	Pectus excavatum, Patellar dislocation, Disproportionate prominence of the femoral medial condyle...	OMIM:161200
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Rickets, Enlargement of the costochondral junction, Fibular bowing, Enlargement of the wrists, Bu...	OMIM:264700
Diabetic Embryopathy	Ureteral duplication, Renal hypoplasia/aplasia, Low-set, posteriorly rotated ears, Hydrocephalus,...	ORPHA:1926
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Cholelithiasis, Diarrhea, Keratoconjunctivitis, Female hypogonadism, Hypothyr...	OMIM:240300
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Optic atrophy, Calcinosis, Hypokalemia, Hypocalcemia, Hyponatremia, Splenomegaly	OMIM:617913
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly	ORPHA:66661
Hermansky-Pudlak Syndrome 4	Absent platelet dense granules, Abnormal bleeding, Menorrhagia, Epistaxis, Bruising susceptibility	OMIM:614073
Catecholaminergic Polymorphic Ventricular Tachycardia	Palpitations, Atrial fibrillation, Supraventricular tachycardia, Ventricular fibrillation, Syncop...	ORPHA:3286
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Broad distal phalanx of finger, Dislocated radial head, Short long bone, Large iliac wing, Cupped...	OMIM:271640
Dentici-Novelli Neurodevelopmental Syndrome	Hearing impairment, Macrotia, Motor stereotypy	OMIM:619877
Greenberg Dysplasia	Midface retrusion, Retrognathia, Decreased skull ossification, Multiple prenatal fractures, Bone ...	OMIM:215140
Mulibrey Nanism	Wide nose, Absent frontal sinuses, Dental crowding, Hypoplastic frontal sinuses, Enamel hypoplasi...	OMIM:253250
Neurofaciodigitorenal Syndrome	Abnormal tragus morphology, Unilateral renal agenesis, Mandibular prognathia, Abnormal pinna morp...	ORPHA:2673
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome	Congenital diaphragmatic hernia	ORPHA:438134
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Hepatocellular carcinoma, Prostat...	ORPHA:158057
Skin Creases, Congenital Symmetric Circumferential, 2	Microtia, Microdontia, Ureterocele, Hypospadias, Carious teeth, Downslanted palpebral fissures, C...	OMIM:616734
Congenital Myopathy 17	Low-set ears, Renal hypoplasia, Hydronephrosis, Ureteropelvic junction obstruction, Failure to th...	OMIM:618975
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Lymphocytosis, Va...	OMIM:308240
Mitochondrial Complex I Deficiency, Nuclear Type 10	Optic atrophy, Apnea, Ataxia, Dysphagia, Dysmetria, Central hypoventilation	OMIM:618233
Beemer-Ertbruggen Syndrome	Low-set, posteriorly rotated ears, Cryptorchidism, Communicating hydrocephalus, Micrognathia, Thr...	ORPHA:1237
X-Linked Hypophosphatemia	Reduced bone mineral density, Flared iliac wing, Abnormal epiphysis morphology, Craniosynostosis,...	ORPHA:89936
Osteogenesis Imperfecta, Type Xviii	Thin ribs, Femoral bowing, Abnormality of the dentition, Bowing of the long bones, Generalized os...	OMIM:617952
Septopreoptic Holoprosencephaly	Anteriorly placed anus, Abnormal rib morphology	ORPHA:280195
Neurooculocardiogenitourinary Syndrome	Patent foramen ovale, Tricuspid regurgitation, Bilateral cryptorchidism, Cardiomegaly, Atrial sep...	OMIM:618652
Erythrocytosis, Familial, 1	Myocardial infarction, Increased red blood cell mass, Hypertension, Increased circulating hemoglo...	OMIM:133100
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R...	ORPHA:251380
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Iron deficiency anemia, Lymphadenopathy, Reduced proportion of CD4-n...	ORPHA:37042
Mucopolysaccharidosis, Type Iva	Grayish enamel, Genu valgum, Widely spaced teeth, Joint hypermobility, Pectus carinatum, Prominen...	OMIM:253000
Intellectual Developmental Disorder, Autosomal Dominant 58	Facial hypotonia, Dental crowding, High palate, Protruding tongue, Macrotia, Broad nasal tip, Pos...	OMIM:618106
Distal 7Q11.23 Microduplication Syndrome	Congenital diaphragmatic hernia	ORPHA:261102
Mosaic Trisomy 1	Congenital diaphragmatic hernia, Orofacial cleft, Thick lower lip vermilion, Knee joint hypermobi...	ORPHA:1692
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Gastrointestinal hemorrhage, Abnormality of the lymphatic syst...	ORPHA:1414
Senior-Boichis Syndrome	Polydipsia, Agitation, Tubular luminal dilatation, Chronic kidney disease, Renal atrophy, Abnorma...	ORPHA:84081
Mayer-Rokitansky-Küster-Hauser Syndrome	Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney, Endometriosis, Aplasia of t...	ORPHA:3109
Usher Syndrome, Type Ig	Sensorineural hearing impairment, Hypoplasia of the nasal bone, Abnormal vestibular function	OMIM:606943
Pearson Syndrome	Hepatomegaly, Anemia, Hypokalemia, Pancytopenia, Hypocalcemia, Hyperalaninemia, Reticulocytosis, ...	ORPHA:699
Baraitser-Winter Cerebrofrontofacial Syndrome	Long nose, Palpebral edema, Retrognathia, Highly arched eyebrow, Wide mouth, Long philtrum, Trans...	ORPHA:2995
Osteogenesis Imperfecta, Type X	Osteopenia, Genu valgum, Fibular bowing, Death in childhood, Narrow chest, Thin ribs, Tibial bowi...	OMIM:613848
Parkinson Disease 8, Autosomal Dominant	Bradykinesia, Hyposmia, Resting tremor, Parkinsonism with favorable response to dopaminergic medi...	OMIM:607060
Fragile X-Associated Tremor/Ataxia Syndrome	Bradykinesia, Pollakisuria, Hypertension, Hypotension, Bowel incontinence, Urinary bladder sphinc...	ORPHA:93256
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Metaphyseal cupping, Hypoplastic iliac wing, Thin ribs, Hypoplasia of the calca...	OMIM:300863
Craniofacial Microsomia 1	Occipital encephalocele, Ectopic kidney, Sensorineural hearing impairment, Microtia, Underdevelop...	OMIM:164210
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Recurrent urinary tract infections, Leukopenia, Splenomegaly, Lymphopenia, Ventricu...	OMIM:620210
Cri-Du-Chat Syndrome	Optic atrophy, Abnormality of the kidney, Hypospadias, Hyperactivity, Stenosis of the external au...	OMIM:123450
Recombinant 8 Syndrome	Chronic otitis media, Abnormality of the kidney, Anteverted nares, Gingival overgrowth, Spasticit...	ORPHA:96167
Jansen-De Vries Syndrome	Central diaphragmatic hernia, Anteverted nares, Hyperlordosis, Low-set ears, Posteriorly rotated ...	OMIM:617450
Thanatophoric Dysplasia, Type I	Narrow chest, Short greater sciatic notch, Flared metaphysis, Wide-cupped costochondral junctions...	OMIM:187600
Aminopterin/Methotrexate Embryofetopathy	Low-set, posteriorly rotated ears, Anencephaly, Aplasia/Hypoplasia of the thumb, Encephalocele, N...	ORPHA:1908
Hb Bart'S Hydrops Fetalis	Congestive heart failure, Hepatomegaly, Anemia, Pericarditis, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Osteogenesis Imperfecta, Type Xvi	Osteopenia, Narrow chest, Angulated humerus, Recurrent fractures, Short long bone, Bowing of the ...	OMIM:616229
Wiedemann-Rautenstrauch Syndrome	Ectropion, Small earlobe, Narrow nasal ridge, Hypoplastic facial bones, Short humerus, Dysphagia,...	OMIM:264090
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Congestive heart failure, Jaundice, Chronic lymphatic leukemia, Sple...	ORPHA:90033
Feingold Syndrome	Orofacial cleft, Annular pancreas, Short palpebral fissure, Esophageal atresia, Sensorineural hea...	ORPHA:1305
Mucolipidosis Ii Alpha/Beta	Congestive heart failure, Enlarged kidney, Hepatomegaly, Aortic regurgitation, Hypertrophic cardi...	OMIM:252500
Acrorenal-Mandibular Syndrome	Congenital diaphragmatic hernia, Hypoplasia of the radius, Hypoplasia of the ulna, Narrow palate,...	OMIM:200980
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Low-set ears, Short metacarpal, Renal cyst, Sparse eyelashes, Macrotia, Broad columella, Downslan...	OMIM:250410
Anemia, Congenital Dyserythropoietic, Type Ib	Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,...	OMIM:615631
Progressive Supranuclear Palsy	Bradykinesia, Vertigo, Tremor, Blepharospasm, Rigidity, Dysphagia	ORPHA:683
Capillary Malformation-Arteriovenous Malformation	Congestive heart failure, Abnormal bleeding, Abnormality of the musculature of the limbs, High-ou...	ORPHA:137667
Branchiooculofacial Syndrome	Sensorineural hearing impairment, Microtia, Upslanted palpebral fissure, Malrotation of colon, Ec...	OMIM:113620
Atypical Progressive Supranuclear Palsy Syndrome	Bradykinesia, Oculomotor apraxia, Tremor by anatomical site, Extrapyramidal muscular rigidity, Tr...	ORPHA:99750
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Acute myelomonocytic leukemia, Hypopl...	ORPHA:2585
Keratoconus Posticus Circumscriptus	Limited elbow extension and supination, Vesicoureteral reflux, Cleft upper lip, Cleft palate, Sho...	OMIM:244600
Fatal Familial Insomnia	Abnormal autonomic nervous system physiology, Constipation, Hyperhidrosis, Apnea, Dysphagia, Atax...	OMIM:600072
16Q24.3 Microdeletion Syndrome	Chronic otitis media, Long philtrum, Solitary median maxillary central incisor, Highly arched eye...	ORPHA:261250
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Hypoplasia of the ulna, Hearing abnormality, Aplasia/Hypoplasia of the thumb, Blepharophimosis, M...	ORPHA:1352
X-Linked Parkinsonism-Spasticity Syndrome	Bradykinesia, Babinski sign, Scissor gait, Resting tremor, Spasticity, Cogwheel rigidity, Ankle c...	ORPHA:363654
C Syndrome	Short nose, Renal cortical cysts, Thick anterior alveolar ridges, Anteverted nares, Low-set ears,...	OMIM:211750
Chronic Bilirubin Encephalopathy	Hypertonia, Conjunctival icterus, Sensorineural hearing impairment, Abnormal auditory evoked pote...	ORPHA:529808
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Sacral dimple, Unilateral renal agenesis, Vertebral segmentation defect, Death in infancy, Ureter...	OMIM:618845
Acute Bilirubin Encephalopathy	Hypertonia, Conjunctival icterus, Sensorineural hearing impairment, Abnormal auditory evoked pote...	ORPHA:529799
Kabuki Syndrome	Congenital diaphragmatic hernia, Hypoplasia of penis, Abnormal form of the vertebral bodies, Sens...	ORPHA:2322
Brunet-Wagner Neurodevelopmental Syndrome	Optic atrophy, Self-injurious behavior, Motor stereotypy	OMIM:619690
Darier-White Disease	Enlargement of parotid gland	OMIM:124200
Perlman Syndrome	Congenital diaphragmatic hernia, Distal ileal atresia, Everted upper lip vermilion, Hypoplasia of...	OMIM:267000
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination	Failure to thrive, Motor stereotypy	OMIM:617393
Mucopolysaccharidosis Type 2	Sensorineural hearing impairment, Chronic diarrhea, Hypertension, Cardiomyopathy, Temporomandibul...	ORPHA:580
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat...	OMIM:618534
Legionnaires Disease	Myocarditis, Jaundice, Pancreatitis, Lymphadenopathy, Hematuria, Renal insufficiency, Hypotension...	ORPHA:549
Mosaic Trisomy 8	Wide nose, Abnormal antihelix morphology, Anteverted nares, Abnormal pinna morphology, Vesicouret...	ORPHA:96061
Mycophenolate Mofetil Embryopathy	Congenital diaphragmatic hernia, Orofacial cleft, Ectopic kidney, Tracheomalacia, Hydrocephalus, ...	ORPHA:268249
Vacterl/Vater Association	Congenital diaphragmatic hernia, Finger syndactyly, Non-midline cleft of the upper lip, Abnormal ...	ORPHA:887
Desmosterolosis	Short nose, Joint contracture of the hand, Rhizomelia, Gingival fibromatosis, Hydrocephalus, Ante...	OMIM:602398
Cleidocranial Dysplasia 2	Osteopenia, Supernumerary tooth, Genu valgum, Delayed pubic bone ossification, Wide anterior font...	OMIM:620099
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Short nose, Hearing abnormality, Low-set, posteriorly rotated ears, Meningocele, Anteverted nares...	ORPHA:2031
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Hydrocephalus, Ureteral triplication, High palate, Low-set ears, Absent nipple, Ptosis, Downslant...	OMIM:104350
Opitz Gbbb Syndrome	Congenital diaphragmatic hernia, Tracheoesophageal fistula, Umbilical hernia, Long philtrum, Cran...	ORPHA:2745
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Congestive heart failure, Atrial flutter, Heart block, Atrial fibrillation, Supraventricular tach...	ORPHA:300751
Lymphatic Malformation 8	Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion, Nonimmune hydrops fetalis	OMIM:618773
Isolated Arrhinia	Midline defect of the nose, Microtia, Aplasia/Hypoplasia of the nasal septum, Absent nasal septal...	ORPHA:1134
Severe Intellectual Disability And Progressive Spastic Paraplegia	Overweight, Dystonia, Motor stereotypy	ORPHA:280763
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Rickets, Hypophosphatemic rickets, Enlargement of the costochondral junction, Fibular bowing, Enl...	OMIM:241530
Lathosterolosis	Anisopoikilocytosis, Short nose, Hypoplasia of penis, Meningocele, Anteverted nares, Gingival ove...	ORPHA:46059
Cartilage-Hair Hypoplasia	Abnormal bone ossification, Abnormal hip bone morphology, Pectus carinatum, Tibial bowing, Abnorm...	ORPHA:175
Cole-Carpenter Syndrome 2	Osteopenia, Lambdoidal craniosynostosis, Narrow iliac wing, Thin ribs, High palate, Pectus excava...	OMIM:616294
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Large earlobe, Prominent ear helix, Motor stereotypy	ORPHA:411986
Microphthalmia, Syndromic 9	Renal malrotation, Multilobulated spleen, Hypoplastic left atrium, Pelvic kidney, Truncus arterio...	OMIM:601186
Ciliary Dyskinesia, Primary, 35	Chronic otitis media, Nasal polyposis, Chronic sinusitis, Chronic rhinitis	OMIM:617092
Skin Creases, Congenital Symmetric Circumferential, 1	Short palpebral fissure, Blepharophimosis, Hypoplastic nipples, Low-set ears, High palate, Narrow...	OMIM:156610
Sclerosteosis 1	Tooth malposition, Broad clavicles, Facial palsy, Abnormal pelvic girdle bone morphology, Deviati...	OMIM:269500
Hermansky-Pudlak Syndrome 8	Excessive bleeding from superficial cuts, Gingival bleeding, Menorrhagia, Epistaxis, Bruising sus...	OMIM:614077
3-Methylglutaconic Aciduria, Type Viii	3-Methylglutaconic aciduria, Hypertonia, Bradycardia, Sensorineural hearing impairment, Tremor, C...	OMIM:617248
Chromosome 8Q22.1 Duplication Syndrome	Cubitus valgus, Cervical C2/C3 vertebral fusion, Genu recurvatum, Limitation of joint mobility, J...	OMIM:151200
Ritscher-Schinzel Syndrome 4	Chorea, Athetosis, Impulsivity, Macrotia, Ataxia, Dysphagia, Motor stereotypy, Micropenis, Aggres...	OMIM:619435
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Sensorineural hearing impairment, Vesicoureteral reflux, Renal cyst, Failur...	OMIM:618460
Leprosy	Abnormal seventh cranial physiology, Abnormality of the adrenal glands, Loss of eyelashes, Abnorm...	ORPHA:548
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Interictal epileptiform activity, Bilateral conductive hearing impairment, Low-set ears	OMIM:617802
Osteogenesis Imperfecta, Type Iii	Slender long bone, Thin ribs, Tibial bowing, Multiple prenatal fractures, Decreased calvarial oss...	OMIM:259420
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Ureteral duplication, Abnormal pancreas morphology, Congenital meg...	ORPHA:116
Mitochondrial Trifunctional Protein Deficiency	Hypocalcemia, Cholestasis, Pigmentary retinopathy, Diffuse hepatic steatosis	ORPHA:746
Dyssegmental Dysplasia, Silverman-Handmaker Type	Occipital encephalocele, Pterygium, Narrow mouth, Micromelia, Micrognathia, Neonatal death, Poste...	OMIM:224410
Igg4-Related Ophthalmic Disease	Palpebral edema, Abnormality of infra-orbital nerve, Abnormality of the orbital region, Sinusitis...	ORPHA:449563
Spondyloepiphyseal Dysplasia Congenita	Limited elbow movement, Genu valgum, Reduced bone mineral density, Barrel-shaped chest, Small epi...	ORPHA:94068
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hematuria, Unilateral renal dysplasia, Aplasia of the vagina, Aplasia of the uterus, Nephrotic sy...	OMIM:146255
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Sensorineural hearing impairment, Abnormal auditory evoked potentials, Optic disc pallor	OMIM:619260
8P11.2 Deletion Syndrome	Hypoplasia of penis, Abnormal pinna morphology, Spherocytosis, High palate, Anosmia, Abnormality ...	ORPHA:251066
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly	ORPHA:88643
Spondyloepimetaphyseal Dysplasia, Missouri Type	Limited elbow extension, Small epiphyses, Ulnar bowing, Metaphyseal cupping, Flared metaphysis, T...	OMIM:602111
Bare Lymphocyte Syndrome, Type I	Chronic otitis media, Chronic sinusitis, Nasal polyposis	OMIM:604571
Congenital Disorder Of Glycosylation, Type Ig	Hypocalcemia, Retinal detachment	OMIM:607143
Multiple Mitochondrial Dysfunctions Syndrome 7	Hypertonia, Ankle clonus, Anteverted nares, Gingival overgrowth, Exaggerated startle response, Ap...	OMIM:620423
Pulmonary Edema Of Mountaineers, Susceptibility To	Edema, Pulmonary edema	OMIM:178400
Chromosome 5P13 Duplication Syndrome	Vesicoureteral reflux, Low-set ears, Compulsive behaviors, Posteriorly rotated ears, Motor stereo...	OMIM:613174
Neuroleptic Malignant Syndrome	Pulmonary embolism, Acute kidney injury, Urinary incontinence, Bradycardia, Myoglobinuria, Hypert...	ORPHA:94093
Peroxisome Biogenesis Disorder 12A (Zellweger)	Cholelithiasis, Hydrocephalus, Wide anterior fontanel, Prominent nose, Delayed closure of the ant...	OMIM:614886
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni...	OMIM:613011
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
3-Hydroxy-3-Methylglutaric Aciduria	Prolonged prothrombin time, Anemia, Episodic vomiting, Spastic hemiparesis, Diarrhea, Spasticity,...	ORPHA:20
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Mandibular prognathia, Scoliosis, Low-set ears, Everted lower lip vermilion, High palate, Protrud...	OMIM:617804
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Narrow mouth, Neonatal deat...	OMIM:227270
Fanconi Anemia, Complementation Group L	Unilateral renal agenesis, Microtia, Low-set ears, Renal hypoplasia, Anotia, Attention deficit hy...	OMIM:614083
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Trichiasis, Entropion, Hypospadias, Short philtrum, Sensorineural hearing impairment, High palate...	OMIM:609944
Hyperekplexia 3	Hypertonia, Gastroesophageal reflux, Exaggerated startle response, Apnea, Myoclonus, Syncope, Hia...	OMIM:614618
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Vesicoureteral reflux, Renal hypoplasia, Ureteropelvic junction obstru...	OMIM:610805
Neurodegeneration With Brain Iron Accumulation 5	Bradykinesia, Tremor, Abnormal autonomic nervous system physiology, Rigidity, Parkinsonism, Spast...	OMIM:300894
1Q41Q42 Microdeletion Syndrome	Congenital diaphragmatic hernia, Hyposegmentation of neutrophil nuclei, Hypergonadotropic hypogon...	ORPHA:250999
Intellectual Developmental Disorder, Autosomal Dominant 54	Widely spaced teeth, Neutropenia, Hyperkinetic movements, Gastroesophageal reflux, Athetoid cereb...	OMIM:617799
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Telecanthus, Renal cortical cysts, Anteverted nares, Vesicoureteral reflux, Diastasis recti, Ptos...	OMIM:618548
Basel-Vanagaite-Smirin-Yosef Syndrome	Retrognathia, High, narrow palate, Hypospadias, Short philtrum, Cholelithiasis, Anteverted nares,...	ORPHA:464738
Acrocapitofemoral Dysplasia	Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ...	OMIM:607778
C Syndrome	Congenital diaphragmatic hernia, Dislocated radial head, Death in infancy, Abnormality of the anu...	ORPHA:1308
14Q22Q23 Microdeletion Syndrome	Short 4th metacarpal, Diabetes insipidus, Hearing impairment, Atresia of the external auditory ca...	ORPHA:264200
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Abnormal rib morphology	ORPHA:2578
Congenital Disorder Of Glycosylation, Type Ij	Hypertonia, Tremor, Micrognathia, Apnea, Flexion contracture, Cryptorchidism	OMIM:608093
Generalized Arterial Calcification Of Infancy	Mixed hearing impairment, Sensorineural hearing impairment, Hypertension, Nephrocalcinosis, Pancr...	ORPHA:51608
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Jaundice, Hepatomegaly, Hypocalcemia, Hypoproteinemia, Elevated circulating creatine kinase conce...	ORPHA:26793
Osteogenesis Imperfecta, Type Xv	Joint hypermobility, Thin ribs, Bowing of limbs due to multiple fractures, Recurrent fractures	OMIM:615220
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Abnormal rib morphology, Sternocleidomastoid amyotrophy, Broad femoral neck, Thickene...	ORPHA:488434
Microcephaly-Micromelia Syndrome	Short palpebral fissure, Aqueductal stenosis, Wide nose, Narrow mouth, Low-set ears, Missing ribs...	OMIM:251230
Symptomatic Form Of Hfe-Related Hemochromatosis	Congestive heart failure, Cirrhosis, Hepatomegaly, Elevated jugular venous pressure, Hepatocellul...	ORPHA:465508
Intellectual Developmental Disorder, X-Linked 98	Urinary incontinence, Hyperactivity, Recurrent hand flapping, Stereotypical hand wringing, Macrot...	OMIM:300912
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Dicarboxylic aciduria, Arrhythmia, Cardiomegaly, Elevated urinary 3-hydroxybutyric ...	ORPHA:42
Bent Bone Dysplasia Syndrome 2	Osteopenia, Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Short tibia, Short ribs, Femoral...	OMIM:620076
Immunodeficiency 9	Amelogenesis imperfecta, Recurrent aphthous stomatitis, Abnormal natural killer cell count, Stoma...	OMIM:612782
Coffin-Siris Syndrome 7	Recurrent otitis media, Hyperactivity, Low-set ears, Compulsive behaviors, Hearing impairment, Ma...	OMIM:618027
Hermansky-Pudlak Syndrome 5	Absent platelet dense granules, Menorrhagia, Epistaxis, Thrombocytopenia, Bruising susceptibility...	OMIM:614074
Tetraamelia Syndrome 2	Glossoptosis, Low-set ears, Absent nipple, Ankyloglossia, Micrognathia, Cleft palate, Microretrog...	OMIM:618021
Ulnar-Mammary Syndrome	Abnormal clavicle morphology, Aplasia of the pectoralis major muscle, Abnormality of the wrist, A...	ORPHA:3138
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal tubular epithelial necrosis, Hepatomegaly, Heart block, Dicarboxylic aciduria, Renal insuff...	ORPHA:228308
Cole-Carpenter Syndrome	Abnormal metaphysis morphology, Crumpled long bones, Delayed eruption of teeth, Abnormal dental e...	ORPHA:2050
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Ureteral duplication, Rectovaginal fistula, Low-set ears, Choanal atresia, Anal atresia, Intestin...	OMIM:270420
Acrofacial Dysostosis 1, Nager Type	Congenital diaphragmatic hernia, Retrognathia, Midface retrusion, Temporomandibular joint ankylos...	OMIM:154400
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Congestive heart failure, Jaundice, Anemia, Cholelithiasis...	ORPHA:846
9Q21.13 Microdeletion Syndrome	Abnormal tongue morphology, Scoliosis, Vertebral segmentation defect, Downturned corners of mouth...	ORPHA:531151
Parkinson Disease, Late-Onset	Bradykinesia, Resting tremor, Tremor, Abnormal autonomic nervous system physiology, Urinary urgen...	OMIM:168600
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Cardiomegaly, Hepatomegaly, Pulmonary arterial hypertension	OMIM:619064
Osteogenesis Imperfecta, Type I	Hearing impairment, Otosclerosis	OMIM:166200
Joubert Syndrome 30	Ptosis, Tachypnea, Apnea	OMIM:617622
Interatrial Communication	Congestive heart failure, Atrial septal defect, Atrial flutter, Sinus venosus atrial septal defec...	ORPHA:1478
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Lymphadenopathy, B lymphocytopenia, Abscess, Splenomegaly, Intermittent thrombocytopenia, Abnorma...	OMIM:150550
Distal 22Q11.2 Microduplication Syndrome	Palpebral edema, Long philtrum, Short philtrum, Hydrocephalus, Abnormal helix morphology, Downsla...	ORPHA:261337
Hamamy Syndrome	Sensorineural hearing impairment, Everted lower lip vermilion, Wide mouth, Prolonged QRS complex,...	OMIM:611174
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Hyperactivity, Macrotia, Motor stereotypy, Aggressive behavior	ORPHA:391307
Jacobsen Syndrome	Nasolacrimal duct obstruction, Optic atrophy, Hypospadias, Hydrocephalus, Anteverted nares, Holop...	OMIM:147791
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Low-set ears, Conductive hearing impairment, Posteriorly rotated ears	OMIM:617877
Splenoportal Vascular Anomalies	Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis	OMIM:271500
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Bradykinesia, Resting tremor, Chorea, Cogwheel rigidity, Intention tremor, Ataxia, Parkinsonism, ...	OMIM:619725
Ocular Motor Apraxia	Jerky head movements	OMIM:257550
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Wide mouth, Long philtrum, Optic atrophy, Hypospadias, Short philtrum, Oligodontia, Short foot, C...	OMIM:309590
Renal And Mullerian Duct Hypoplasia	Aplasia of the uterus, Anteriorly displaced urethral meatus, Renal hypoplasia, Horseshoe kidney, ...	OMIM:266810
Alazami Syndrome	Low-set ears, Stereotypical hand wringing, Motor stereotypy, Abnormal eating behavior, Self-mutil...	ORPHA:319671
Glycogen Storage Disease Ii	Hepatomegaly, Wolff-Parkinson-White syndrome, Urinary incontinence, Right axis deviation, Sinus t...	OMIM:232300
Hurler Syndrome	Abnormal clavicle morphology, Abnormal diaphysis morphology, Abnormality of the elbow, Limitation...	ORPHA:93473
Ciliary Dyskinesia, Primary, 1	Chronic otitis media, Absent outer dynein arms, Absent frontal sinuses, Anosmia, Nasal polyposis,...	OMIM:244400
Pai Syndrome	Midline defect of the nose, Telecanthus, Encephalocele, Nasal polyposis, Abnormal oral frenulum m...	ORPHA:1993
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Bifid uvula, Craniosynostosis, Scoliosis, Abnormal helix morphology, Oligodontia, Furrowed tongue...	ORPHA:453499
Pericardial And Diaphragmatic Defect	Congenital diaphragmatic hernia, Meckel diverticulum, Abnormal sternum morphology, Aplasia of the...	ORPHA:2847
Orofaciodigital Syndrome I	Myelomeningocele, Ovarian cyst, Tongue nodules, Alveolar ridge overgrowth, Hydrocephalus, Polycys...	OMIM:311200
Pseudotrisomy 13 Syndrome	Low-set ears, Renal agenesis, Renal hypoplasia, Posteriorly rotated ears, Micropenis	OMIM:264480
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Dicarboxylic aciduria, Renal tubular acidosis, Arrhythmia, Cardiomegaly, Hepatic st...	OMIM:255120
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Hypertriglyceridemia, Increased circulating ferritin concentration, Impaired lymphocyte transform...	OMIM:619313
Menke-Hennekam Syndrome 1	Everted upper lip vermilion, Agenesis of permanent teeth, Short ear, Prominent inferior crus of a...	OMIM:618332
Hereditary Acrokeratotic Poikiloderma	Abnormal hip bone morphology, Abnormal metacarpal morphology, Finger syndactyly, Open bite, Gingi...	ORPHA:2907
Dextrocardia	Situs inversus totalis, Dextrocardia, Abnormal renal morphology, Pancreatic hypoplasia, Abnormali...	ORPHA:1666
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Aplasia of the distal phalanx of the 5th toe, Sensorineural hearing impairment, Everted lower lip...	OMIM:608670
Rubinstein-Taybi Syndrome 1	Retrognathia, Dislocated radial head, Dental crowding, Premature thelarche, Delayed skeletal matu...	OMIM:180849
Marburg Hemorrhagic Fever	Jaundice, Pancreatitis, Lymphadenopathy, Bradycardia, Capillary leak, Neutrophilia in presence of...	ORPHA:99826
Vici Syndrome	Optic atrophy, Renal tubular acidosis, Sensorineural hearing impairment, Cardiomyopathy, High pal...	ORPHA:1493
Joubert Syndrome 22	Renal hypoplasia	OMIM:615665
7Q11.23 Microduplication Syndrome	Congenital diaphragmatic hernia, Retrognathia, Chronic otitis media, Abnormal earlobe morphology,...	ORPHA:96121
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Tremor, Compulsive behaviors, Macrotia, Dysphagia, Motor stereotypy, Pain insensitivity, Attentio...	OMIM:617061
Harderoporphyria	Hepatomegaly, Increased urine harderoporphyrin level, Increased urinary porphobilinogen, Red urin...	OMIM:618892
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Supraumbilical raphe, Bifid sternum	OMIM:140850
Holoprosencephaly 7	Midface retrusion, Solitary median maxillary central incisor, Bilateral cleft palate, Unilateral ...	OMIM:610828
Ciliary Dyskinesia, Primary, 30	Absent outer dynein arms, Recurrent otitis media, Nasal congestion, Nasal polyposis, Chronic sinu...	OMIM:616037
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Anemia, Reduced hematocrit, Hypospadias, Anemia of inadequate production, Persisten...	OMIM:613673
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Enlarged kidney, Abnormal right ventricle morphology, Chronic neutropenia, Tra...	ORPHA:500095
Hypohidrotic Ectodermal Dysplasia	Keratoconjunctivitis sicca, Breast aplasia, Anteverted nares, Abnormality of the dentition, Tooth...	ORPHA:238468
Pallister-Killian Syndrome	Congenital diaphragmatic hernia, Upslanted palpebral fissure, Everted lower lip vermilion, Intest...	OMIM:601803
Immunodeficiency 27A	Anemia, Thrombocytosis, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Enlarged...	OMIM:209950
Mucolipidosis Type Iii Alpha/Beta	Sensorineural hearing impairment, Recurrent otitis media, Conductive hearing impairment	ORPHA:423461
Osteopathia Striata-Cranial Sclerosis Syndrome	Retrognathia, High, narrow palate, Spina bifida occulta, Delayed eruption of teeth, Low-set ears,...	ORPHA:2780
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Mediastinal lymphadenopathy, Hemophagocytosis, Decreased proportion ...	OMIM:619802
Wolfram Syndrome, Mitochondrial Form	Optic atrophy, Hydroureter, Diabetes insipidus, Sensorineural hearing impairment, Megaloblastic a...	OMIM:598500
Mucopolysaccharidosis, Type Ivb	Grayish enamel, Genu valgum, Widely spaced teeth, Joint hypermobility, Prominent sternum, Osteopo...	OMIM:253010
Intellectual Developmental Disorder, Autosomal Dominant 48	Recurrent otitis media, Hypospadias, Hyperactivity, Sensorineural hearing impairment, Low-set ear...	OMIM:617751
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Prolonged neonatal jaundice, Bradycardia	ORPHA:226313
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly	OMIM:613101
Paget Disease Of Bone 2, Early-Onset	Bilateral conductive hearing impairment, Cranial nerve paralysis	OMIM:602080
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations	Gastroesophageal reflux, Rigidity, Apnea, Myoclonus, Central hypoventilation	OMIM:300673
Tetraamelia-Multiple Malformations Syndrome	Optic atrophy, Orofacial cleft, Hydrocephalus, Microtia, Narrow mouth, Anal atresia, Septo-optic ...	ORPHA:3301
Floating-Harbor Syndrome	Long nose, Cochlear malformation, Microdontia, Short metacarpal, Nephrocalcinosis, Wide mouth, Co...	ORPHA:2044
Perry Syndrome	Hypoventilation, Bradykinesia, Tremor, Rigidity, Parkinsonism, Central hypoventilation	OMIM:168605
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal salt wasting, Decreased glomerular filtration rate, Glomerular sclerosis, Tubulointerstitia...	OMIM:174000
Retinitis Pigmentosa	Optic atrophy, Sensorineural hearing impairment, Conductive hearing impairment, Optic disc pallor	ORPHA:791
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Atresia of the external auditory canal, Conductive hearing impairment, Simple ear	OMIM:602471
D-Glyceric Aciduria	Micropenis, Aminoaciduria, Bradycardia	OMIM:220120
Essential Thrombocythemia	Acute leukemia, Transient ischemic attack, Leukocytosis, Abnormal platelet morphology, Splenomega...	ORPHA:3318
Developmental And Epileptic Encephalopathy 6B	Chorea, Dystonia, Ataxia, Motor stereotypy, Choreoathetosis	OMIM:619317
Trichorhinophalangeal Syndrome Type 2	Protruding ear, Conductive hearing impairment, Low-set, posteriorly rotated ears	ORPHA:502
Angelman Syndrome	Widely spaced teeth, Mandibular prognathia, Scoliosis, Protruding tongue, Hypoplasia of the maxil...	OMIM:105830
Developmental And Epileptic Encephalopathy 30	Motor stereotypy	OMIM:616341
Laryngotracheoesophageal Cleft Type 4	Intestinal atresia, Tracheoesophageal fistula, Abnormal rib morphology	ORPHA:93941
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H...	ORPHA:2133
Transaldolase Deficiency	Atrial septal defect, Cirrhosis, Hepatomegaly, Anemia, Clitoral hypertrophy, Pancytopenia, Patent...	OMIM:606003
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	High, narrow palate, Thick lower lip vermilion, Wolff-Parkinson-White syndrome, Underdeveloped su...	ORPHA:369950
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Congenital diaphragmatic hernia, Preaxial polydactyly, Narrow chest, Short ribs, Postaxial polyda...	OMIM:616546
Kyphomelic Dysplasia	Lateral clavicle hook, Ulnar bowing, Pterygium, Bowed humerus, Flared metaphysis, Dumbbell-shaped...	OMIM:211350
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly	OMIM:224100
Coach Syndrome 2	Oculomotor apraxia, Hydrocephalus, Hypertension, Hyperechogenic kidneys, Apneic episodes in infancy	OMIM:619111
Endocrine-Cerebroosteodysplasia	Enlarged kidney, Hypospadias, Microphallus, Hyperechogenic kidneys, Small scrotum, Ambiguous geni...	OMIM:612651
Alagille Syndrome 2	Hematuria, Renal tubular acidosis, Renal cyst, Renal hypoplasia, Proteinuria, Renal insufficiency	OMIM:610205
Pituitary Carcinoma	Enlarged pituitary gland, Pituitary gonadotropic cell adenoma, Diabetes insipidus, Increased circ...	ORPHA:300385
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Intrahepatic cholestasis, Cardiomegaly, Increased hepatic glycogen content, Tachyca...	OMIM:614921
Spherocytosis, Type 5	Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia...	OMIM:612690
Familial Thyroid Dyshormonogenesis	Prolonged neonatal jaundice, Bradycardia	ORPHA:95716
Immunodeficiency 109 With Lymphoproliferation	Absent circulating B cells, Generalized lymphadenopathy, Splenomegaly, Pancytopenia	OMIM:620282
Dubowitz Syndrome	Aplastic anemia, Chronic diarrhea, Agenesis of permanent teeth, Hypospadias, Episodic vomiting, S...	OMIM:223370
Cockayne Syndrome Type 3	Hydroureter, Unilateral renal agenesis, Renal insufficiency, Neurogenic bladder, Adult onset sens...	ORPHA:90324
Cerebral Creatine Deficiency Syndrome 1	Underfolded superior helices, Aganglionic megacolon, Elevated urinary creatine/creatinine ratio, ...	OMIM:300352
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Clumsiness, Postural tremor	OMIM:619911
Neuroferritinopathy	Bradykinesia, Babinski sign, Hypomimic face, Resting tremor, Chorea, Blepharospasm, Involuntary m...	ORPHA:157846
Craniofrontonasal Syndrome	Congenital diaphragmatic hernia, Axillary pterygium, Clinodactyly of the 5th finger, Abnormality ...	OMIM:304110
Hereditary Pheochromocytoma-Paraganglioma	Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Cranial nerve compression, Paraganglioma...	ORPHA:29072
Parkinson Disease 7, Autosomal Recessive Early-Onset	Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bl...	OMIM:606324
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome	Meningocele, Non-midline cleft of the upper lip, Bilateral cleft palate, Depressed nasal ridge, T...	ORPHA:2003
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Infantile Neuroaxonal Dystrophy	Optic atrophy, Spasticity, Progressive spasticity, Spastic tetraparesis, Abnormal autonomic nervo...	ORPHA:35069
Parkinson Disease 17	Bradykinesia, Resting tremor, Tremor, Rigidity, Parkinsonism	OMIM:614203
Opitz-Kaveggia Syndrome	Sensorineural hearing impairment, Dental crowding, Intestinal malrotation, Microtia, first degree...	OMIM:305450
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency	Furrowed tongue	OMIM:165150
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Esophageal atresia, Meckel diverticulum, Diastasis recti, Congenital shortened small intestine, T...	OMIM:265380
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Everted upper lip vermilion, Recurrent otitis media, Absent cupid's bow, Abnormal Eustachian tube...	ORPHA:513456
Hartsfield Syndrome	Semilobar holoprosencephaly, Hypospadias, Wide nose, Diabetes insipidus, Alobar holoprosencephaly...	OMIM:615465
Calvarial Doughnut Lesions With Bone Fragility	Mixed hearing impairment	OMIM:126550
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil...	ORPHA:766
Bronchopulmonary Dysplasia	Respiratory distress, Diaphragmatic paralysis, Dyspnea, Right ventricular failure, Right ventricu...	ORPHA:70589
Lymphatic Malformation 7	Pulmonary edema, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuchal translucenc...	OMIM:617300
Beta-Thalassemia Intermedia	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Proximal tubulopathy, Anemia of inadequate pro...	ORPHA:231222
Double Outlet Right Ventricle	Narrow palpebral fissure, Hypoparathyroidism, Tachycardia, Narrow mouth, Intestinal malrotation, ...	ORPHA:3426
Pentalogy Of Cantrell	Congenital diaphragmatic hernia, Orofacial cleft, Abnormal tibia morphology, Non-midline cleft of...	ORPHA:1335
Testicular Regression Syndrome	Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni...	ORPHA:983
Parkinson Disease 14, Autosomal Recessive	Pill-rolling tremor, Eyelid myoclonus, Bradykinesia, Hypomimic face, Ankle clonus, Resting tremor...	OMIM:612953
Fetal Akinesia Deformation Sequence 1	Rocker bottom foot, Stillbirth, High, narrow palate, Slender long bone, Thin ribs, High palate, W...	OMIM:208150
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Death in childhood, Hypoplasia of the thymus, Lymphopenia	OMIM:200900
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Chronic tubulointerstitial nephritis, Renal hypoplasia, Proteinuria, Stage 5 chronic kidney disea...	OMIM:614376
Xia-Gibbs Syndrome	Small earlobe, Low-set ears, Ptosis, Uplifted earlobe, Downslanted palpebral fissures, Micrognath...	OMIM:615829
Microcephaly With Cervical Spine Fusion Anomalies	Spinal instability, Vertebral fusion	OMIM:251250
Neurodegeneration With Brain Iron Accumulation 1	Optic atrophy, Babinski sign, Bradykinesia, Urinary incontinence, Abnormality of extrapyramidal m...	OMIM:234200
Dahlberg-Borer-Newcomer Syndrome	Hypocalcemia	ORPHA:1563
Cenani-Lenz Syndactyly Syndrome	Renal agenesis, Renal hypoplasia, Ectopic kidney	OMIM:212780
Pseudohermaphroditism, Female, With Skeletal Anomalies	Hypoplasia of the maxilla, Ulnar radial head dislocation, Short mandibular condyles	OMIM:264270
Ciliary Dyskinesia, Primary, 19	Recurrent otitis media, Nasal polyposis, Rhinitis, Recurrent sinusitis, Absent inner and outer dy...	OMIM:614935
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Urethral obstruction, Renal hypoplasia, Renal dysplasia, Urinary bladder wall hypertrophy	OMIM:601389
Primary Ciliary Dyskinesia	Chronic otitis media, Recurrent otitis media, Hydrocephalus, Nasal congestion, Chronic rhinitis, ...	ORPHA:244
Deafness-Craniofacial Syndrome	Abnormal palate morphology, Short philtrum, Sensorineural hearing impairment, Short lingual frenu...	ORPHA:3241
Schisis Association	Congenital diaphragmatic hernia, Tracheoesophageal fistula, Anal atresia, Cleft palate, Unilatera...	ORPHA:63862
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Cardiac arrest, Cardiomyopathy, Nephrotic syndrome, Left ventricular hypertrophy, C...	OMIM:617713
Caudal Regression Syndrome	Orofacial cleft, Aplasia/Hypoplasia of the sacrum, Ureteral duplication, Maternal diabetes, Ectop...	ORPHA:3027
Metaphyseal Chondrodysplasia, Jansen Type	Hypoparathyroidism, Tooth malposition, Hypercalciuria, Short ribs, Choanal atresia, Hearing impai...	OMIM:156400
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Gastrointestinal hemorrhage, Jaundice, Anemia, Periportal f...	ORPHA:64743
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Joint hypermobility, Thin ribs, High palate	ORPHA:456328
Renpenning Syndrome 1	Hypospadias, Short philtrum, Phimosis, Camptodactyly, Hearing impairment, Sparse lateral eyebrow,...	OMIM:309500
Central Hypoventilation Syndrome, Congenital, 3	Episodic vomiting, Episodic hypertension, Apnea, Chronic constipation, Central hypoventilation	OMIM:619483
Hartnup Disorder	Glossitis	OMIM:234500
Hydrolethalus	Retrognathia, Gingival cleft, Low-set, posteriorly rotated ears, Anencephaly, Hydrocephalus, Low-...	ORPHA:2189
Spinocerebellar Ataxia Type 8	Bradykinesia, Limb ataxia, Urinary incontinence, Spastic dysarthria, Spasticity, Gait ataxia, Rig...	ORPHA:98760
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic val...	OMIM:231005
Orofaciodigital Syndrome Type 5	Supernumerary tooth, High, narrow palate, Aganglionic megacolon, Absent cupid's bow, Agenesis of ...	ORPHA:2919
Congenital Disorder Of Glycosylation, Type Iit	Low-set ears, Conductive hearing impairment, Posteriorly rotated ears	OMIM:618885
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve...	OMIM:607450
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Vomiting, Apnea, Opisthotonus, 3-hydroxyisovaleric aciduria, Elevated urinary 3-methylcrotonylgly...	OMIM:210200
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, Myeloproliferative diso...	ORPHA:3226
Distal Deletion 6P	Orofacial cleft, Short philtrum, Wide nose, Anteverted nares, Underdeveloped nasal alae, Low-set ...	ORPHA:96125
Non-Acquired Panhypopituitarism	Delayed puberty, Absence of secondary sex characteristics, Decreased response to growth hormone s...	ORPHA:90695
Ramos-Arroyo Syndrome	Deviated nasal septum, Aganglionic megacolon, Abnormal midface morphology, Smooth tongue, Antever...	ORPHA:1051
Hypocalcemic Vitamin D-Resistant Rickets	Hypocalcemia, Hypophosphatemia	ORPHA:93160
Hajdu-Cheney Syndrome	Intestinal malrotation, Long philtrum, Hypospadias, Hydrocephalus, Polycystic kidney dysplasia, A...	OMIM:102500
Short-Rib Thoracic Dysplasia 12	Short long bone, Short ribs, Intestinal malrotation, Short finger, Short thorax, Short palm, Lobu...	OMIM:269860
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Kyphoscoliosis, Retrognathia, Microtia, Miscarriage, Long philtrum, Large placenta, Short philtru...	ORPHA:96334
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Rett Syndrome, Congenital Variant	Tongue thrusting, Chorea, Athetosis, Dystonia, Motor stereotypy, Protruding ear, Bruxism	OMIM:613454
Distal Deletion 12Q	Kyphoscoliosis, Ectopic kidney, Microtia, Pituitary adenoma, Long philtrum, Anteverted nares, Pol...	ORPHA:96149
Developmental And Epileptic Encephalopathy 99	Eyelid myoclonus, Central apnea	OMIM:619606
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Splenomegaly, Hepatitis	OMIM:300635
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Anemia, Azoospermia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated he...	OMIM:615234
Proximal 16P11.2 Microduplication Syndrome	Congenital diaphragmatic hernia, Arachnodactyly, Thin upper lip vermilion, Smooth philtrum	ORPHA:370079
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Short long bone, Femoral bowing, Thoracic hypoplasia, Metaphyseal irregularity, Joint hypermobili...	OMIM:618019
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Jaundice, Anemia, Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Anis...	OMIM:616860
Gerstmann-Straussler Disease	Bradykinesia, Limb ataxia, Apraxia, Truncal ataxia, Spasticity, Tremor, Gait ataxia, Rigidity, Pa...	OMIM:137440
Say-Barber-Miller Syndrome	Highly arched eyebrow, Lower limb hypertonia, Hypogonadism, Impaired neutrophil chemotaxis, Optic...	ORPHA:3132
Isolated Anencephaly	Congenital diaphragmatic hernia, Cleft lip	ORPHA:563609
Autosomal Dominant Popliteal Pterygium Syndrome	Popliteal pterygium, Finger syndactyly, Non-midline cleft of the upper lip, Split hand, Abnormal ...	ORPHA:1300
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Abnormal temper tantrums, Recurrent otitis media, Hyperactivity, Recurrent hand flapping, Macroti...	ORPHA:449291
Fish-Eye Disease	Angina pectoris, Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:79292
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Hyperactivity, Microphallus, Gait ataxia, Macrotia, Motor stereotypy, Micropenis, Self-mutilation	OMIM:300486
Holoprosencephaly-Postaxial Polydactyly Syndrome	Orofacial cleft, Low-set, posteriorly rotated ears, Hypospadias, Hypoplasia of penis, Encephaloce...	ORPHA:2166
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Optic atrophy, Lower limb spasticity, Homocystinuria, Hydrocephalus, Upper motor neuron dysfuncti...	ORPHA:395
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Widely spaced teeth, Conical tooth, Delayed eruption of teeth, Abnormal dental enamel morphology,...	ORPHA:1071
Hypermanganesemia With Dystonia 1	Bradykinesia, Abnormality of extrapyramidal motor function, Poor fine motor coordination, Tremor,...	OMIM:613280
Spinocerebellar Ataxia 36	Tongue fasciculations, Skeletal muscle atrophy, Tongue atrophy	OMIM:614153
Orofaciodigital Syndrome Vi	Radial deviation of finger, Tibial bowing, Accessory oral frenulum, Tongue nodules, Clinodactyly,...	OMIM:277170
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl...	ORPHA:521
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Neph...	OMIM:618935
Pagod Syndrome	Situs inversus totalis, Renal hypoplasia/aplasia, Agonadism, Abnormal testis morphology, Abnormal...	ORPHA:991
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Recurrent otitis media, Abnormal earlobe morphology, Hypospadias, Sensorineural hearing impairmen...	ORPHA:500159
Scalp-Ear-Nipple Syndrome	Pyelonephritis, Unilateral renal agenesis, Small earlobe, Microtia, Underdeveloped tragus, Low-se...	OMIM:181270
Nijmegen Breakage Syndrome	Long nose, Rhabdomyosarcoma, T lymphocytopenia, Sinusitis, Choanal atresia, Cleft palate, Deep ph...	OMIM:251260
Cerebellar-Facial-Dental Syndrome	S-shaped palpebral fissures, Abnormal T-wave, Limb hypertonia, Foot joint contracture, Anteverted...	ORPHA:444072
Trisomy 18	Congenital diaphragmatic hernia, Short nose, Narrow palate, Low-set, posteriorly rotated ears, Es...	ORPHA:3380
Primrose Syndrome	Delayed puberty, Midface retrusion, Reduced bone mineral density, Kyphosis, Generalized osteoporo...	OMIM:259050
Yellow Fever	Hematemesis, Acute kidney injury, Jaundice, Reduced left ventricular ejection fraction, Bradycard...	ORPHA:99829
Leprechaunism	Enlarged kidney, Hepatomegaly, Clitoral hypertrophy, Long penis, Hypercalciuria, Hypertrophic car...	ORPHA:508
Crane-Heise Syndrome	Low-set, posteriorly rotated ears, Hypoplasia of penis, Anteverted nares, Hypoplastic scapulae, M...	ORPHA:1512
American Trypanosomiasis	Myocarditis, Congestive heart failure, Hepatomegaly, Lymphadenopathy, Cardiomyopathy, Splenomegal...	ORPHA:3386
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Hypocalcemia, Optic atrophy	OMIM:618476
Combined Oxidative Phosphorylation Deficiency 59	Congestive heart failure, Dicarboxylic aciduria, Cholelithiasis, Hypertrophic cardiomyopathy, Vom...	OMIM:620646
Congenital Tricuspid Valve Dysplasia	Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram...	ORPHA:555874
Severe Generalized Junctional Epidermolysis Bullosa	Renal tubular epithelial necrosis, Anemia, Hydroureter, Duplicated collecting system, Bradycardia...	ORPHA:79404
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of	Enlargement of parotid gland	OMIM:600343
Primary Myelofibrosis	Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Leukocytosis, Portal hyperte...	ORPHA:824
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Tricuspid regurgitation, Hypertrophic cardiomyopathy, Pulmonary arterial...	OMIM:619051
Ciliary Dyskinesia, Primary, 15	Chronic sinusitis, Recurrent otitis media, Nasal polyposis, Abnormal axonemal organization of res...	OMIM:613808
Shwachman-Diamond Syndrome 1	Narrow greater sciatic notch, Steatorrhea, Enlargement of the costochondral junction, Metaphyseal...	OMIM:260400
Small Cell Carcinoma Of The Bladder	Hypercalcemia	ORPHA:284400
Uruguay Faciocardiomusculoskeletal Syndrome	Left atrial enlargement, Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Le...	OMIM:300280
Arterial Tortuosity Syndrome	Congenital diaphragmatic hernia, Joint hypermobility, Scoliosis, High palate, Macrotia, Micrognat...	OMIM:208050
Nestor-Guillermo Progeria Syndrome	Limited elbow movement, Thin vermilion border, Progressive clavicular acroosteolysis, Dental crow...	OMIM:614008
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated...	OMIM:609945
Bile Acid Synthesis Defect, Congenital, 5	Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Portal hypertension, Splenomegal...	OMIM:616278
Silver-Russell Syndrome 1	Decreased response to growth hormone stimulation test, Hypospadias, Testicular seminoma, Short mi...	OMIM:180860
Hereditary Hemorrhagic Telangiectasia	Tongue telangiectasia, Spontaneous hematomas, Gastrointestinal hemorrhage, Intestinal polyposis, ...	ORPHA:774
Bacterial Toxic-Shock Syndrome	Increased circulating metamyelocyte count, Hypocalcemia, Increased circulating myelocyte count, E...	ORPHA:36234
Hyperparathyroidism 2 With Jaw Tumors	Hypercalcemia, Pancreatic adenocarcinoma, Recurrent pancreatitis	OMIM:145001
Distal Deletion 3P	Abnormal vestibulo-ocular reflex, Thin vermilion border, Low-set, posteriorly rotated ears, Telec...	ORPHA:1620
15q26 overgrowth syndrome	Abnormality of the kidney, Polycystic kidney dysplasia, Sensorineural hearing impairment, Vesicou...	DECIPHER:81
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Hypospadias, Head-banging, Recurrent urinary tract infections, Vesicoureteral reflux, Low-set ear...	OMIM:619103
Hypocalciuric Hypercalcemia, Familial, Type I	Hypermagnesemia, Pancreatitis, Hypercalcemia	OMIM:145980
Pontocerebellar Hypoplasia Type 7	Optic atrophy, Hypertonia, Fasciculations, Spasticity, High palate, Upslanted palpebral fissure, ...	ORPHA:284339
Waardenburg Syndrome	Hearing impairment, Conductive hearing impairment, Aganglionic megacolon	ORPHA:3440
Fructose-1,6-Bisphosphatase Deficiency	Increased urinary glycerol, Dyspnea, Apnea, Tachycardia, Lethargy, Hyperventilation	OMIM:229700
Immunodeficiency, Common Variable, 1	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt...	OMIM:607594
Garg-Mishra Progeroid Syndrome	Narrow chest, Slender long bone, Dental crowding, Thin ribs, Persistent open anterior fontanelle,...	OMIM:620601
Fryns Syndrome	Ureteral duplication, Meckel diverticulum, Intestinal malrotation, Wide mouth, Long philtrum, Sho...	OMIM:229850
Cerebrocostomandibular Syndrome	Tracheomalacia, Short hard palate, Meningocele, Hydranencephaly, Glossoptosis, Kyphosis, Death in...	ORPHA:1393
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Sensorineural hearing impairment, Abnormal pinna morphology, Broad alveolar ridges, Spastic tetra...	OMIM:616975
Osteogenesis Imperfecta, Type Viii	Osteopenia, Barrel-shaped chest, Slender long bone, Femoral retroversion, Thin ribs, Tibial bowin...	OMIM:610915
19P13.12 Microdeletion Syndrome	Sensorineural hearing impairment, Abnormal pinna morphology, Conductive hearing impairment, Low-s...	ORPHA:254346
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Mixed hearing impairment, Sensorineural hearing impairment, Dental crowding, Nephrocalcinosis, Bi...	OMIM:300990
Obesity, Hyperphagia, And Developmental Delay	Obesity, Polyphagia, Motor stereotypy	OMIM:613886
Weill-Marchesani Syndrome 2	Narrow palate, Flexion contracture of toe, Tooth malposition, Scoliosis, Elbow flexion contractur...	OMIM:608328
Lethal Faciocardiomelic Dysplasia	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Radial club hand, Sandal ga...	ORPHA:1972
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Hepatomegaly, Mediastinal lymphadenopathy, Hematuria, Glomerulopathy...	ORPHA:91138
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Abnormality of the humeroulnar joint, Abnormal rib morphology	ORPHA:2234
Primary Progressive Freezing Gait	Bradykinesia, Babinski sign, Urinary incontinence, Hypertension, Frequent falls, Clonus, Rigidity...	ORPHA:75567
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Short nose, Hypospadias, Cleft soft palate, Highly arched eyebrow, Anteverted nares, Microtia, Pu...	ORPHA:2282
Galloway-Mowat Syndrome 6	Decreased body weight, Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Motor...	OMIM:618347
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Sinus bradycardia, Ventricular septal defect	OMIM:126320
Distal Deletion 19P	Sensorineural hearing impairment, Conductive hearing impairment, Low-set, posteriorly rotated ears	ORPHA:96129
Scarf Syndrome	Joint hypermobility, Pectus carinatum, Diastasis recti, Enamel hypoplasia, Short sternum, Long ph...	ORPHA:3134
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies	Oromandibular dystonia, Aggressive behavior, Recurrent urinary tract infections, Microtia, Tremor...	OMIM:620494
Follicular Lymphoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:545
White-Sutton Syndrome	Congenital diaphragmatic hernia, Midface retrusion, Short philtrum, Facial hypotonia, Sensorineur...	ORPHA:468678
Proteus-Like Syndrome	Genu recurvatum, Anteverted nares, Mandibular prognathia, Open bite, Hydrocephalus, Communicating...	ORPHA:2969
Craniofacioskeletal Syndrome	Short palpebral fissure, Hypospadias, Short philtrum, Blepharophimosis, Microtia, Choanal atresia...	OMIM:300712
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Pectus carinatum, Triangular shaped distal phalanges of the hand, Short ribs, Short long bone, Sh...	OMIM:271665
Cholera	Abnormal blood ion concentration, Hyponatremia, Hypokalemia, Hypocalcemia	ORPHA:173
Mucopolysaccharidosis, Type Vii	Narrow greater sciatic notch, Genu valgum, Widely spaced teeth, Spatulate ribs, Thoracolumbar kyp...	OMIM:253220
Feingold Syndrome 1	Everted lower lip vermilion, Tracheoesophageal fistula, Accessory spleen, Anteverted nares, Depre...	OMIM:164280
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Agitation, Recurrent otitis media, Low-set ears, Stereotypical hand wringing, Impulsivity, Hearin...	OMIM:619950
Meckel Syndrome, Type 1	Occipital encephalocele, Anencephaly, Intestinal malrotation, Wide mouth, Splenomegaly, Cystic re...	OMIM:249000
Osteopetrosis With Renal Tubular Acidosis	Optic atrophy, Hepatomegaly, Anemia, Pancytopenia, Hypocalcemia, Retinal atrophy, Elevated circul...	ORPHA:2785
Isolated Exencephaly	Abnormal facial skeleton morphology, Maternal diabetes, Anterior pituitary hypoplasia, Hypoplasia...	ORPHA:563612
Diarrhea 10, Protein-Losing Enteropathy Type	Hypertriglyceridemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypoalbuminemia	OMIM:618183
Bartsocas-Papas Syndrome 1	Ectopic kidney, Microtia, Axillary pterygium, Pterygium, Cleft palate, Micropenis, Cupped ear, An...	OMIM:263650
Leydig Cell Hypoplasia	Testicular gonadoblastoma, Hypospadias, Abnormal vas deferens morphology, Hypoplasia of the Leydi...	ORPHA:755
Pseudoaminopterin Syndrome	Limited elbow movement, Microdontia, Hypoplasia of the antihelix, Sacrococcygeal pilonidal abnorm...	ORPHA:221120
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Long nose, Abnormal circulating calcium-phosphate regulating hormone concentration, Retrognathia,...	ORPHA:2636
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Lymphadenopathy, Azoospermia, Pancreatic hypoplasia, Pulmonary arterial hypertensio...	OMIM:602782
Long Qt Syndrome 3	Torsade de pointes, Prolonged QTc interval, Ventricular flutter, Ventricular fibrillation, Syncop...	OMIM:603830
Blue Diaper Syndrome	Hyperphosphatemia, Hypercalcemia	ORPHA:94086
Erythrocytosis, Familial, 8	Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo...	OMIM:222800
Congenital Myopathy 11	Apneic episodes in infancy, Weakness of facial musculature	OMIM:619967
Rett Syndrome	Bradykinesia, Limb apraxia, Abnormal autonomic nervous system physiology, Skeletal muscle atrophy...	ORPHA:778
Amyotrophic Lateral Sclerosis	Progressive spinal muscular atrophy, Progressive distal muscular atrophy, Upper limb muscle weakn...	ORPHA:803
Acrofacial Dysostosis, Cincinnati Type	Midface retrusion, Retrognathia, Tracheobronchomalacia, Microtia, Median pseudocleft lip, Cranios...	OMIM:616462
Ciliary Dyskinesia, Primary, 22	Recurrent otitis media, Nasal polyposis, Rhinitis, Recurrent sinusitis, Absent inner and outer dy...	OMIM:615444
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Optic nerve hypoplasia, Long philtrum, Hypospadias, Anteverted nares, Broad nasal tip, Keratoconj...	ORPHA:495875
Halperin-Birk Syndrome	Congenital diaphragmatic hernia, Semilobar holoprosencephaly, Death in childhood, High palate, He...	OMIM:618651
Kniest Dysplasia	Conductive hearing impairment, Recurrent otitis media	OMIM:156550
Leishmaniasis	Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Abnormal macrophage morphology, Leukopenia, ...	ORPHA:507
Scalp-Ear-Nipple Syndrome	Abnormality of the kidney, Palpebral edema, Ureteral duplication, Telecanthus, Delayed eruption o...	ORPHA:2036
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp...	OMIM:619849
Mend Syndrome	Hypertonia, Hydrocephalus, Low-set ears, High palate, Bulbous nose, Aortic valve stenosis, Microg...	OMIM:300960
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope...	ORPHA:231154
Brown-Vialetto-Van Laere Syndrome 1	Death in childhood, Tongue fasciculations, Facial palsy, Hand muscle atrophy, Skeletal muscle atr...	OMIM:211530
Acquired Hypertrichosis Lanuginosa	Glossitis, Macroglossia	ORPHA:2221
Van Der Woude Syndrome	Abnormal salivary gland morphology, Cleft upper lip, Cleft palate, Hypodontia, Lower lip pit, Lip...	ORPHA:888
Restrictive Dermopathy 1	Ureteral duplication, Narrow nasal ridge, Temporomandibular joint ankylosis, Entropion, Hypospadi...	OMIM:275210
Lissencephaly Syndrome, Norman-Roberts Type	Hypoplastic spleen, Abnormal retinal morphology	ORPHA:89844
Dyskeratosis Congenita	Neoplasm of the pancreas, Tracheoesophageal fistula, Bone marrow hypocellularity, Splenomegaly, U...	ORPHA:1775
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Sensorineural hearing impairment, Microtia, Hypoplastic philtrum, Lower limb hypertonia, Wide mou...	OMIM:309580
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Perimembranous ventricular septal defect	OMIM:619170
Behavioral Variant Of Frontotemporal Dementia	Inappropriate behavior, Restrictive behavior, Collectionism, Disinhibition, Restlessness, Motor s...	ORPHA:275864
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Recurrent urinary tract infections, S...	OMIM:618495
Leukodystrophy, Hypomyelinating, 13	Optic atrophy, Delayed brainstem auditory evoked response conduction time	OMIM:616881
Ciliary Dyskinesia, Primary, 5	Recurrent sinusitis, Nasal polyposis, Recurrent otitis media, Chronic rhinitis	OMIM:608647
46,Xy Sex Reversal 11	Abnormal internal genitalia, Urogenital sinus anomaly, Aplasia of the uterus, Vanishing testis, G...	OMIM:273250
Familial Osteodysplasia, Anderson Type	Aplasia/hypoplasia of the femur, Clinodactyly of the 5th finger, Abnormal cortical bone morpholog...	ORPHA:2769
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Hypospadias, Glomerular sclerosis, Head tremor, Nephrotic syndrome, Ataxia, Proteinuria, Motor st...	OMIM:619428
Oncogenic Osteomalacia	Hypocalcemia, Hypophosphatemia	ORPHA:352540
Tolchin-Le Caignec Syndrome	Short palpebral fissure, Hooded eyelid, Sensorineural hearing impairment, Abnormal vestibular fun...	OMIM:618971
Alkaptonuria	Limitation of knee mobility, Decreased glomerular filtration rate, Intervertebral disk degenerati...	OMIM:203500
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis	Posterior fusion of lumbosacral vertebrae	OMIM:192800
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Lateral clavicle hook, Disproportionate shortening of the tibia, Postaxial polysyndactyly of foot...	OMIM:263520
Choreoacanthocytosis	Chorea, Abnormal erythrocyte enzyme concentration or activity, Abnormal autonomic nervous system ...	ORPHA:2388
Distal Deletion 15Q	Congenital diaphragmatic hernia, Generalized joint hypermobility, Genu valgum, Hypospadias, Short...	ORPHA:1596
Spinocerebellar Ataxia Type 36	Tongue fasciculations, Skeletal muscle atrophy, Tongue atrophy	ORPHA:276198
Orofaciodigital Syndrome Type 4	Retrognathia, Renal hypoplasia/aplasia, Abnormal oral frenulum morphology, Bifid uvula, Abnormali...	ORPHA:2753
Burning Mouth Syndrome	Smooth tongue, Tongue pain, Abnormality of taste sensation, Parageusia, Strawberry tongue, Abnorm...	ORPHA:353253
Down Syndrome	Delayed puberty, Round ear, Microdontia, Delayed skeletal maturation, Umbilical hernia, Joint hyp...	ORPHA:870
Maternal Phenylketonuria	Bilateral ptosis, Hypoplastic helices, Deviated nasal septum, Esophageal atresia, Anteverted nare...	ORPHA:2209
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia	Delayed puberty, Small pituitary gland, Hyposmia, Sensorineural hearing impairment, Anosmia, Cryp...	OMIM:612702
Laryngotracheal Angioma	Vomiting, Apnea, Intercostal retractions, Respiratory distress	ORPHA:137935
Amed Syndrome, Digenic	Anemia, Acute myeloid leukemia, Bone marrow hypocellularity, Thrombocytopenia, Leukopenia, Hypopl...	OMIM:619151
Chondrodysplasia Punctata, Autosomal Dominant	Epiphyseal stippling, Scoliosis, Hip contracture, Knee flexion contracture, Hypoplasia of the nas...	OMIM:118650
Pyruvate Dehydrogenase E2 Deficiency	Jerky head movements, Paroxysmal dystonia, Dystonia, Ataxia, Generalized dystonia, Choreoathetosis	OMIM:245348
Kabuki Syndrome 1	Bilateral ptosis, Highly arched eyebrow, Premature thelarche, Intestinal malrotation, Short 5th f...	OMIM:147920
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Hydroureter, Rectovaginal fistula, Wide nose, Valvular pulmonary stenosis, Pelvic kidney, Telecan...	OMIM:300707
Indolent Systemic Mastocytosis	Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Mastocytosis, Splenomega...	ORPHA:98848
Microphthalmia, Lenz Type	Orofacial cleft, Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Low-set, posteriorly rotated...	ORPHA:568
Lymphoproliferative Syndrome 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Ascites, Hepatosp...	OMIM:615122
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hypercalcemia	OMIM:239199
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Narrow greater sciatic notch, Lateral clavicle hook, Fibular hypoplasia, Preaxial polydactyly, Na...	OMIM:617925
Pick Disease Of Brain	Inappropriate laughter, Disinhibition, Polyphagia, Motor stereotypy	OMIM:172700
Coffin-Siris Syndrome 12	Highly arched eyebrow, Sensorineural hearing impairment, Noncommunicating hydrocephalus, Heart mu...	OMIM:619325
Gm1 Gangliosidosis Type 1	Long philtrum, Spatulate ribs, Broad long bone diaphyses, Gingival overgrowth, Short long bone, P...	ORPHA:79255
Combined Oxidative Phosphorylation Deficiency 12	Bradykinesia, Babinski sign, Ragged-red muscle fibers, Spastic tetraparesis, Ptosis, Cleft palate	OMIM:614924
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Impaired pain sensation, Low-set ears, Gait ataxia, Motor stereotypy, Overfriendliness	OMIM:616579
Gaucher Disease, Type Ii	Hypertonia, Anemia, Gastroesophageal reflux, Oculomotor apraxia, Spasticity, Death in infancy, Ri...	OMIM:230900
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Unilateral renal agenesis, Polycystic kidney dysplasia, Vesicoureteral reflux, Aplasia of the ute...	ORPHA:2237
Rothmund-Thomson Syndrome, Type 2	Microdontia, Agenesis of permanent teeth, Hypogonadism, Telangiectasia, Absent eyelashes, Cryptor...	OMIM:268400
Late-Infantile/Juvenile Krabbe Disease	Abnormality of visual evoked potentials, EEG with persistent abnormal rhythmic activity, Delayed ...	ORPHA:206443
Intellectual Developmental Disorder, Autosomal Dominant 34	Hearing impairment, Bruxism, Motor stereotypy	OMIM:616351
Alagille Syndrome 1	Duplicated collecting system, Renal tubular acidosis, Vesicoureteral reflux, Low-set ears, Renal ...	OMIM:118450
Focal Dermal Hypoplasia	Congenital diaphragmatic hernia, Narrow nasal bridge, Abnormal dental enamel morphology, Scoliosi...	ORPHA:2092
Leukocyte Adhesion Deficiency Type Ii	Severe periodontitis, Small earlobe, Microtia, Lower limb hypertonia, Umbilical hernia, Narrow pa...	ORPHA:99843
Granulomatosis With Polyangiitis	Chronic otitis media, Oral ulcer, Granulomatosis, Localized pulmonary hemorrhage, Retinal hemorrh...	OMIM:608710
Digeorge Syndrome	Bifid uvula, Ovarian cyst, Recurrent sinusitis, Splenomegaly, Abnormal thymus morphology, Short p...	OMIM:188400
Monosomy 9Q22.3	Polydactyly, Orofacial cleft, Rhabdomyosarcoma, Joint hypermobility, Delayed eruption of teeth, O...	ORPHA:77301
Illum Syndrome	Bradycardia	OMIM:208155
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Disinhibition, Dysphagia, Motor stereotypy	OMIM:612069
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Mixed hearing impairment, Sensorineural hearing impairment, Low-set ears, Optic disc coloboma, Lo...	OMIM:300472
Lymphangiectasia, Pulmonary, Congenital	Palpebral edema, Facial edema, Polyhydramnios, Chylothorax, Lymphedema, Pleural effusion, Ascites...	OMIM:265300
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l...	ORPHA:98849
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Vesic...	OMIM:617394
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypermagnesemia, Pancreatitis, Hypercalcemia	OMIM:145981
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Hypospadias, Bilateral cleft palate, Bifid nasal tip, High palate, Ankyloglossia, Enamel hypoplas...	OMIM:618874
Aymé-Gripp Syndrome	Congenital diaphragmatic hernia, Sensorineural hearing impairment, Microtia, Long philtrum, Crani...	ORPHA:1272
Cockayne Syndrome	Optic atrophy, Decreased nerve conduction velocity, Urinary incontinence, Unilateral renal agenes...	ORPHA:191
Manganese Poisoning	Bradykinesia, Hypertonia, Abnormality of extrapyramidal motor function, Cogwheel rigidity, Postur...	ORPHA:306682
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Neonatal cholestatic liver disease, Splenomegaly	OMIM:214900
Kagami-Ogata Syndrome	Bell-shaped thorax, Diastasis recti, Limitation of joint mobility, Coat hanger sign of ribs, Thor...	ORPHA:254519
Ring Chromosome 13 Syndrome	Aplasia/hypoplasia involving bones of the hand, Hypoplasia of the gallbladder, Anencephaly, Prima...	ORPHA:96176
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Frequent temper tantrums, Impulsivity, Hydronephrosis, Motor stereotypy, Attention...	OMIM:620141
Aorta Coarctation	Congestive heart failure, Perimembranous ventricular septal defect, Cardiomegaly, Aortic valve at...	ORPHA:1457
Poirier-Bienvenu Neurodevelopmental Syndrome	Mandibular prognathia, Protruding tongue, Downturned corners of mouth, Open mouth, Smooth philtrum	OMIM:618732
9q subtelomeric deletion syndrome	Midface retrusion, Short nose, Anteverted nares, Protruding tongue	DECIPHER:52
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Ureteral duplication, Hypertension, Pancreatic cysts, Short ribs, Microdontia, Bifid uvula, Wide ...	OMIM:266920
Thymic Neuroendocrine Tumor	Mediastinal lymphadenopathy, Pancreatic islet cell adenoma, Neoplasm of the thymus, Chronic nonin...	ORPHA:97289
Telangiectasia, Hereditary Hemorrhagic, Type 1	Tongue telangiectasia, Hematemesis, Nail bed telangiectasia, Exertional dyspnea, Gastrointestinal...	OMIM:187300
Saethre-Chotzen Syndrome	Narrow palate, Long nose, Lambdoidal craniosynostosis, Microtia, Delayed cranial suture closure, ...	OMIM:101400
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Prolonged prothrombin time, Bradykinesia, Hypertonia, Hypomimic face, Truncal ataxia, Poor fine m...	ORPHA:309854
46,Xy Sex Reversal 3	Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la...	OMIM:612965
Smith-Lemli-Opitz Syndrome	Recurrent otitis media, Aganglionic megacolon, Hypospadias, Penoscrotal hypospadias, Unilateral r...	OMIM:270400
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,...	OMIM:616689
Celiac Disease, Susceptibility To, 1	Hypocalcemia, Thrombocytosis, Iron deficiency anemia, Macrocytic anemia	OMIM:212750
Combined Oxidative Phosphorylation Defect Type 39	Cryptorchidism, Bradycardia	ORPHA:565624
Thrombocythemia 1	Thrombocytosis, Splenomegaly	OMIM:187950
Igg4-Related Thyroid Disease	Euthyroid goiter, Sialadenitis, Thyroiditis, Abnormality of the ocular adnexa, Abnormal pituitary...	ORPHA:64744
Blomstrand Lethal Chondrodysplasia	Short nose, Platyspondyly, Increased bone mineral density, Anteverted nares, Low-set ears, Synost...	ORPHA:50945
Stickler Syndrome, Type I	Sensorineural hearing impairment, Conductive hearing impairment	OMIM:108300
Mucopolysaccharidosis, Type Vi	Genu valgum, Delayed eruption of teeth, Hypoplastic iliac wing, Hypoplastic acetabulae, Pectus ca...	OMIM:253200
Ring Chromosome 22 Syndrome	Midface retrusion, Wide nasal base, Protruding tongue, Full cheeks, Macrotia, Thick vermilion bor...	ORPHA:1446
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hypocalcemia, Hepatic calcification, Hypomagnesemia, Hypocalcemic tetany	ORPHA:73224
Fibrous Dysplasia Of Bone	Abnormal clavicle morphology, Rickets, Abnormal femur morphology, Abnormal tibia morphology, Oste...	ORPHA:249
Griscelli Syndrome Type 2	Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Splenomegaly, Neutropenia	ORPHA:79477
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Short nose, Everted upper lip vermilion, Conical tooth, Underdeveloped nasal alae, Hypoplastic ni...	OMIM:305100
Fontaine Progeroid Syndrome	Midface retrusion, Retrognathia, Everted lower lip vermilion, Microdontia, Death in infancy, Dela...	OMIM:612289
Faundes-Banka Syndrome	Delayed puberty, Flexion contracture of toe, Microtia, Hypoplasia of the lower eyelids, Premature...	OMIM:619376
Coach Syndrome 1	Cirrhosis, Hepatomegaly, Nephronophthisis, Unilateral renal agenesis, Abnormal abdomen morphology...	OMIM:216360
Congenital Myopathy 22A, Classic	Tricuspid regurgitation, Bradycardia	OMIM:620351
Immunodeficiency 7	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neut...	OMIM:615387
Kleefstra Syndrome Due To 9Q34 Microdeletion	Midface retrusion, Short nose, Hypoplasia of penis, Anteverted nares, Vesicoureteral reflux, Ever...	ORPHA:96147
Long-Olsen-Distelmaier Syndrome	Congestive heart failure, Secundum atrial septal defect, Severely reduced left ventricular ejecti...	OMIM:620609
Juvenile Nephropathic Cystinosis	Hypokalemia, Hypocalcemia, Hypouricemia, Hyponatremia, Hypophosphatemia, Hypocalcemic tetany, Ele...	ORPHA:411634
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Cervical ribs, Thin vermilion border, Hyperextensible hand joints, Short philtrum, Slender long b...	ORPHA:500150
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Ileal atresia, Intestinal obstruction, Autoimmune hemolytic anemia, Death in childhood, Impaired ...	OMIM:243150
Smith-Lemli-Opitz Syndrome	Congenital diaphragmatic hernia, Hypoplasia of penis, Abnormal form of the vertebral bodies, Sens...	ORPHA:818
Congenital Disorder Of Glycosylation, Type Im	Dilated cardiomyopathy, Bradycardia	OMIM:610768
Parkinson Disease 2, Autosomal Recessive Juvenile	Pill-rolling tremor, Babinski sign, Bradykinesia, Resting tremor, Tremor, Cogwheel rigidity, Gait...	OMIM:600116
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Pancreatitis, Angina pectoris, Vacuolated lymphocytes, Low-output congestive heart ...	ORPHA:565612
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Purpura, Acute myeloid leukemia, Abnormal dense granule content, Petechiae, Abnormal platelet sha...	OMIM:601399
Developmental Delay, Hypotonia, And Impaired Language	Mixed hearing impairment	OMIM:620012
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Proximal upper limb amyotrophy, Proximal muscle weakness in upper limbs, Distal lower limb muscle...	ORPHA:466768
Ogden Syndrome	Macrotia, Low-set ears, Torticollis, Abnormal head movements	ORPHA:276432
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Congenital diaphragmatic hernia, Retrognathia, Midface retrusion, Solitary median maxillary centr...	OMIM:301044
Branchio-Oculo-Facial Syndrome	Conductive hearing impairment, Abnormal pinna morphology, Low-set, posteriorly rotated ears	ORPHA:1297
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	First degree atrioventricular block, Right ventricular dilatation, Ventricular tachycardia, Left ...	OMIM:615616
X-Linked Intellectual Disability, Armfield Type	Long ear, Galactosuria, Short philtrum, Mandibular prognathia, Organic aciduria, Short foot, Macr...	ORPHA:85276
Kufor-Rakeb Syndrome	Bradykinesia, Babinski sign, Hypertonia, Urinary incontinence, Hypomimic face, Blepharospasm, Myo...	ORPHA:306674
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Rocker bottom foot, Clinodactyly of the 5th finger, Congenital bilateral hip dislocation, Pectus ...	ORPHA:488642
Immunodeficiency 32B	Hepatomegaly, Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Eosinophilia, ...	OMIM:226990
Gabriele-De Vries Syndrome	Breast hypoplasia, Decreased response to growth hormone stimulation test, Oral-pharyngeal dysphag...	ORPHA:506358
Chromosome 18Q Deletion Syndrome	Optic atrophy, Sensorineural hearing impairment, Stenosis of the external auditory canal, Hearing...	OMIM:601808
Neurodegeneration With Brain Iron Accumulation 2B	Optic atrophy, Babinski sign, Hypertonia, Bradykinesia, Chorea, Spasticity, Dysdiadochokinesis, G...	OMIM:610217
Hydroxykynureninuria	Congenital sensorineural hearing impairment, Motor stereotypy, Renal tubular acidosis	ORPHA:79155
Blau Syndrome	Large vessel vasculitis, Abnormal salivary gland morphology, Anemia, Lymphadenopathy, Abnormal cr...	ORPHA:90340
Agammaglobulinemia 8B, Autosomal Recessive	Anemia, Pancytopenia, B lymphocytopenia, Increased proportion of effector memory CD8-positive, al...	OMIM:619824
Diamond-Blackfan Anemia	Abnormality of the thenar eminence, Normochromic anemia, Microtia, Macrocytic dyserythropoietic a...	ORPHA:124
Igg4-Related Retroperitoneal Fibrosis	Anorexia, Acute kidney injury, Renal tubular epithelial necrosis, Hematuria, Dysuria, Nephrotic s...	ORPHA:49041
2Q23.1 Microdeletion Syndrome	Hypoplasia of penis, Hyperactivity, Polyphagia, Ataxia, Motor stereotypy, Self-injurious behavior...	ORPHA:228402
Iniencephaly	Congenital diaphragmatic hernia, Orofacial cleft, Anencephaly, Encephalocele, Hydrocephalus, Hype...	ORPHA:63259
Cold Agglutinin Disease	Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormal urinary color, Hemolytic anemia	ORPHA:56425
Hennekam-Beemer Syndrome	Hearing impairment, Conductive hearing impairment, Microtia, Optic atrophy	ORPHA:2135
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Left ventricular outflow tract obstruction, Low-output congestive heart failure, Hy...	ORPHA:308552
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Retrognathia, Abnormality of the endocrine system, Pulmonic stenosis, Dysphagia, Myoclonus, Nephr...	ORPHA:438213
Degcags Syndrome	Abnormal renal medulla morphology, Unilateral conductive hearing impairment, Hypospadias, Oral-ph...	OMIM:619488
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Tracheomalacia, Anteverted nares, Gingival overgrowth, Vesicoureteral reflux, Low-set ears, Protr...	OMIM:618797
Blepharophimosis-Impaired Intellectual Development Syndrome	Hypospadias, Recurrent urinary tract infections, Low-set ears, Enuresis, Posteriorly rotated ears...	OMIM:619293
Cranioectodermal Dysplasia 2	Retrognathia, Hypertension, Short ribs, Everted lower lip vermilion, Microdontia, Mesomelia, Sple...	OMIM:613610
Mandibuloacral Dysplasia Progeroid Syndrome	Sandal gap, Pectus excavatum, Joint stiffness, Left ventricular hypertrophy, Long philtrum, Short...	OMIM:619127
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Congestive heart failure, Aortic regurgitation, Cardiomegaly, Tricuspid regurgitation, Premature ...	OMIM:620066
Lipoid Proteinosis	Thick lower lip vermilion, High palate, Nasal polyposis, Abnormality of the gingiva, Abnormal ora...	ORPHA:530
Penoscrotal Transposition	Penoscrotal transposition, Hypospadias, Cardiomyopathy, Abnormality of the ureter, Renal agenesis...	ORPHA:2842
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Nephronophthisis, Cholestasis, Splenomegaly, Chronic kidney disease, Hepatic fibros...	OMIM:615630
Snijders Blok-Campeau Syndrome	Attention deficit hyperactivity disorder, Low-set ears, Motor stereotypy	OMIM:618205
Hypocomplementemic Urticarial Vasculitis	Small vessel vasculitis, Glomerulopathy, Hepatomegaly, Hematuria, Lymphadenopathy, Abnormal heart...	ORPHA:36412
Melkersson-Rosenthal Syndrome	Cheilitis, Macroglossia, Facial palsy, Furrowed tongue	ORPHA:2483
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Optic atrophy, Renal steatosis, Apnea, Ketonuria	OMIM:261680
Adams-Oliver Syndrome 5	Patent foramen ovale, Pulmonary arterial hypertension, Right atrial enlargement, Portal vein thro...	OMIM:616028
Osteogenesis Imperfecta, Type Vii	Osteopenia, Long philtrum, Crumpled long bones, Narrow chest, Femoral retroversion, Recurrent fra...	OMIM:610682
Pheochromocytoma--Islet Cell Tumor Syndrome	Hypertensive retinopathy, Hypercalcemia	OMIM:171420
Ritscher-Schinzel Syndrome 2	Short philtrum, Wide anterior fontanel, Scoliosis, High palate, Camptodactyly, Protruding tongue,...	OMIM:300963
Hyperglycinemia, Lactic Acidosis, And Seizures	Hypertrophic cardiomyopathy, Joint contracture, Apnea, Myoclonus, Spastic tetraplegia	OMIM:614462
Peroxisome Biogenesis Disorder 4B	Optic atrophy, Short nose, Decreased nerve conduction velocity, Sensorineural hearing impairment,...	OMIM:614863
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Low-set ears, Mixed hearing impairment, Thickened helices, Overfolded helix	OMIM:608624
Thrombocytopenia 6	Abnormal bleeding, Thrombocytopenia, Spontaneous, recurrent epistaxis	OMIM:616937
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Long nose, Retrognathia, Neoplasm of the tongue, Thyroid hypoplasia, Bifid uvula, Posteriorly rot...	ORPHA:3047
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hepatomegaly, Anemia, Hypercalcemia, Splenomegaly, Hypophosphatemia	OMIM:239200
Kindler Epidermolysis Bullosa	Short 4th metacarpal, Cheilitis, Periodontitis, Finger syndactyly, Abnormal dental enamel morphol...	ORPHA:2908
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures	Attention deficit hyperactivity disorder, Spastic ataxia, Motor stereotypy	OMIM:618906
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Thrombocytopenia, Abnormality of the spleen, Splenomegaly, Intracrani...	ORPHA:85212
Cantú Syndrome	Abnormal metaphysis morphology, Long philtrum, Narrow chest, Short hallux, Finger syndactyly, Ost...	ORPHA:1517
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly	ORPHA:158029
Bilateral Generalized Polymicrogyria	Oculogyric crisis, Oral-pharyngeal dysphagia, Dystonia, Motor stereotypy, Self-injurious behavior	ORPHA:208447
Pseudohypoparathyroidism Type 1C	Calcinosis, Hypocalcemic seizures, Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia	ORPHA:79444
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Abnormal sternum morphology, Short ribs, Postaxial hand polydactyly, Abnormal rib morphology, Bro...	ORPHA:2519
Intellectual Developmental Disorder, Autosomal Dominant 38	Hair-pulling, Low-set ears, Ataxia, Motor stereotypy, Self-injurious behavior, Bruxism, Aggressiv...	OMIM:616393
Sotos Syndrome	Low-set ears, Macrotia, Conductive hearing impairment, Posteriorly rotated ears, Otitis media	OMIM:117550
Autosomal Recessive Faciodigitogenital Syndrome	Short nose, Telecanthus, Anteverted nares, Open bite, High palate, Everted lower lip vermilion, S...	ORPHA:1974
Spondylometaphyseal Dysplasia, Algerian Type	Short tubular bones of the hand, Carpal bone hypoplasia, Flared femoral metaphysis, Genu valgum, ...	OMIM:184253
Distal 22Q11.2 Microdeletion Syndrome	High, narrow palate, Abnormal earlobe morphology, Sensorineural hearing impairment, Hyperlordosis...	ORPHA:261330
46,Xx Ovotesticular Difference Of Sex Development	Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r...	ORPHA:2138
Combined Pituitary Hormone Deficiencies, Genetic Forms	Delayed puberty, Absence of secondary sex characteristics, Decreased response to growth hormone s...	ORPHA:95494
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Type 1 muscle fiber atrophy, Type 2 muscle fiber predominance, Congenital contracture, Death in i...	OMIM:619036
Kleefstra Syndrome	Chronic otitis media, Hypospadias, Hypoplasia of penis, Renal insufficiency, Vesicoureteral reflu...	ORPHA:261494
Mucopolysaccharidosis, Type Iiid	Thick lower lip vermilion, Broad alveolar ridges, Elbow flexion contracture, Epiphyseal dysplasia...	OMIM:252940
Transketolase Deficiency	Increased level of ribose in urine, Compulsive behaviors, Renal cyst, Hearing impairment, Motor s...	ORPHA:488618
Parkinson Disease 1, Autosomal Dominant	Bradykinesia, Resting tremor, Urinary urgency, Rigidity, Dysphagia, Parkinsonism, Myoclonus	OMIM:168601
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Splenomegaly	ORPHA:664
Simpson-Golabi-Behmel Syndrome, Type 1	Enlarged kidney, Hepatomegaly, Transposition of the great arteries, Hypospadias, Cardiomyopathy, ...	OMIM:312870
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia	Anteverted nares, Ectopic anterior pituitary gland, Choanal stenosis, Pachygyria, Patent ductus a...	OMIM:620558
Cholesteryl Ester Storage Disease	Cirrhosis, Hepatomegaly, Anemia, Periportal fibrosis, Bone-marrow foam cells, Portal hypertension...	OMIM:278000
Weill-Marchesani Syndrome 1	Narrow palate, Tooth malposition, Scoliosis, Hypoplasia of the maxilla, Abnormal dental morpholog...	OMIM:277600
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features	Long nose, Retrognathia, Narrow mouth, High palate, Low-set ears, Synophrys, Micrognathia, Cleft ...	OMIM:301091
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Lateral clavicle hook, Fibular hypoplasia, Irregular epiphyses, Early oss...	OMIM:208500
Huntington Disease-Like 3	Urinary incontinence, Chorea, Dystonia, Progressive gait ataxia, Abnormal head movements	ORPHA:157946
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Syncope, Palpitations, Sinus bradycardia, Second degree atrioventricular block	OMIM:616812
Absence Of The Pulmonary Artery	Congestive heart failure, Atrial flutter, Cardiomegaly, Reduced left ventricular ejection fractio...	ORPHA:980
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Microtia, Microdontia, Lymphopenia, Accessory spleen, Portal hypertension, Depressed nasal tip, P...	OMIM:620005
Macrocephaly-Developmental Delay Syndrome	Self-injurious behavior, Motor stereotypy, Abnormal speech discrimination	ORPHA:397612
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Hypercalcemia, Hyperphosphatemia, Angioid streaks of the fundus	OMIM:211900
Penile Agenesis	Hydroureter, Abnormality of the bladder, Bilateral renal agenesis, Absent penis, Hydronephrosis, ...	ORPHA:49
Bazex-Dupre-Christol Syndrome	Low hanging columella, Narrow nasal ridge, Furrowed tongue, Joint hypermobility, Underdeveloped n...	OMIM:301845
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Reduced left ventricular ejection fraction, Pollakisuria, Right bundle branch block, Right ventri...	ORPHA:268
Hallermann-Streiff Syndrome	Supernumerary tooth, High, narrow palate, Reduced bone mineral density, Tracheomalacia, Glossopto...	ORPHA:2108
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Posteriorly placed tongue, Aplasia/Hypoplasia of the distal phalanges of the toes, Submucous clef...	OMIM:192445
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome	High, narrow palate, Ureteral duplication, Mandibular prognathia, Hypothyroidism, Macrotia, Thick...	ORPHA:457212
Hypercalcemia, Infantile, 1	Hypercalcemia	OMIM:143880
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Vestibular areflexia, Absent brainstem auditory responses	ORPHA:3240
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Narrow chest, Flared metaphysis, Short ribs, Hypoplastic ilia, Anter...	ORPHA:2347
Hereditary Folate Malabsorption	Glossitis, Cheilitis, Skeletal muscle atrophy	ORPHA:90045
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia...	OMIM:235700
Joubert Syndrome 5	Occipital encephalocele, Nephronophthisis, Oculomotor apraxia, Renal cortical cysts, Impaired ren...	OMIM:610188
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Polycystic kidney dysplasia, Renal hypoplasia, Hypospadias, Renal cyst	OMIM:614091
Eosinophilic Granulomatosis With Polyangiitis	Intestinal obstruction, Hypertension, Sinusitis, Dysphagia, Myocarditis, Vasculitis, Transient is...	ORPHA:183
Tafro Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Ascites, Thrombocytopenia, Splenomegaly, Hep...	ORPHA:457077
Scrub Typhus	Myocarditis, Lymphadenopathy, Hypotension, Splenomegaly, Renal insufficiency	ORPHA:83317
Helsmoortel-Van Der Aa Syndrome	Enlarged kidney, Recurrent urinary tract infections, Enuresis nocturna, Abnormal heart morphology...	OMIM:615873
Carnitine-Acylcarnitine Translocase Deficiency	Dicarboxylic aciduria, Sudden episodic apnea, Cardiomyopathy, Hypotension, Rhabdomyolysis, Arrhyt...	ORPHA:159
Serkal Syndrome	Congenital diaphragmatic hernia, Orofacial cleft, Malrotation of small bowel	ORPHA:139466
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ...	OMIM:301078
Peters-Plus Syndrome	Bilobate gallbladder, Limited elbow movement, Ureteral duplication, Umbilical hernia, Long philtr...	OMIM:261540
ERI1-related disease	Macrotia, Conductive hearing impairment, Low-set ears	OMIM:608739
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly, Oligosacchariduria	ORPHA:3137
Sandhoff Disease	Hepatomegaly, Urinary incontinence, Orthostatic hypotension, Increased urinary N-acetylglucosamin...	OMIM:268800
Tick-Borne Encephalitis	Vertigo, Tongue fasciculations, Incoordination, Abnormal autonomic nervous system physiology, Leu...	ORPHA:297
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Jaundice, Hepatomegaly, Cholestasis, Portal hypertension, Splenomegaly	ORPHA:59303
Kapur-Toriello Syndrome	Conductive hearing impairment, Low-set ears	OMIM:244300
Peutz-Jeghers Syndrome	Rectal prolapse, Neoplasm of the pancreas, Oral melanotic macule, Iron deficiency anemia, Labial ...	OMIM:175200
Fraser Syndrome	Hypoplasia of penis, Dental crowding, Abnormal pinna morphology, Microtia, Myelomeningocele, Deat...	ORPHA:2052
Seckel Syndrome 9	Congenital diaphragmatic hernia, Convex nasal ridge, Micrognathia, Protruding ear	OMIM:616777
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Vasculitis in the skin, Hepatomegaly, Anemia, Splenomegaly	OMIM:620296
Non-Syndromic Posterior Hypospadias	Congenital diaphragmatic hernia, Cleft palate, Esophageal atresia, Anal atresia	ORPHA:95706
Ring Chromosome 21 Syndrome	Diabetes insipidus, Scoliosis, Holoprosencephaly, Thoracic hemivertebrae, Fused thoracic vertebrae	ORPHA:1445
Meckel Syndrome	Ureteral duplication, Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Accessory ...	ORPHA:564
Mungan Syndrome	Renal hypoplasia, Vesicoureteral reflux, Abnormality of the autonomic nervous system	OMIM:611376
Telangiectasia, Hereditary Hemorrhagic, Type 2	Tongue telangiectasia, Hematemesis, Nail bed telangiectasia, Spontaneous, recurrent epistaxis, Na...	OMIM:600376
Adult Krabbe Disease	Delayed brainstem auditory evoked response conduction time, EEG abnormality, Peripheral demyelina...	ORPHA:206448
Hypoadrenocorticism, Familial	Vomiting, Adrenal hypoplasia, Apnea, Adrenal insufficiency	OMIM:240200
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Rocker bottom foot, Proximal tibial and fibular fusion, Femoral bowing, Short metacarpal, Arachno...	ORPHA:95699
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Recurrent otitis media, Renal tubular acidosis, Head-banging, Sensorineural hearing impairment, L...	OMIM:619575
Panhypophysitis	Abnormal thalamic MRI signal intensity, Central diabetes insipidus, Reduced circulating prolactin...	ORPHA:95513
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa	High palate, Nasal polyposis, Downslanted palpebral fissures, Bifid uvula, Median cleft upper lip	OMIM:155145
Orofaciodigital Syndrome V	Aganglionic megacolon, Sandal gap, Postaxial hand polydactyly, High palate, Ankyloglossia, Postax...	OMIM:174300
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Diarrhea, Increased urinary glycerol, Dyspnea, Vomiting, Tachycardia, Inter...	ORPHA:348
Den Hoed-De Boer-Voisin Syndrome	Agitation, Recurrent urinary tract infections, Tremor, Decreased body weight, Stereotypical hand ...	OMIM:619229
Foxg1 Syndrome Due To 14Q12 Microdeletion	Protruding ear, Abnormal antihelix morphology, Motor stereotypy	ORPHA:261144
Alpha-Mannosidosis, Adult Form	Mixed hearing impairment, Optic disc pallor	ORPHA:309288
Osteopetrosis, Autosomal Recessive 8	Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly	OMIM:615085
Intellectual Developmental Disorder, Autosomal Dominant 45	Hyperactivity, Chorea, Recurrent hand flapping, Slender build, Motor stereotypy, Attention defici...	OMIM:617600
Encephalitis Lethargica	Urinary incontinence, Bradycardia	ORPHA:83600
Radio-Renal Syndrome	Retrognathia, High, narrow palate, Renal hypoplasia/aplasia, Hypoplasia of the radius, Respirator...	ORPHA:3015
Atypical Pantothenate Kinase-Associated Neurodegeneration	Tongue atrophy	ORPHA:216873
Spondylometaphyseal Dysplasia, Sedaghatian Type	Narrow greater sciatic notch, Cone-shaped epiphyses of the phalanges of the hand, Short ribs, Sho...	OMIM:250220
Infantile Krabbe Disease	Optic atrophy, Delayed brainstem auditory evoked response conduction time, Decreased nerve conduc...	ORPHA:206436
Witteveen-Kolk Syndrome	Congenital diaphragmatic hernia, Sensorineural hearing impairment, Delayed skeletal maturation, L...	OMIM:613406
Chromosome 15Q25 Deletion Syndrome	Congenital diaphragmatic hernia, Thin vermilion border, Pectus excavatum, Cleft upper lip, Long f...	OMIM:614294
Hennekam Syndrome	Lymphadenopathy, Hypocalcemia, Lymphangioma, Splenomegaly, Pulmonary lymphangiectasia, Lymphopenia	ORPHA:2136
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Abnormal response to glucagon stimulation test, Focal pancr...	ORPHA:79644
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ...	OMIM:276820
Overhydrated Hereditary Stomatocytosis	Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja...	OMIM:185000
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Abnormal renal morphology, Biliary tract abnormality, Decreased number...	OMIM:137920
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol...	OMIM:300908
Fanconi Anemia	Renal hypoplasia/aplasia, Meckel diverticulum, Abnormal renal morphology, Abnormal pinna morpholo...	ORPHA:84
Mullerian Aplasia And Hyperandrogenism	Unilateral renal agenesis, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the ute...	OMIM:158330
Partial Androgen Insensitivity Syndrome	Blind vagina, Clitoral hypertrophy, Hypospadias, Azoospermia, Aplasia of the uterus, Urogenital s...	ORPHA:90797
Coffin-Siris Syndrome 1	Congenital diaphragmatic hernia, Retrognathia, Duodenal ulcer, Ectopic kidney, Dislocated radial ...	OMIM:135900
Familial Isolated Hyperparathyroidism	Hypercalcemia, Hypophosphatemia	ORPHA:99879
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Hypochromic microcytic anemia, B lymphocytopenia, Cardiomyopathy, Sideroblastic anemia, Nephrocal...	OMIM:616084
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Delayed puberty, Gastroparesis, Decreased circulating gonadotropin concentration, Decreased circu...	ORPHA:177901
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly, Anemia	OMIM:618838
Schinzel-Giedion Midface Retraction Syndrome	Ureteral stenosis, Shallow orbits, Opisthotonus, Abnormal nasopharynx morphology, Short distal ph...	OMIM:269150
Ventricular Fibrillation, Paroxysmal Familial, 1	Syncope, Ventricular fibrillation, Tachycardia	OMIM:603829
Gaucher Disease Type 1	Cirrhosis, Hepatomegaly, Anemia, Hematuria, Cholelithiasis, Pancytopenia, Biliary tract obstructi...	ORPHA:77259
Waisman Syndrome	Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Co...	OMIM:311510
Glossopharyngeal Neuralgia	Syncope, Jaw claudication, Bradycardia	ORPHA:221098
Sheehan Syndrome	Orthostatic hypotension, Normochromic anemia, Bradycardia, Hyposthenuria, Palpitations	ORPHA:91355
Familial Partial Lipodystrophy, Dunnigan Type	Congestive heart failure, Glomerulopathy, Hepatomegaly, Pancreatitis, Hypertrophic cardiomyopathy...	ORPHA:2348
Insulin-Resistance Syndrome Type B	Abnormal salivary gland morphology, Hyperinsulinemia, Increased serum testosterone level, Fasting...	ORPHA:2298
Griscelli Syndrome	Jaundice, Hepatomegaly, Lymphadenopathy, Ascites, Bone marrow hypocellularity, Leukopenia, Spleno...	ORPHA:381
Alpha-Mannosidosis, Infantile Form	Talipes valgus, Cranial hyperostosis, Osteopenia, Genu valgum, Widely spaced teeth, Facial hypoto...	ORPHA:309282
Chikungunya	Abnormal bleeding, Lymphadenopathy, Petechiae, Diarrhea, Gingival bleeding, Vomiting, Epistaxis, ...	ORPHA:324625
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Delayed puberty, Gastroparesis, Decreased circulating gonadotropin concentration, Decreased circu...	ORPHA:98754
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocytosis, Nephrotic sy...	ORPHA:39041
Frontofacionasal Dysplasia	Midface retrusion, Short nose, Midline defect of the nose, Orofacial cleft, Hypoplasia of the fro...	OMIM:229400
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Renal hypoplasia, Ketonuria	OMIM:619053
Charcot-Marie-Tooth Disease Type 4C	Difficulty in tongue movements, Hammertoe, Weakness of facial musculature, Tongue fasciculations,...	ORPHA:99949
Restrictive Dermopathy 2	Convex nasal ridge, Rectal prolapse, Hypoplastic facial bones, Microretrognathia	OMIM:619793
Thrombocytopenia 10	Abnormal bleeding, Petechiae, Decreased mean platelet volume, Spontaneous, recurrent epistaxis, M...	OMIM:620484
Diets-Jongmans Syndrome	Congenital diaphragmatic hernia, Long ear, Hypospadias, Low hanging columella, Hearing impairment...	OMIM:618846
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Macrotia, Failure to thrive, Inappropriate laughter, Motor stereotypy, Prominent antihelix	OMIM:615802
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Congestive heart failure, Hepatomegaly, Anemia, Lymphadenopathy, Vesicoureteral reflux, Cholestas...	OMIM:615895
Genitourinary And/Or Brain Malformation Syndrome	Aplasia of the nasal bone, Long philtrum, Hypospadias, Urogenital sinus anomaly, Holoprosencephal...	OMIM:618820
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills	Hyperventilation, Abnormal autonomic nervous system physiology, Apnea, Short foot, Small hand	OMIM:617903
Exstrophy-Epispadias Complex	Urinary incontinence, Bifid penis, Bifid scrotum, Bladder fistula, Bladder duplication, Abnormal ...	ORPHA:322
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Delayed puberty, Gastroparesis, Decreased circulating gonadotropin concentration, Decreased circu...	ORPHA:98793
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Hypercalcemia	OMIM:614732
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Muscular dystrophy, Myositis, Intercostal muscle weakness, Facial palsy, Protruding tongue, Muscl...	ORPHA:258
Sarcoidosis, Susceptibility To, 1	Enlarged lacrimal glands, Abnormal salivary gland morphology, Mediastinal lymphadenopathy, Pancyt...	OMIM:181000
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Increased...	ORPHA:3202
Phelan-Mcdermid Syndrome	Abnormality of the kidney, Tongue thrusting, Impaired pain sensation, Polycystic kidney dysplasia...	OMIM:606232
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Delayed puberty, Gastroparesis, Decreased circulating gonadotropin concentration, Decreased circu...	ORPHA:177904
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Optic atrophy, Urinary incontinence, Neurogenic bladder, Macrotia, Dystonia, Ataxia, Dysphagia, M...	ORPHA:496641
Osteogenesis Imperfecta	Intestinal obstruction, Abnormal femur morphology, Reduced bone mineral density, Abnormal hip bon...	ORPHA:666
Immunodeficiency 23	Sensorineural hearing impairment, Conductive hearing impairment	OMIM:615816
Cardiac Diverticulum	Premature ventricular contraction, Aortic valve stenosis, Abnormal heart morphology, Mitral valve...	ORPHA:1686
Robin Sequence With Cleft Mandible And Limb Anomalies	Cleft lower alveolar ridge, Mesomelic arm shortening, Short metacarpal, Bifid uvula, Short 5th fi...	OMIM:268305
Arterial Calcification, Generalized, Of Infancy, 1	Congestive heart failure, Hypertension, Renal artery stenosis, Cardiomegaly, Dilated cardiomyopat...	OMIM:208000
Mucopolysaccharidosis, Type Iiic	Joint stiffness, Thickened ribs, Everted lower lip vermilion, Dense calvaria	OMIM:252930
Immunodeficiency 36 With Lymphoproliferation	Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr...	OMIM:616005
Hyperekplexia 1	Hypertonia, Frequent falls, Exaggerated startle response, Apnea, Myoclonus	OMIM:149400
Craniofaciofrontodigital Syndrome	Congestive heart failure, Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aor...	ORPHA:363705
Chromosome 13Q14 Deletion Syndrome	Supernumerary nipple, Anteverted ears, Everted lower lip vermilion, Low-set ears, High palate, He...	OMIM:613884
Adult-Onset Dystonia-Parkinsonism	Bradykinesia, Hypomimic face, Spasticity, Parkinsonism with favorable response to dopaminergic me...	ORPHA:199351
Adenohypophysitis	Abnormal thalamic MRI signal intensity, Reduced circulating prolactin concentration, Hyposthenuri...	ORPHA:95512
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Obsessive-compulsive trait, Pain insensitivity, Motor stereotypy, Attention deficit hyperactivity...	OMIM:618825
Proximal Spinal Muscular Atrophy	Atrial septal defect, Bradycardia	ORPHA:70
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr...	OMIM:194380
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Narrow greater sciatic notch, Flared metaphysis, Short long bone, Metaphyseal spurs, Short metaca...	ORPHA:85167
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Tongue fasciculations, Tongue atrophy	OMIM:613435
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno...	ORPHA:3203
Uremic Pruritus	Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia	ORPHA:94059
Mcleod Syndrome	Hepatomegaly, Atrial fibrillation, Cardiomyopathy, Splenomegaly, Dilated cardiomyopathy, Acanthoc...	OMIM:300842
Thrombocytopenia 1	Petechiae, Decreased mean platelet volume, Joint hemorrhage, Epistaxis, Intermittent thrombocytop...	OMIM:313900
Hsd10 Disease, Infantile Type	Cardiomegaly, Abnormal concentration of acylcarnitine in the urine, Abnormality of the lower urin...	ORPHA:391428
Stüve-Wiedemann Syndrome	Respiratory distress, Smooth tongue, Trismus, Elbow flexion contracture, Abnormality of the denti...	ORPHA:3206
Felty Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Recurrent urinary tract infections, Abnormal lymphocyte mo...	ORPHA:47612
Cornelia De Lange Syndrome	Congenital diaphragmatic hernia, Delayed puberty, Hypoplasia of penis, Sensorineural hearing impa...	ORPHA:199
Systemic-Onset Juvenile Idiopathic Arthritis	Pericarditis, Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:85414
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Tetrasomy 9P	Abnormal earlobe morphology, Abnormal number of permanent teeth, Dental crowding, Aplasia/Hypopla...	ORPHA:3310
Thrombocytopenia 3	Petechiae, Thrombocytopenia, Epistaxis, Decreased mean platelet volume	OMIM:273900
Peters Plus Syndrome	Ureteral duplication, Renal hypoplasia/aplasia, Pulmonic stenosis, Wide mouth, Long philtrum, Opt...	ORPHA:709
Okur-Chung Neurodevelopmental Syndrome	Anteverted nares, Scoliosis, Low-set ears, High palate, Protruding tongue, Micrognathia, Thin upp...	OMIM:617062
Adult-Onset Still Disease	Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Bone marrow hypocellularity, Pe...	ORPHA:829
Pyruvate Kinase Deficiency Of Red Cells	Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Cholelithiasis, Hepat...	OMIM:266200
Occipital Horn Syndrome	Limited elbow extension, Genu valgum, Narrow chest, Hiatus hernia, Short clavicles, Pectus carina...	OMIM:304150
Pseudohypoparathyroidism Type 1A	Calcinosis, Hypocalcemic seizures, Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia	ORPHA:79443
Arthrogryposis, Distal, Type 2A	Hearing impairment, Abnormal auditory evoked potentials	OMIM:193700
Larsen Syndrome	Conductive hearing impairment	ORPHA:503
Charcot-Marie-Tooth Disease Type 4B2	Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Difficulty in tongue ...	ORPHA:99956
Autism, Susceptibility To, 3	Inflexible adherence to routines, Restrictive behavior, Motor stereotypy, Ketonuria	OMIM:608049
Thrombocytopenia, Anemia, And Myelofibrosis	Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly	OMIM:617441
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Recurrent hand flapping, Compulsive behaviors, Failure to thrive, Ataxia, Motor stereotypy, Atten...	OMIM:300986
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Abnormal hemoglobin c...	ORPHA:35858
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Congestive heart failure, 3-Methylglutaconic aciduria, Increased hepatic glycogen content, Cardio...	OMIM:619259
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Narrow greater sciatic notch, Short finger, Flared metaphysis, Metaphyseal cupping, Femoral bowin...	OMIM:608940
Chromosome 15Q11.2 Deletion Syndrome	Compulsive behaviors, Macrotia, Ataxia, Motor stereotypy, Attention deficit hyperactivity disorder	OMIM:615656
Myotonia Fluctuans	Apnea, Spasticity of facial muscles	ORPHA:99734
Cardiomyopathy, Dilated, 1S	Congestive heart failure, Perimembranous ventricular septal defect, Reduced left ventricular ejec...	OMIM:613426
Brittle Cornea Syndrome	Sensorineural hearing impairment, Conductive hearing impairment	ORPHA:90354
Caroli Disease	Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a...	ORPHA:53035
Non-Functioning Pituitary Adenoma	Vertigo, Female hypogonadism, Hypogonadism, Central adrenal insufficiency, Adrenal insufficiency,...	ORPHA:91349
Q Fever	Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal left ventricular function, Hematuria...	ORPHA:781
Liver Disease, Severe Congenital	Lymphocytosis, Hypoproteinemia, Biliary hyperplasia, Hyperammonemia, Leukopenia, Splenomegaly, He...	OMIM:619991
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Portal fibrosis, Hepatomegaly, Portal inflammation...	OMIM:602347
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Splenomegaly, Heparan sulfate excretion in urine, Asymmetric septal hypertrophy	OMIM:252900
Familial Mediterranean Fever	Pancreatitis, Lymphadenopathy, Vasculitis, Leukocytosis, Ascites, Nephrotic syndrome, Pericarditi...	ORPHA:342
Velocardiofacial Syndrome	Hypocalcemia, Retinal vascular tortuosity	OMIM:192430
Intellectual Developmental Disorder, Autosomal Recessive 41	Self-injurious behavior, Motor stereotypy	OMIM:615637
Surfactant Metabolism Dysfunction, Pulmonary, 1	Dyspnea, Pulmonary arterial hypertension, Death in infancy, Apnea, Neonatal death, Tachypnea	OMIM:265120
Lumbar Syndrome	Hypospadias, Vesicoureteral reflux, Bifid scrotum, Renal agenesis, Renal duplication, Bifid uteru...	ORPHA:83628
Reticular Dysgenesis	Congenital agranulocytosis, Leukopenia, Hypoplasia of the thymus, Lymphopenia	OMIM:267500
Pparg-Related Familial Partial Lipodystrophy	Congestive heart failure, Cirrhosis, Hepatomegaly, Pancreatitis, Hypertension, Hypertrophic cardi...	ORPHA:79083
Double Outlet Left Ventricle	Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Abnormal right ventricu...	ORPHA:3427
Otopalatodigital Syndrome, Type I	Conductive hearing impairment	OMIM:311300
Fanconi Anemia, Complementation Group W	Renal hypoplasia	OMIM:617784
Autosomal Dominant Kenny-Caffey Syndrome	Hypocalcemic seizures, Anemia, Retinal calcification, Papilledema, Hypocalcemic tetany, Hyperphos...	ORPHA:93325
Phocomelia, Schinzel Type	Short nose, High, narrow palate, Hypoplasia of the radius, Fibular aplasia, Aplasia/Hypoplasia of...	ORPHA:2879
Diethylstilbestrol Syndrome	Hypoplasia of the uterus, Hypospadias, Abnormal reproductive system morphology, Abnormal testis m...	ORPHA:1916
Mucolipidosis Iii Alpha/Beta	Carpal bone hypoplasia, Short long bone, Short ribs, Split hand, Limitation of joint mobility, Ir...	OMIM:252600
Telangiectasia, Hereditary Hemorrhagic, Type 4	Tongue telangiectasia, Ischemic stroke, Right-to-left shunt, Lip telangiectasia, Spontaneous, rec...	OMIM:610655
Immunodeficiency 10	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Recurrent urinary tract infections, A...	OMIM:612783
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired...	OMIM:613470
Gm1-Gangliosidosis, Type I	Congestive heart failure, Hepatomegaly, Vacuolated lymphocytes, Abnormal heart valve morphology, ...	OMIM:230500
Myotonia, Potassium-Aggravated	Skeletal muscle hypertrophy, Apneic episodes in infancy, Skeletal muscle atrophy	OMIM:608390
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Palpebral edema, Poor gross motor coordination, Gait ataxia, Short ear, Ataxia, Long philtrum, An...	OMIM:614756
Syndromic Diarrhea	Bicuspid aortic valve, Cirrhosis, Hepatomegaly, Atrial septal defect, Aortic regurgitation, Polyc...	ORPHA:84064
Renal Hypoplasia	Abnormal renal tubule morphology, Unilateral renal agenesis, Pelvic kidney, Recurrent urinary tra...	ORPHA:93101
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Abnormal va...	ORPHA:168563
Aspergillosis	Osteomyelitis, Abnormal long bone morphology, Abnormal esophagus morphology, Abnormal rib morphology	ORPHA:1163
Lelis Syndrome	Midface retrusion, Mandibular prognathia, Furrowed tongue, Carious teeth, Hypodontia	ORPHA:140936
Shukla-Vernon Syndrome	Attention deficit hyperactivity disorder, Motor stereotypy, Impulsivity, Aggressive behavior	OMIM:301029
Cutis Laxa, Autosomal Recessive, Type Ia	Congenital diaphragmatic hernia, Arachnodactyly, Pectus excavatum, Joint hypermobility	OMIM:219100
Meckel Syndrome 14	Polycystic kidney dysplasia, Aplasia of the uterus, Tricuspid regurgitation, Ambiguous genitalia,...	OMIM:619879
Melioidosis	Foot osteomyelitis, Parotitis, Splenic abscess, Abnormality of the spleen, Osteoarthritis, Septic...	ORPHA:31202
Microcephaly 26, Primary, Autosomal Dominant	Short nose, Gingival overgrowth, Scoliosis, Protruding tongue, Hydronephrosis, Prominent nasal br...	OMIM:619179
Cardiomyopathy, Dilated, 1Y	Congestive heart failure, Increased left ventricular end-diastolic volume, Atrial fibrillation, E...	OMIM:611878
Duplication Of Urethra	Rectourethral fistula, Epispadias, Urinary incontinence, Hypospadias, Recurrent urinary tract inf...	ORPHA:237
Townes-Brocks Syndrome 1	Hypospadias, Small for gestational age, Renal insufficiency, Sensorineural hearing impairment, Mi...	OMIM:107480
Rajab Interstitial Lung Disease With Brain Calcifications 1	Cirrhosis, Anemia, Pancytopenia, Hypocalcemia, Cholestasis, Portal hypertension, Unconjugated hyp...	OMIM:613658
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Pancreatitis, Hypercalcemia, Hypophosphatemia	OMIM:600740
Achondroplasia	Conductive hearing impairment, Recurrent otitis media	OMIM:100800
Mesomelia-Synostoses Syndrome	Short metatarsal, Telecanthus, Micromelia, Hearing impairment, Ptosis, Downslanted palpebral fiss...	OMIM:600383
Spondylometaphyseal Dysplasia, Sedaghatian Type	Narrow chest, Short metacarpal, Abnormal rib morphology, Iliac crest serration, Short palm, Metap...	ORPHA:93317
Fetal Cytomegalovirus Syndrome	Jaundice, Anemia, Hepatomegaly, Retinal hemorrhage, Thrombocytopenia, Splenomegaly, Hepatitis	ORPHA:294
Cronkhite-Canada Syndrome	Intestinal polyposis, Stomach cancer, Furrowed tongue, Hamartomatous polyposis, Colon cancer, Hyp...	ORPHA:2930
Intellectual Developmental Disorder, Autosomal Dominant 29	Narrow palate, Wide nose, Dental crowding, Hyperlordosis, Low-set ears, High palate, Narrow mouth...	OMIM:616078
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Unilateral hypoplasia of pectoralis major muscle, Unilateral brachydactyly, Short lingual frenulu...	ORPHA:1521
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Bilateral cleft palate, Intestinal malrotation, Micrognathia, Short neck, Bifid tongue	ORPHA:2001
Mixed Connective Tissue Disease	Myocarditis, Gastrointestinal hemorrhage, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopa...	ORPHA:809
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog...	ORPHA:100026
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly	OMIM:611490
Hypothyroidism Due To Tsh Receptor Mutations	Prolonged neonatal jaundice, Bradycardia	ORPHA:90673
Complete Androgen Insensitivity Syndrome	Blind vagina, Female external genitalia in individual with 46,XY karyotype, Testicular neoplasm, ...	ORPHA:99429
Familial Aortic Dissection	Cardiomegaly, Abnormal left ventricular function, Aortic regurgitation	ORPHA:229
1Q21.1 Microdeletion Syndrome	Hydrocephalus, Sensorineural hearing impairment, Scoliosis, Vesicoureteral reflux, High palate, A...	ORPHA:250989
Ethylene Glycol Poisoning	Hypocalcemia, Hyperkalemia	ORPHA:31826
Parkinson Disease 20, Early-Onset	Bradykinesia, Tremor, Involuntary movements, Leg muscle stiffness, Rigidity, Dysphagia, Parkinson...	OMIM:615530
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Elevated urinary inosine level, Neutropenia in presence of anti-neut...	OMIM:613179
Solar Urticaria	Abnormal lip morphology, Abnormal tongue morphology	ORPHA:97230
Infantile Myofibromatosis	Neoplasm of the pancreas, Hypercalcemia	ORPHA:2591
Proteus Syndrome	Enlarged kidney, Ovarian neoplasm, Long penis, Testicular neoplasm, Neoplasm of the thymus, Renal...	ORPHA:744
Cranioectodermal Dysplasia 1	Hepatomegaly, Retinal dystrophy, Hypocalcemia, Hepatic cysts, Hepatic fibrosis, Malformation of t...	OMIM:218330
Infection-Related Hemolytic Uremic Syndrome	Hyperkalemia, Pancreatitis, Hypocalcemia, Leukocytosis, Hyponatremia, Thrombocytopenia, Hemolytic...	ORPHA:544482
Slc39A8-Cdg	Sudden episodic apnea, Elbow flexion contracture, Low-set ears, Hearing impairment, Limb undergro...	ORPHA:468699
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Conductive hearing impairment, Recurrent otitis media	ORPHA:2502
Megalocornea-Intellectual Disability Syndrome	Protruding ear, Sensorineural hearing impairment, Ataxia, Motor stereotypy	ORPHA:2479
Vacterl Association With Hydrocephalus	Renal hypoplasia	OMIM:276950
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia	OMIM:612089
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Torticollis, Sensorineural hearing impairment, Optic nerve hypoplasia, Bilateral sensorineural he...	ORPHA:300570
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Failure to thrive, Agitation, Ataxia, Motor stereotypy	ORPHA:927
Focal Dermal Hypoplasia	Congenital diaphragmatic hernia, Mixed hearing impairment, Ureteral duplication, Myelomeningocele...	OMIM:305600
Myelofibrosis	Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop...	OMIM:254450
Townes-Brocks Syndrome	Abnormality of the kidney, Abnormal tragus morphology, Ectopic kidney, Hypoplasia of penis, Hypos...	ORPHA:857
Hereditary Spherocytosis	Jaundice, Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp...	ORPHA:822
Cantu Syndrome	Cardiomegaly, Bicuspid aortic valve, Pericardial effusion, Congenital hypertrophy of left ventricle	OMIM:239850
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated creatine kinase after exercise, Hypercalcemia	ORPHA:284426
Spherocytosis, Type 4	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:612653
45,X/46,Xy Mixed Gonadal Dysgenesis	Ambiguous genitalia, male, Prolonged QT interval, Bifid scrotum, Bicuspid aortic valve, Abnormali...	ORPHA:1772
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome	Sacral dimple, Posterior fusion of lumbosacral vertebrae, Tarsal synostosis, Abnormal form of the...	ORPHA:2064
Microphthalmia With Linear Skin Defects Syndrome	Congenital diaphragmatic hernia, Retrognathia, Epispadias, Sacral dimple, Midface retrusion, Abno...	ORPHA:2556
Pseudohypoparathyroidism, Type Ia	Hyperphosphatemia, Hypocalcemic tetany	OMIM:103580
Williams-Beuren Syndrome	Obsessive-compulsive trait, Recurrent otitis media, Renal insufficiency, Hypercalciuria, Sensorin...	OMIM:194050
Rh Deficiency Syndrome	Jaundice, Macrocytic anemia, Hypochromia, Spherocytosis, Reticulocytosis, Anisocytosis, Hepatospl...	ORPHA:71275
Pgm3-Cdg	Chronic otitis media, Sensorineural hearing impairment, Conductive hearing impairment, Mild neuro...	ORPHA:443811
Kcnq2-Related Epileptic Encephalopathy	Poor gross motor coordination, Apnea	ORPHA:439218
Spherocytosis, Type 2	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia	OMIM:616649
Warburg-Cinotti Syndrome	Low-set ears, Atresia of the external auditory canal, Conductive hearing impairment, Posteriorly ...	OMIM:618175
Restrictive Dermopathy	Ureteral duplication, Sparse or absent eyelashes, Temporomandibular joint ankylosis, Aplasia/Hypo...	ORPHA:1662
Cockayne Syndrome Type 1	Optic atrophy, Absent brainstem auditory responses, Hearing impairment, Macrotia, Abnormality of ...	ORPHA:90321
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp...	OMIM:603554
Tooth Agenesis, Selective, X-Linked, 1	Agenesis of premolar, Agenesis of molar, Aplasia of the maxilla, Oligodontia, Selective tooth age...	OMIM:313500
Holt-Oram Syndrome	Aplasia of the pectoralis major muscle, Cervical C2/C3 vertebral fusion, Proximal placement of th...	OMIM:142900
Isolated Thyroid-Stimulating Hormone Deficiency	Prolonged neonatal jaundice, Macroorchidism, Bradycardia	ORPHA:90674
Parkinson Disease 18, Autosomal Dominant, Susceptibility To	Bradykinesia, Resting tremor, Parkinsonism, Rigidity	OMIM:614251
Epilepsy With Eyelid Myoclonia	Abnormal head movements	ORPHA:139431
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:182900
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Anemia, Hypocalcemia, Hyperbilirubinemia, Thrombocytopenia, Absent gallbladder	ORPHA:163979
Eisenmenger Syndrome	Aortopulmonary window, Ascites, Left-to-right shunt, Abnormal heart morphology, Heart murmur, Rig...	ORPHA:97214
Parkinson Disease 21	Bradykinesia, Rigidity, Tremor, Parkinsonism	OMIM:616361
Hallermann-Streiff Syndrome	Narrow palate, Thin vermilion border, Supernumerary tooth, High, narrow palate, Decreased number ...	OMIM:234100
Cystinosis	Polydipsia, Nephropathy, Failure to thrive, Proteinuria, Motor stereotypy, Renal insufficiency, A...	ORPHA:213
Congenital Left Ventricular Aneurysm	Congestive heart failure, Abnormal ST segment, Apnea, Arrhythmia, Abnormal T-wave	ORPHA:1055
Adult-Onset Autosomal Dominant Leukodystrophy	Orthostatic hypotension, Sensorineural hearing impairment, Abnormal auditory evoked potentials, A...	ORPHA:99027
Epidermolysis Bullosa Simplex With Pyloric Atresia	Muscular dystrophy, Glomerular sclerosis, Microtia, Aplasia of the bladder, Congenital pyloric at...	ORPHA:158684
Renal Nutcracker Syndrome	Anemia, Orthostatic hypotension, Hematuria, Tachycardia, Renal artery stenosis, Vulval varicose v...	ORPHA:71273
Cryohydrocytosis	Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:185020
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hypertonia, Death in childhood, Gastroesophageal reflux, Respiratory distress, Spasticity, Death ...	OMIM:618426
Orofaciodigital Syndrome Type 14	Epispadias, Supernumerary tooth, Aplasia of the epiglottis, Low-set, posteriorly rotated ears, Bi...	ORPHA:434179
Wolman Disease	Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites, Splenomegaly	ORPHA:75233
Budd-Chiari Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Gastrointestinal hemorrhage, Ascites, Portal hypertension, Spl...	ORPHA:131
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Hypoplasia of the ovary, Decreased testicular size, Micropenis, Cryptorchidism, Hypoplasia of the...	OMIM:614841
Surfactant Metabolism Dysfunction, Pulmonary, 3	Exertional dyspnea, Respiratory distress, Dyspnea, Death in infancy, Apnea, Neonatal death, Tachy...	OMIM:610921
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, R...	OMIM:224120
Ulbright-Hodes Syndrome	Abnormal pinna morphology, Short ribs, Short metacarpal, Mesomelia, Short humerus, Hypoplasia of ...	ORPHA:3404
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Sensorineural hearing impairment, Limb dystonia, Motor stereotypy, Self-injurious behavior	ORPHA:457351
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatomegaly, Chronic hemolytic anemia, Microvesicular hepatic steatosis, Ventricular hypertrophy...	OMIM:618278
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A...	ORPHA:86843
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly, Hypertension, Pulmonary arterial hypertension	OMIM:613320
Cerebrooculonasal Syndrome	Low-set ears, Conductive hearing impairment, Optic nerve hypoplasia, Posteriorly rotated ears	OMIM:605627
Short Stature, Developmental Delay, And Congenital Heart Defects	Attention deficit hyperactivity disorder, Self-injurious behavior, Compulsive behaviors, Motor st...	OMIM:617044
Autoimmune Hepatitis	Cirrhosis, Jaundice, Gastrointestinal hemorrhage, Sclerosing cholangitis, Acute hepatitis, Spider...	ORPHA:2137
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Jaundice, Hepatomegaly, Anemia of inadequate production, Exocrine pancreatic insufficiency, Splen...	OMIM:612714
Mirage Syndrome	Hyperkalemia, Anemia, Hyponatremia, Hypoplastic spleen, Leukopenia, Thrombocytopenia, Lymphopenia	OMIM:617053
Familial Mediterranean Fever	Hepatomegaly, Leukocytosis, Nephrotic syndrome, Pericarditis, Neutrophilia, Splenomegaly, Periton...	OMIM:249100
Meier-Gorlin Syndrome 6	Stenosis of the external auditory canal, Microtia, Conductive hearing impairment, Posteriorly rot...	OMIM:616835
Oculodentodigital Dysplasia	Optic atrophy, Abnormal pinna morphology, Hearing impairment, Conductive hearing impairment, Abno...	ORPHA:2710
Shwachman-Diamond Syndrome 2	Steatorrhea, Death in childhood, High palate, Death in infancy, Anterior rib cupping, Metaphyseal...	OMIM:617941
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Urinary incontinence, Tremor, Compulsive behaviors, Gait ataxia, Failure to thrive, Motor stereot...	ORPHA:476126
Gaucher Disease Type 3	Hepatomegaly, Anemia, Hematuria, Pancytopenia, Abnormal heart valve morphology, Aortic valve calc...	ORPHA:77261
Severe Combined Immunodeficiency, X-Linked	Chronic diarrhea, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the t...	OMIM:300400
Scheie Syndrome	Mucopolysacchariduria, Hepatomegaly, Splenomegaly, Aortic regurgitation	ORPHA:93474
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatocellular adenoma, Cirrhosis, Portal fibrosis, Hepatomegaly, Anemia, Renal tubular acidosis,...	ORPHA:264580
Scimitar Syndrome	Hypoplasia of the diaphragm, Abnormal hemidiaphragm morphology, Abnormality of the vertebral column	ORPHA:185
Hypomagnesemia 3, Renal	Hypocalcemic seizures, Increased circulating beta-C-terminal telopeptide concentration, Hyperuric...	OMIM:248250
Loeys-Dietz Syndrome 6	Congenital diaphragmatic hernia, Osteochondritis dissecans, Hip osteoarthritis, Intervertebral di...	OMIM:619656
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Hypospadias, Unilateral renal agenesis, Pelvic kidney, Renal cyst, Attention deficit hyperactivit...	ORPHA:464311
Gm1-Gangliosidosis, Type Ii	Gingival overgrowth, Narrow mouth, Protruding tongue, Joint stiffness, Thin bony cortex, Thoracol...	OMIM:230600
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Renal salt wasting, Ambiguous genitalia, male, Clitoral hypertrophy, Female external genitalia in...	ORPHA:168558
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Horizontal ribs, Bell-shaped thorax	OMIM:614857
8Q24.3 Microdeletion Syndrome	Abnormality of the kidney, Unilateral renal agenesis, Hyperactivity, Optic nerve hypoplasia, Pelv...	ORPHA:508488
Holoprosencephaly 13, X-Linked	Semilobar holoprosencephaly, Solitary median maxillary central incisor, Gastroesophageal reflux, ...	OMIM:301043
Autoinflammatory Disease, Systemic, With Vasculitis	Small vessel vasculitis, Jaundice, Hepatomegaly, Anemia, Congenital hydrocele, Increased B cell c...	OMIM:620376
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Abnormal temper tantrums, Low-set ears, Ataxia, Motor stereotypy, Aggressive behavior	ORPHA:457279
Glucose-Galactose Malabsorption	Hypernatremia, Hypercalcemia	ORPHA:35710
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Sensorineural hearing impairment, Conductive hearing impairment, Low-set ears	OMIM:235510
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Attention deficit hyperactivity disorder, Urinary incontinence, Paroxysmal dystonia, Motor stereo...	ORPHA:98784
Limb Body Wall Complex	Congenital diaphragmatic hernia, Aplasia/hypoplasia involving bones of the upper limbs, Aplasia/H...	ORPHA:2369
Cholestasis, Progressive Familial Intrahepatic, 2	Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic...	OMIM:601847
Hunter-Macdonald Syndrome	Sensorineural hearing impairment, Conductive hearing impairment, Cranial nerve paralysis	OMIM:611962
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Renal salt wasting, Ambiguous genitalia, male, Clitoral hypertrophy, Female external genitalia in...	ORPHA:289548
Familial Thrombocytosis	Acute myeloid leukemia, Transient ischemic attack, Cerebral ischemia, Pulmonary arterial hyperten...	ORPHA:71493
Orofaciodigital Syndrome Xiv	Epispadias, Supernumerary tooth, Occipital encephalocele, Aplasia of the epiglottis, Low-set ears...	OMIM:615948
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis	OMIM:618042
Bile Acid Synthesis Defect, Congenital, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic stools, Bile duct proliferat...	OMIM:613812
Congenital Disorder Of Glycosylation, Type Iiw	Supernumerary tooth, Bilateral choanal atresia, Recurrent otitis media, Anemia, Wide nose, Underd...	OMIM:619525
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Blind vagina, Ambiguous genitalia, male, Female external genitalia in individual with 46,XY karyo...	ORPHA:90793
Familial Hypocalciuric Hypercalcemia	Hypermagnesemia, Hypocalcemic seizures, Pancreatitis, Hypercalcemia, Renal hypophosphatemia	ORPHA:405
Developmental And Epileptic Encephalopathy 100	Bilateral camptodactyly, Gingival overgrowth, Elbow flexion contracture, High palate, Scoliosis, ...	OMIM:619777
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Sensorineural hearing impairment, Mixed hearing impairment	OMIM:215150
Alzahrani-Kuwahara Syndrome	Hypospadias, Hypodontia, Narrow philtrum, Low-set ears, Prominent nose, Hearing impairment, Macro...	OMIM:619268
Macrophage Activation Syndrome	Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Lymphadenopathy, Thro...	ORPHA:158061
Yunis-Varon Syndrome	Rocker bottom foot, Broad secondary alveolar ridge, Absent sternal ossification, Abnormal finger ...	ORPHA:3472
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities	Attention deficit hyperactivity disorder, Optic nerve hypoplasia, Motor stereotypy	OMIM:620502
Bosma Arhinia Microphthalmia Syndrome	Atresia of the external auditory canal, Conductive hearing impairment, Abnormal pinna morphology,...	OMIM:603457
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune...	OMIM:616100
Gitelman Syndrome	Hypermagnesemia, Neoplasm of the pancreas, Iron deficiency anemia, Hypokalemia, Hypocalcemia, Hyp...	ORPHA:358
Dyrk1A-Related Intellectual Disability Syndrome	Hypospadias, Unilateral renal agenesis, Hyperactivity, Pelvic kidney, Renal cyst, Macrotia, Failu...	ORPHA:464306
Norrie Disease	Delayed puberty, Thin vermilion border, Optic atrophy, Hypertonia, Narrow nasal bridge, Sensorine...	ORPHA:649
Axenfeld-Rieger Syndrome, Type 1	Decreased response to growth hormone stimulation test, Anal stenosis, Hypospadias, Short philtrum...	OMIM:180500
Hutchinson-Gilford Progeria Syndrome	Abnormal nasal tip morphology, Retrognathia, Reduced bone mineral density, Narrow nasal ridge, De...	ORPHA:740
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypoplasia of the uterus, Azoospermia, Decreased testicular size, Cryptorchidism, Micropenis, Hyp...	OMIM:614837
Coffin-Lowry Syndrome	Narrow palate, Rectal prolapse, Thick lower lip vermilion, Widely spaced teeth, Bifid sternum, Hy...	OMIM:303600
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Hyperactivity, Failure to thrive, Motor stereotypy, Attention deficit hyperactivity disorder, Agg...	OMIM:620242
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Nodular r...	OMIM:620367
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Supernumerary tooth, Aplasia of the epiglottis, Narrow chest, Short clavicles, Short long bone, S...	OMIM:617088
Giant Axonal Neuropathy	Facial palsy, Abnormal pituitary gland morphology, Abnormality of the Achilles tendon, Limb muscl...	ORPHA:643
Fucosidosis	Mucopolysacchariduria, Abnormality of the gallbladder, Cardiomegaly, Hepatomegaly	ORPHA:349
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Anemia, Hamartomatous polyposis, Epistaxis, Hematochezia, Juvenile gastrointestinal polyposis, Mi...	OMIM:175050
Congenital Tracheomalacia	Esophageal atresia, Intercostal retractions, Gastroesophageal reflux, Dyspnea, Tracheoesophageal ...	ORPHA:95430
Linear Skin Defects With Multiple Congenital Anomalies 1	Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Ovotestis, Histiocytoid cardiomyopat...	OMIM:309801
Truncus Arteriosus	Transposition of the great arteries, Aortic regurgitation, Cardiomegaly, Abnormal heart valve mor...	ORPHA:3384
Multiple Myeloma	Anemia, Lymphadenopathy, Hypercalcemia, Splenomegaly, Hyperproteinemia, Elevated circulating crea...	ORPHA:29073
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Sensorineural hearing impairment, Conductive hearing impairment, Posteriorly rotated ears, Abnorm...	ORPHA:466943
Codas Syndrome	Sensorineural hearing impairment, Crumpled ear, Conductive hearing impairment	OMIM:600373
Acro-Renal-Ocular Syndrome	Sensorineural hearing impairment, Conductive hearing impairment, Aganglionic megacolon, Optic dis...	ORPHA:959
Okamoto Syndrome	Midface retrusion, Urinary incontinence, Intestinal malrotation, Splenomegaly, Joint hypermobilit...	ORPHA:2729
Spondyloepimetaphyseal Dysplasia, X-Linked	Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, Delayed ossification of car...	OMIM:300106
Autosomal Recessive Ataxia Due To Pex10 Deficiency	Limb ataxia, Progressive cerebellar ataxia, Truncal ataxia, Progressive gait ataxia, Abnormal hea...	ORPHA:247815
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Anemia, Hemophagocytosis, Pancytopenia	OMIM:618398
Pitt-Hopkins Syndrome	Thickened helices, Gait ataxia, Motor stereotypy, Self-injurious behavior, Micropenis, Cupped ear	OMIM:610954
Chand Syndrome	Hydroureter, Agenesis of maxillary incisor, Short fifth metatarsal, Abnormal oral frenulum morpho...	ORPHA:1401
5Q14.3 Microdeletion Syndrome	Optic nerve hypoplasia, Motor stereotypy	ORPHA:228384
Oeis Complex	Epispadias, Ambiguous genitalia, male, Hydroureter, Duplicated collecting system, Vesicovaginal f...	OMIM:258040
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Vasculitis, Renal artery aneurysm, Hypertens...	OMIM:615688
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Abnormal renal collecting system morphology, Severe failure to thrive, Low-set, posteriorly rotat...	ORPHA:468631
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Mandibular prognathia, Widely spaced teeth, Wide mouth, Protruding tongue	ORPHA:98795
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Conductive hearing impairment, Mixed hearing impairment, High-frequency sensorineural hearing imp...	OMIM:614557
Congenital Myopathy 13	Conductive hearing impairment, Low-set ears	OMIM:255995
Exercise-Induced Malignant Hyperthermia	Hyperkalemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Thrombocytopenia,...	ORPHA:466650
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Pelvic kidney, Vesicoureteral reflux, Low-set ears, Obesity, Hydronephrosis, Motor stereotypy, Mi...	OMIM:618653
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomegaly, Urinary incontinence, Cardiomyopathy, Orthostatic hypotension due to autonomic dysf...	OMIM:105210
Holoprosencephaly 4	Semilobar holoprosencephaly, Median cleft palate, Depressed nasal tip, Ptosis, Absent nasal septa...	OMIM:142946
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Urinary incontinence, Hair-pulling, Hyperactivity, Low-set ears, Dysphagia, Motor stereotypy, Pro...	ORPHA:447997
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Truncal ataxia, Facial diplegia, Motor stereotypy, Attention deficit hyperactivity disorder, Dysm...	OMIM:619121
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Polycystic kidney dysplasia, Microtia, Low-set ears, Renal cyst, Failure to thrive, Renal hypopla...	OMIM:210710
Hypotonia, Ataxia, And Delayed Development Syndrome	Small earlobe, Truncal ataxia, Vesicoureteral reflux, Low-set ears, Gait ataxia, Posteriorly rota...	OMIM:617330
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Autoimmune hemolytic anemia, Hepatomegaly, Minimal change glomerulonephritis, Leukocytosis, Neutr...	OMIM:620565
Wiedemann-Steiner Syndrome	Hyperactivity, Dilatation of renal calices, Low-set ears, Failure to thrive, Dysphagia, Motor ste...	ORPHA:319182
Ciliary Dyskinesia With Defective Radial Spokes	Sinusitis, Nasal polyposis, Absent respiratory ciliary axoneme radial spokes, Chronic rhinitis	OMIM:242670
Neurodegeneration And Seizures Due To Copper Transport Defect	Glandular hypospadias, Cardiomegaly, Tricuspid regurgitation	OMIM:620306
Phakomatosis Pigmentokeratotica	Nephroblastoma, Renal transitional cell carcinoma, Hyperesthesia, Unilateral renal hypoplasia	ORPHA:2874
Ciliary Dyskinesia, Primary, 42	Nasal polyposis, Recurrent sinusitis, Chronic rhinitis	OMIM:618695
Elliptocytosis 1	Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia	OMIM:611804
Ataxia-Telangiectasia	Delayed puberty, Chronic diarrhea, Female hypogonadism, T lymphocytopenia, Sinusitis, Ataxia, Myo...	OMIM:208900
Idiopathic Hypereosinophilic Syndrome	Portal fibrosis, Myocardial eosinophilic infiltration, Splenomegaly, Cholangitis, Supraventricula...	ORPHA:3260
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Knee flexion contracture, Elbow flexion contracture, Furrowed tongue, Microdontia, Oral leukoplakia	OMIM:148210
Psoriasis 14, Pustular	Geographic tongue, Oligoarthritis, Furrowed tongue, Polyarticular arthritis	OMIM:614204
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Optic atrophy, Hyperactivity, Sensorineural hearing impairment, Low-set ears, Compulsive behavior...	OMIM:619512
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Anemia, Homocystinuria, Stomatitis, Glossitis, Microtia, Cystathioninuria, Low-set ears, High pal...	OMIM:277380
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Widely spaced teeth, Mandibular prognathia, Scoliosis, Limitation of movement at ankles, Protrudi...	ORPHA:98794
Microphthalmia, Syndromic 6	Low-set ears, Hearing impairment, Macrotia, Uplifted earlobe, Failure to thrive, Posteriorly rota...	OMIM:607932
Brucellosis	Granuloma, Pericarditis, Intrarenal abscess, Leukopenia, Splenomegaly, Myocarditis, Transient isc...	ORPHA:1304
Juvenile Sialidosis Type 2	Abnormal form of the vertebral bodies, Gingival overgrowth, Low-set ears, Protruding tongue, Hear...	ORPHA:93399
Native American Myopathy	Conductive hearing impairment	ORPHA:168572
Oculocerebrorenal Syndrome Of Lowe	Cheilitis, Dental crowding, Everted lower lip vermilion, Tooth agenesis, Joint stiffness, Death i...	ORPHA:534
Townes-Brocks Syndrome 2	Hypospadias, Rectovaginal fistula, Vesicoureteral reflux, Bifid uterus, Crossed fused renal ectopia	OMIM:617466
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Macrocytic anemia, Hyperuricemia, Hyponatremia, Hypercalcemia, Eosinophilia, H...	ORPHA:199299
Angelman Syndrome Due To A Point Mutation	Mandibular prognathia, Widely spaced teeth, Wide mouth, Protruding tongue	ORPHA:411511
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Hypoventilation, Urinary incontinence, Gastroesophageal reflux, Ineffective esophageal peristalsi...	OMIM:619482
Plummer-Vinson Syndrome	Cheilitis, Glossitis, Intra-oral hyperpigmentation, Narrow mouth, Esophageal web, Tongue atrophy	ORPHA:54028
X-Linked Intellectual Disability, Cantagrel Type	Motor stereotypy	ORPHA:85277
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Hyperactivity, Impulsivity, Head titubation, Ataxia, Bruxism, Aggressive behavior, Agitation, Hyp...	OMIM:619475
Hardikar Syndrome	Hematemesis, Intrahepatic bile duct dilatation, Hypertension, Cholestasis, Prolonged neonatal jau...	OMIM:301068
Mucolipidosis Type Ii	Sensorineural hearing impairment, Conductive hearing impairment, Otitis media	ORPHA:576
Ellis Van Creveld Syndrome	Epispadias, Thin vermilion border, Acute leukemia, Renal hypoplasia/aplasia, Hydroureter, Hypospa...	ORPHA:289
Cockayne Syndrome B	Optic atrophy, Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal pi...	OMIM:133540
Multiple Endocrine Neoplasia Type 2	Kyphoscoliosis, Elevated urinary vanillylmandelic acid, Pheochromocytoma, Elevated urinary epinep...	ORPHA:653
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Anal fissure, Narrow mouth, Abnormal esophagus morphology, Ankyloglossia, Carious teeth, Flexion ...	ORPHA:89842
X-Linked Acrogigantism	Delayed puberty, Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Increased...	ORPHA:300373
Pheochromocytoma	Hypertensive retinopathy, Hypercalcemia	OMIM:171300
Autoimmune Lymphoproliferative Syndrome	Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity, Splenomegaly, Lymphopenia, Vasculiti...	ORPHA:3261
Cockayne Syndrome A	Optic atrophy, Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal pi...	OMIM:216400
Holoprosencephaly 2	Midface retrusion, Semilobar holoprosencephaly, Solitary median maxillary central incisor, Probos...	OMIM:157170
Lethal Acantholytic Erosive Disorder	Cardiomegaly, Cardiomyopathy, Hypovolemic shock, Impaired myocardial contractility	ORPHA:158687
Bile Acid Synthesis Defect, Congenital, 2	Jaundice, Intrahepatic cholestasis, Splenomegaly, Hepatomegaly	OMIM:235555
Craniotubular Dysplasia, Ikegawa Type	Diaphyseal dysplasia, Thick lower lip vermilion, Broad ischia, Thin bony cortex, Broad femoral ne...	OMIM:619727
Feingold Syndrome Type 1	Sensorineural hearing impairment, Conductive hearing impairment	ORPHA:391641
Hypoglossia-Hypodactylia	Adactyly, Narrow mouth, Split hand, Microglossia, Aglossia	OMIM:103300
Lynch Syndrome	Neoplasm of the stomach, Adenoma sebaceum, Neoplasm of the pancreas, Intestinal polyposis, Ovaria...	ORPHA:144
Developmental And Epileptic Encephalopathy 66	Motor stereotypy	OMIM:618067
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Limited elbow extension, Genu valgum, Broad long bone diaphyses, Broad metacarpals, Everted lower...	OMIM:301066
3Mc Syndrome 1	Hearing impairment, Conductive hearing impairment	OMIM:257920
Bile Acid Synthesis Defect, Congenital, 1	Cirrhosis, Jaundice, Intrahepatic cholestasis, Giant cell hepatitis, Hepatomegaly, Splenomegaly, ...	OMIM:607765
Testicular Agenesis	Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Urethrovagi...	ORPHA:325124
Cerebrotendinous Xanthomatosis	Optic atrophy, Decreased nerve conduction velocity, Axonal degeneration, Abnormal auditory evoked...	ORPHA:909
Hydatidiform Mole	Anemia, Enlarged uterus	ORPHA:99927
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Jaundice, Hepatomegaly, Generalized aminoaciduria, Periportal fibrosis, Ascites, Portal hypertens...	OMIM:251880
Monosomy 18Q	Sensorineural hearing impairment, Bilateral conductive hearing impairment, Macrotia	ORPHA:1600
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Optic nerve hypoplasia, Neurogenic bladder, Dysphagia, Motor stereotypy	ORPHA:572013
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Splenic cyst, Polycystic kidney dysplasia, Pancreatic hypoplasia, Cholestasis, Panc...	OMIM:610199
Abnormal Hair, Joint Laxity, And Developmental Delay	Sinus bradycardia, Mitral regurgitation, Tricuspid regurgitation	OMIM:261990
Osteopetrosis, Autosomal Recessive 7	Femur fracture, Osteopetrosis, Death in childhood, Death in infancy, Abnormal trabecular bone mor...	OMIM:612301
Supranuclear Palsy, Progressive, 2	Bradykinesia, Retrocollis, Rigidity, Dysphagia, Parkinsonism, Eyelid apraxia, Postural tremor	OMIM:609454
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hyperphosphatemia, Hypercalcemia	OMIM:617994
Fucosidosis	Hepatomegaly, Vacuolated lymphocytes, Glycopeptiduria, Splenomegaly, Cardiomegaly, Oligosaccharid...	OMIM:230000
Pitt-Hopkins-Like Syndrome 1	Hyperactivity, Ataxia, Motor stereotypy, Attention deficit hyperactivity disorder, Aggressive beh...	OMIM:610042
Smith-Mccort Dysplasia 1	Beaking of vertebral bodies, Genu valgum, Hypoplastic acetabulae, Scoliosis, Limitation of joint ...	OMIM:607326
Childhood Disintegrative Disorder	Urinary incontinence, Motor stereotypy	ORPHA:168782
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Nephroblastoma, Renal hypoplasia, Splenomegaly	OMIM:612918
Mitochondrial Complex I Deficiency, Nuclear Type 2	Apnea, Apneic episodes in infancy, Hypertrophic cardiomyopathy, Ankle clonus	OMIM:618222
Beck-Fahrner Syndrome	Cardiomegaly, Ventricular septal defect	OMIM:618798
Lipodystrophy, Congenital Generalized, Type 2	Cirrhosis, Hepatomegaly, Ventricular septal hypertrophy, Clitoral hypertrophy, Acute pancreatitis...	OMIM:269700
Microphthalmia, Syndromic 1	Recurrent otitis media, Aganglionic megacolon, Renal hypoplasia/aplasia, Hypospadias, Hydroureter...	OMIM:309800
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:618078
Viss Syndrome	Retrognathia, Recurrent joint dislocation, Kyphosis, Intestinal malrotation, Malposition of the s...	OMIM:619472
Premature Ovarian Failure 7	Gonadal dysgenesis, Clitoral hypertrophy, Hypoplasia of the uterus	OMIM:612964
Singleton-Merten Syndrome 1	Osteopenia, Hip subluxation, Genu valgum, Osteolytic defects of the phalanges of the hand, Hypopl...	OMIM:182250
Oculodentodigital Dysplasia	Conductive hearing impairment, Abnormal pinna morphology	OMIM:164200
Joubert Syndrome 6	Stage 5 chronic kidney disease, Nephronophthisis, Ataxia, Motor stereotypy	OMIM:610688
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy	OMIM:619183
Myasthenic Syndrome, Congenital, 21, Presynaptic	Knee flexion contracture, Meconium ileus, Ptosis, Apnea, Weakness of facial musculature	OMIM:617239
Hijazi-Reis Syndrome	Motor stereotypy	OMIM:301094
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal...	OMIM:607626
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urinary incontinence, Hypospadias, Small earlobe, Microtia, Pelvic kidney, Low-set ears, Grade II...	OMIM:619522
Short Qt Syndrome 3	Tachycardia, Palpitations, Shortened QT interval	OMIM:609622
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormality of the kidney, Cheilitis, Aganglionic megacolon, Hydroureter, Abnormal dental enamel ...	ORPHA:2273
Congenital Tracheal Stenosis	Abnormality of the kidney, Abnormal earlobe morphology, Respiratory distress, Meckel diverticulum...	ORPHA:141127
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Congenital diaphragmatic hernia, Cleft lip, Cleft palate	OMIM:611812
Supranuclear Palsy, Progressive, 1	Bradykinesia, Retrocollis, Tremor, Rigidity, Dysphagia, Parkinsonism, Eyelid apraxia	OMIM:601104
Cleft Palate With Or Without Ankyloglossia, X-Linked	Bifid uvula, Cleft palate, Ankyloglossia	OMIM:303400
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Recurrent sinusitis, Nasal polyposis	OMIM:620197
Late Infantile Neuronal Ceroid Lipofuscinosis	Obsessive-compulsive trait, Hyperactivity, Ataxia, Motor stereotypy, Aggressive behavior	ORPHA:168491
Immunodeficiency 47	Normocytic anemia, Cirrhosis, Hepatomegaly, Accessory spleen, Cholestasis, Tricuspid regurgitatio...	OMIM:300972
Lipodystrophy, Congenital Generalized, Type 1	Cirrhosis, Hepatomegaly, Clitoral hypertrophy, Acute pancreatitis, Cardiomyopathy, Nephrolithiasi...	OMIM:608594
Ataxia-Telangiectasia-Like Disorder 2	Congenital diaphragmatic hernia, Joint contracture	OMIM:615919
Cowden Syndrome	Colorectal polyposis, Bone cyst, High palate, Furrowed tongue, Pectus excavatum, Hamartomatous po...	ORPHA:201
Childhood Absence Epilepsy	Attention deficit hyperactivity disorder, Jerky head movements, Punding	ORPHA:64280
Acrofrontofacionasal Dysostosis 1	Optic atrophy, Mixed hearing impairment	OMIM:201180
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Craniosynostosis, Smooth tongue, Enamel hypoplasia, Distal lower limb amyotrophy, Oral mucosal bl...	ORPHA:79396
Agel Amyloidosis	Keratoconjunctivitis sicca, Facial palsy, Abnormal spleen morphology, Hearing impairment, Protein...	ORPHA:85448
Ovarian Dysgenesis 2	Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:300510
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Jerky head movements, Congenital megaureter, Hypercalciuria, Low-set ears, Renal cyst, Hearing im...	ORPHA:369837
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Hair-pulling, Nail-biting, Optic nerve hypoplasia, Polyphagia, Fixated interests, Attention defic...	OMIM:620330
Lysinuric Protein Intolerance	Hepatomegaly, Pancreatitis, Hemophagocytosis, Anemia, Oroticaciduria, Leukopenia, Splenomegaly, T...	OMIM:222700
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Prolonged neonatal jaundice, Hypogonadotropic hypogonadism, Bradycardia	ORPHA:226307
Hyper-Igd Syndrome	Lymphadenopathy, Leukocytosis, Lymphadenitis, Neutrophilia, Hepatosplenomegaly, Splenomegaly, Ele...	OMIM:260920
Hereditary Mucoepithelial Dysplasia	Gingival overgrowth, Furrowed tongue, Tracheoesophageal fistula	ORPHA:1839
Houge-Janssens Syndrome 3	Attention deficit hyperactivity disorder, Self-injurious behavior, Motor stereotypy	OMIM:618354
Carney Triad	Gastrointestinal hemorrhage, Mediastinal lymphadenopathy, Lymphadenopathy, Anemia, Hypertension, ...	ORPHA:139411
Cystic Fibrosis	Steatorrhea, Rectal prolapse, Gastroesophageal reflux, Meconium ileus, Nephrolithiasis, Nasal pol...	ORPHA:586
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Abnormal fear-induced behavior, Hypospadias, Hyperactivity, Sensorineural hearing impairment, Rec...	ORPHA:353281
Kyphoscoliotic Ehlers-Danlos Syndrome	Hearing impairment, Sensorineural hearing impairment, Conductive hearing impairment, Low-set ears	ORPHA:536545
Glycogen Storage Disease Xii	Normocytic anemia, Jaundice, Hepatomegaly, Decreased erythrocyte fructose-1,6-bisphosphate aldola...	OMIM:611881
Congenital Total Pulmonary Venous Return Anomaly	Cardiomegaly, Mixed total anomalous pulmonary venous connection, Transposition of the great arter...	ORPHA:99125
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Conductive hearing impairment, Macrotia, Calcification of the auricular cartilage	ORPHA:3042
Spinal Cord Injury	Hypercalcemia	ORPHA:90058
Common Variable Immunodeficiency	Lymphadenopathy, Vasculitis, Splenomegaly, Lymphopenia, Abnormality of the liver, Autoimmune thro...	ORPHA:1572
Acute Adrenal Insufficiency	Hyperkalemia, Normocytic anemia, Hyperuricemia, Increased circulating renin level, Hyponatremia, ...	ORPHA:95409
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Dislocated radial head, Mandibular condyle hypoplasia, Micrognathia, Hypoplasia of the premaxilla	ORPHA:2975
Congenital Sialidosis Type 2	Hydrocephalus, Gingival overgrowth, Low-set ears, Protruding tongue, Hearing impairment, Hepatosp...	ORPHA:93400
Gangliocytoma	Adrenocorticotropic hormone excess, Abnormal pituitary gland morphology, Abnormal prolactin level...	ORPHA:251937
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Clitoral hypertrophy, Precocious puberty in males, Long penis, Hypertension, Decreased testicular...	OMIM:202010
Prolactinoma	Delayed puberty, Anterior hypopituitarism, Decreased circulating ACTH concentration, Vertigo, Pit...	ORPHA:2965
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Renal salt wasting, Clitoral hypertrophy, Premature pubarche, Precocious puberty in females, Long...	ORPHA:90794
Heart Defects, Congenital, And Other Congenital Anomalies	Congenital diaphragmatic hernia, Aplasia of the left hemidiaphragm, Microcolon, Intestinal malrot...	OMIM:600001
46,Xx Sex Reversal 2	Hypoplasia of the uterus, Ovotestis, Azoospermia, Bifid scrotum, True hermaphroditism, Hypoplasia...	OMIM:278850
Thoracoabdominal Syndrome	Congenital diaphragmatic hernia, Cleft upper lip, Cleft palate	OMIM:313850
Familial Tumoral Calcinosis	Hepatomegaly, Nephrocalcinosis, Splenomegaly	ORPHA:53715
Combined Oxidative Phosphorylation Deficiency 39	Sinus bradycardia	OMIM:618397
Müllerian Aplasia And Hyperandrogenism	Renal agenesis, Hypoplasia of the uterus, Abnormality of the ovary, Abnormal vagina morphology	ORPHA:247768
Hereditary Elliptocytosis	Jaundice, Cholelithiasis, Reticulocytosis, Poikilocytosis, Prolonged neonatal jaundice, Elliptocy...	ORPHA:288
Angelman Syndrome	Widely spaced teeth, Precocious puberty in females, Mandibular prognathia, Scoliosis, Delayed men...	ORPHA:72
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Left ventricular outflow tract obstruction, Vasculitis, Transient ischemic attack, ...	ORPHA:365
Microsporidiosis	Urethritis, Adrenocortical abnormality, Myositis, Glossitis, Thyroiditis, Keratoconjunctivitis, L...	ORPHA:2552
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Pancreatitis, Cardiomegaly, Splenic cyst, Patent foramen ovale, Tricuspid regurgitation, Retinal ...	OMIM:620371
Mend Syndrome	Low-set ears, Abnormal auditory evoked potentials	ORPHA:401973
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Attention deficit hyperactivity disorder, Micropenis, Motor stereotypy	OMIM:620073
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Ischemic stroke, Aortic regurgitation, Cardiomegaly, Hypertension, Transient ischemic attack, Hyp...	ORPHA:91387
Ankyloglossia With Or Without Tooth Anomalies	Supernumerary tooth, Ankyloglossia	OMIM:106280
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Absent or minimally ossified vertebral bodies, Esophageal atresia, Wide nose, Hypoplasia of penis...	ORPHA:93271
Down Syndrome	Conductive hearing impairment, Microtia, Aganglionic megacolon	OMIM:190685
46,Xy Sex Reversal 7	Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, G...	OMIM:233420
New-Onset Refractory Status Epilepticus	Abnormal head movements	ORPHA:363558
Normosmic Congenital Hypogonadotropic Hypogonadism	Hypoplasia of the uterus, Male hypogonadism, Azoospermia, Hypoplasia of the ovary, Female hypogon...	ORPHA:432
Perrault Syndrome 3	Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:614129
Premature Ovarian Failure 3	Hypoplasia of the uterus	OMIM:608996
Vipoma	Neoplasm of the pancreas, Intrahepatic cholestasis, Hepatomegaly, Normochromic anemia, Hypokalemi...	ORPHA:97282
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Optic atrophy, Optic nerve hypoplasia, Renal hypoplasia, Abdominal obesity, Micropenis	OMIM:619321
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Lymphadenopathy, Vasculitis, Leukocytosis, Pericarditis, Splenomegaly, Peritonitis, Abnormal myoc...	ORPHA:32960
Addison Disease	Hyperkalemia, Normocytic anemia, Hyperuricemia, Increased circulating renin level, Hyponatremia, ...	ORPHA:85138
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair...	OMIM:233710
Arboleda-Tham Syndrome	Chronic otitis media, Optic atrophy, Recurrent otitis media, Small earlobe, Recurrent urinary tra...	OMIM:616268
Cardiac-Valvular Ehlers-Danlos Syndrome	Severe conductive hearing impairment	ORPHA:230851
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Conductive hearing impairment, Uplifted earlobe, Overfolded helix	OMIM:280000
Primary Sclerosing Cholangitis	Congestive heart failure, Cirrhosis, Jaundice, Abnormal biliary tract morphology, Pancreatitis, C...	ORPHA:171
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Osteopenia, Joint dislocation, Dental crowding, Thin ribs, Osteoporosis, Congenital hip dislocati...	OMIM:225400
Reynolds Syndrome	Gastrointestinal hemorrhage, Jaundice, Hepatomegaly, Lip telangiectasia, Cholestasis, Biliary cir...	OMIM:613471
Bladder Exstrophy	Epispadias, Hypoplasia of penis, Recurrent urinary tract infections, Vesicoureteral reflux, Abnor...	ORPHA:93930
Abetalipoproteinemia	Congestive heart failure, Cirrhosis, Hepatomegaly, Anemia, Reticulocytosis, Cardiomegaly, Hepatic...	ORPHA:14
Developmental And Epileptic Encephalopathy 95	Cardiomegaly, Hepatomegaly, Cryptorchidism	OMIM:618143
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Delayed puberty, Osteopenia, Anemia, Anal fissure, Foot joint contracture, Renal insufficiency, I...	ORPHA:79408
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair...	OMIM:233690
Van Esch-O'Driscoll Syndrome	Microtia, Impulsivity, Attention deficit hyperactivity disorder, Motor stereotypy, Protruding ear	OMIM:301030
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Cryptorchidism, Precocious puberty, Cardiomegaly, Ventricular septal defect, Labial...	ORPHA:96191
Perrault Syndrome 6	Streak ovary, Hypoplasia of the uterus	OMIM:617565
Diamond-Blackfan Anemia 1	Failure to thrive, Renal hypoplasia	OMIM:105650
Aicardi-Goutières Syndrome	Chronic lymphatic leukemia, Neonatal alloimmune thrombocytopenia, Hypertrophic cardiomyopathy, Pr...	ORPHA:51
Satoyoshi Syndrome	Hypoplasia of the ovary, Hypoplasia of the uterus, Abnormality of the uterus, Abnormality of the ...	ORPHA:3130
Grfoma	Intrahepatic cholestasis, Neoplasm of the pancreas, Hepatomegaly, Cholelithiasis, Intermittent ja...	ORPHA:97261
Asthma, Nasal Polyps, And Aspirin Intolerance	Nasal polyposis	OMIM:208550
Ppoma	Intrahepatic cholestasis, Neoplasm of the pancreas, Hepatomegaly, Cholelithiasis, Intermittent ja...	ORPHA:97278
Myoectodermal Gonadal Dysgenesis Syndrome	Gonadal dysgenesis, Unilateral renal agenesis, Accessory spleen, Clitoral hypoplasia, Hypoplasia ...	OMIM:618419
Proteasome-Associated Autoinflammatory Syndrome 1	Congestive heart failure, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Epididym...	OMIM:256040
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Portal hypertension, Biliary hyperplasia, Sple...	ORPHA:567983
Turnpenny-Fry Syndrome	Conductive hearing impairment, Microtia, Satyr ear, Low-set ears	OMIM:618371
Somatostatinoma	Intrahepatic cholestasis, Neoplasm of the pancreas, Gallbladder dysfunction, Hepatomegaly, Hypoch...	ORPHA:97283
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome	Motor stereotypy	ORPHA:529965
Niemann-Pick Disease, Type C2	Dystonia, Ataxia, Dysphagia, Motor stereotypy	OMIM:607625
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Hypoplas...	ORPHA:90796
Odontoonychodermal Dysplasia	Conical incisor, Smooth tongue, Abnormality of primary teeth, Hypodontia, Agenesis of permanent t...	OMIM:257980
Ovarian Dysgenesis 7	Hypoplasia of the uterus	OMIM:618117
Mucoepithelial Dysplasia, Hereditary	Hematuria, Keratoconjunctivitis, Furrowed tongue, Erythematous oral mucosa, Hearing impairment, E...	OMIM:158310
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Impaired pain sensation, Decreased body weight, Motor stereotypy, Attention deficit hyperactivity...	OMIM:619005
Vater/Vacterl Association	Hypoplasia of the radius, Preaxial polydactyly, Triphalangeal thumb, Esophageal atresia, Abnormal...	OMIM:192350
Multiple Endocrine Neoplasia, Type I	Pancreatic islet cell adenoma, Hypercalcemia, Insulinoma	OMIM:131100
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Hypokalemia, Hypochloremia, Increased serum prostaglandin E2, Increased circula...	OMIM:601678
Developmental And Epileptic Encephalopathy 31B	Gingival overgrowth, Low-set ears, Protruding tongue	OMIM:620352
Sandifer Syndrome	Abnormal head movements, Torticollis	ORPHA:71272
Granulomatous Disease, Chronic, X-Linked	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Ascites, Granuloma, ...	OMIM:306400
Hartnup Disease	Glossitis, Gingivitis	ORPHA:2116
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly, Telangiectasia of the skin, Telangiectasia of the oral mucosa, Lip telangiectasia	ORPHA:79280
Ectodermal Dysplasia-Skin Fragility Syndrome	Cheilitis, Anoperineal fistula, Abnormal tongue morphology, Abnormality of the dentition, Abnorma...	ORPHA:158668
Yunis-Varon Syndrome	Absent sternal ossification, Small earlobe, Microtia, Sensorineural hearing impairment, Broad alv...	OMIM:216340
Premature Ovarian Failure 6	Streak ovary, Hypoplasia of the uterus	OMIM:612310
Hypothyroidism, Congenital, Nongoitrous, 2	Bradycardia	OMIM:218700
Vitamin D-Dependent Rickets, Type 2A	Hypocalcemic seizures, Hypophosphatemia	OMIM:277440
Johanson-Blizzard Syndrome	Intrahepatic cholestasis, Hepatomegaly, Hypocalcemia, Portal hypertension, Increased VLDL cholest...	OMIM:243800
Ovarian Dysgenesis 5	Hypoplasia of the uterus	OMIM:617690
Duplication Of The Pituitary Gland	Abnormality of masseter muscle, Abnormal pituitary gland morphology, Hearing impairment, Abnormal...	ORPHA:314621
Premature Ovarian Failure 13	Hypoplasia of the uterus	OMIM:617442
Pilarowski-Bjornsson Syndrome	Motor stereotypy	OMIM:617682
Biliary, Renal, Neurologic, And Skeletal Syndrome	Inlet ventricular septal defect, Intrahepatic bile duct dilatation, Cholestasis, Biliary cirrhosi...	OMIM:619534
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Pancreatitis, Splenomegaly	OMIM:207750
Tsh-Secreting Pituitary Adenoma	Delayed puberty, Vertigo, Female hypogonadism, Hypogonadism, Central adrenal insufficiency, Thyro...	ORPHA:91347
Ovarian Dysgenesis 9	Hypoplasia of the ovary, Hypoplasia of the uterus	OMIM:619665
Woodhouse-Sakati Syndrome	Hypoplasia of the uterus, Hypoplasia of the fallopian tube, Hypergonadotropic hypogonadism, Decre...	OMIM:241080
Methylmalonic Acidemia With Homocystinuria Type Cblf	Unilateral renal agenesis, Stomatitis, Glossitis, Megaloblastic anemia, Cleft palate, Methylmalon...	ORPHA:79284
Glucagonoma	Intrahepatic cholestasis, Neoplasm of the pancreas, Hepatomegaly, Normochromic anemia, Intermitte...	ORPHA:97280
Premature Ovarian Failure 18	Hypoplasia of the ovary, Hypoplasia of the uterus	OMIM:619203
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Abnormality of the kidney, Abnormal fear-induced behavior, Hypospadias, Hyperactivity, Sensorineu...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Abnormality of the kidney, Abnormal fear-induced behavior, Hypospadias, Hyperactivity, Sensorineu...	ORPHA:353277
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Congenital diaphragmatic hernia, Intestinal malrotation, Cervical ribs	ORPHA:2255
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Hemolytic-uremic syndrome, Neutropenia, Stomatitis, Glossitis, Megaloblastic anemia, Hydrocephalu...	ORPHA:79282
Acrodermatitis Enteropathica	Glossitis, Cheilitis, Furrowed tongue, Abnormality of the tongue	ORPHA:37
Hyperparathyroidism-Jaw Tumor Syndrome	Pancreatitis, Hypercalcemia, Hypophosphatemia, Pancreatic adenocarcinoma	ORPHA:99880
Cystic Fibrosis	Steatorrhea, Rectal prolapse, Pancreatitis, Hypercalciuria, Diarrhea, Meconium ileus, Nasal polyp...	OMIM:219700
Floating-Harbor Syndrome	Low-set ears, Conductive hearing impairment, Recurrent otitis media, Posteriorly rotated ears	OMIM:136140
Perrault Syndrome 4	Hypoplasia of the ovary, Hypoplasia of the uterus, Bicornuate uterus	OMIM:615300
Prader-Willi Syndrome Due To Translocation	Abnormal temper tantrums, Abnormality of the kidney, Head-banging, Compulsive behaviors, Skin-pic...	ORPHA:177907
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Patent foramen ovale, Ventricular septal defect, Cryptorchidism, Left ventricular noncompaction c...	OMIM:300967
Kawasaki Disease	Cheilitis, Recurrent pharyngitis, Glossitis, Arthritis, Leukocytosis, Conjunctival hyperemia, Pro...	ORPHA:2331
Parathyroid Carcinoma	Pancreatitis, Hypercalcemia, Hypophosphatemia, Pancreatic adenocarcinoma	ORPHA:143
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation te...	ORPHA:293978
Heterotaxy, Visceral, 5, Autosomal	Renal hypoplasia, Ureteral duplication, Ureteral stenosis	OMIM:270100
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypoplasia of the uterus, Hypogonadotropic hypogonadism	OMIM:614842
Nmda Receptor Encephalitis	Orthostatic tachycardia, Agitation, Orthostatic hypotension, Oculogyric crisis, Abnormal sudomoto...	ORPHA:217253
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Low-set ears, Mixed hearing impairment, Posteriorly rotated ears, Peripapillary atrophy	ORPHA:536467
Woodhouse-Sakati Syndrome	Hypoplasia of the uterus, Abnormal spermatogenesis, Hypoplasia of the fallopian tube, Decreased t...	ORPHA:3464
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Sensorineural hearing impairment, Tremor, Low-set ears, Failure to thrive, Motor stereotypy, Simp...	OMIM:612474
Ehlers-Danlos Syndrome, Vascular Type	Anemia, Arterial rupture, Cervical insufficiency, Cryptorchidism, Uterine prolapse, Cystocele, Mi...	OMIM:130050
Multiple Endocrine Neoplasia Type 4	Abnormality of pancreas physiology, Insulinoma, Hypercalcemia, Thymoma, Extrahepatic cholestasis	ORPHA:276152
Carney Complex	Ductal carcinoma in situ, Neoplasm of the stomach, Neoplasm of the pancreas, Pituitary growth hor...	ORPHA:1359
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Opisthotonus, Horseshoe kidney, Motor stereotypy	ORPHA:508533
Seckel Syndrome 7	Hypoplasia of the uterus	OMIM:614851
Satoyoshi Syndrome	Hypoplasia of the uterus	OMIM:600705
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Aplasia of the uterus, Unilateral renal agenesis, Aplasia of the vagina	ORPHA:457284
Estrogen Resistance Syndrome	Hypoplasia of the uterus, Enlarged polycystic ovaries	ORPHA:785
Pitt-Hopkins-Like Syndrome 2	Wide mouth, Protruding tongue	OMIM:614325
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset	Ankyloglossia	OMIM:619352
Combined Immunodeficiency-Enteropathy Spectrum	Autoimmune hemolytic anemia, Rectal abscess, Bloody diarrhea, Hypoplasia of the thymus, Absent ey...	ORPHA:436252
Zollinger-Ellison Syndrome	Jaundice, Hypercalcemia, Extrahepatic cholestasis	ORPHA:913
Neurooculorenal Syndrome	Sensorineural hearing impairment, Mixed hearing impairment	OMIM:620305
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Renal malrotation, Hypoplasia of the uterus	OMIM:615866
Coccidioidomycosis	Abnormal long bone morphology, Abnormal metacarpal morphology, Arthritis, Broad metatarsal, Osteo...	ORPHA:228123
Otopalatodigital Syndrome, Type Ii	Low-set ears, Conductive hearing impairment, Posteriorly rotated ears	OMIM:304120
Branchiootic Syndrome 3	Sensorineural hearing impairment	OMIM:608389
Sotos Syndrome	Chronic otitis media, Aganglionic megacolon, Hearing impairment, Conductive hearing impairment, C...	ORPHA:821
Estrogen Resistance	Polycystic ovaries, Hypoplasia of the uterus	OMIM:615363
Pachyonychia Congenita 3	Furrowed tongue, Gingivitis, Chapped lip, Oral leukoplakia	OMIM:615726
Developmental And Epileptic Encephalopathy 2	Motor stereotypy	OMIM:300672
Lowe Oculocerebrorenal Syndrome	Low-molecular-weight proteinuria, Bicarbonaturia, Hyperphosphaturia, Failure to thrive, Renal Fan...	OMIM:309000
Multiple Endocrine Neoplasia Type 1	Insulinoma, Neoplasm of the pancreas, Hypercalcemia, Thymoma	ORPHA:652
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Conductive hearing impairment, Low-set ears, Simple ear	OMIM:201750
Mowat-Wilson Syndrome	Urinary incontinence, Sensorineural hearing impairment, Ataxia, Dysphagia, Bruxism, Abnormality o...	ORPHA:2152
Plague	Abnormality of the elbow, Glossitis, Arthritis, Lymphadenitis, Hearing impairment, Inflammation o...	ORPHA:707
Popliteal Pterygium Syndrome	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,...	OMIM:119500
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Recurrent otitis media, Aganglionic megacolon, Hypospadias, Multicystic kidney dysplasia, Urinary...	ORPHA:261537
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus	ORPHA:2736
Neu-Laxova Syndrome 1	Transposition of the great arteries, Patent foramen ovale, Cryptorchidism, Renal agenesis, Bifid ...	OMIM:256520
Acromesomelic Dysplasia 3	Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:609441
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Urinary incontinence, Sensorineural hearing impairment, Dysphagia, Duplication of renal pelvis, B...	ORPHA:261552
Vascular Ehlers-Danlos Syndrome	Hypospadias, Uterine rupture, Abnormal heart valve morphology, Hypertension, Transient ischemic a...	ORPHA:286
Loeys-Dietz Syndrome	Uterine rupture, Cardiac arrest	ORPHA:60030
Limb-Mammary Syndrome	Aplasia of the uterus, Aplasia of the ovary	ORPHA:69085
Blepharophimosis, Ptosis, And Epicanthus Inversus	Hypoplasia of the uterus	OMIM:110100
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Proteinuria, Motor stereotypy	OMIM:616682
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Polycystic ovaries, Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism	ORPHA:572333

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Six1

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Six1.

No publications found that use IMPC mice or data for Six1.

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MGI Allele	Allele Type	Produced
Six1^em1(IMPC)Mbp	Whole-gene deletion	Mice, Tissue

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Six1 MGI:102780

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

Gross Morphology Embryo E14.5-E15.5

MicroCT E14.5-E15.5

X-ray

Human diseases caused by Six1 mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data