Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Pcnt MGI:102722

Gene Summary

Name:

pericentrin (kendrin)

Synonyms:

Pcnt2, m275Asp, m239Asp

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

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
abnormal vitreous body morphology	Pcnt^em1(IMPC)Mbp	HET	Early adult	7.12×10^-05
small kidney	Pcnt^em1(IMPC)Mbp	HET	Early adult	0.00
anophthalmia	Pcnt^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal testis morphology	Pcnt^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal kidney morphology	Pcnt^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal skin morphology	Pcnt^em1(IMPC)Mbp	HET	Early adult	0.00
persistence of hyaloid vascular system	Pcnt^em1(IMPC)Mbp	HET	Early adult	4.31×10^-05
microphthalmia	Pcnt^em1(IMPC)Mbp	HOM	E15.5	0.00
embryonic growth retardation	Pcnt^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal eye morphology	Pcnt^em1(IMPC)Mbp	HET	Early adult	0.00
preweaning lethality, complete penetrance	Pcnt^em1(IMPC)Mbp	HOM	Early adult	0.00
small testis	Pcnt^em1(IMPC)Mbp	HET	Early adult	0.00
cataract	Pcnt^em1(IMPC)Mbp	HET	Early adult	7.52×10^-05
decreased body length	Pcnt^em1(IMPC)Mbp	HET	Early adult	1.32×10^-06

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

Viewing: all phenotypes

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 Lateral Orientation

13 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

39 Images

View images

MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

View images

Gross Morphology Embryo E14.5-E15.5

Images

6 Images

View images

Human diseases caused by Pcnt 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 Pcnt (3 diseases)
Human diseases predicted to be associated with Pcnt (2721 diseases)

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

Disease	Matching phenotypes	Source
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Hypoplastic iliac wing, Microdontia, Tooth agenesis, Microcephaly, Abnormal cerebral vascular mor...	ORPHA:2637
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Hypoplastic iliac wing, Tibial bowing, Microdontia, Microcephaly, Short distal phalanx of finger,...	OMIM:210720
Seckel Syndrome	Clinodactyly of the 5th finger, Sandal gap, Abnormal dental enamel morphology, Tooth agenesis, Sh...	ORPHA:808

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

Disease	Matching phenotypes	Source
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Mosaic Trisomy 1	Rocker bottom foot, Microphthalmia, Broad 2nd toe, Arachnodactyly, Wide mouth, Lateral ventricle ...	ORPHA:1692
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Macrocephaly, Megalencephaly, Hydrocephalus, Polymicrogyria, Postaxial hand polydactyly, Narrow m...	ORPHA:83473
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Congenital Absence Of Upper Arm And Forearm With Hand Present	Polydactyly, Stillbirth, Abnormal hip bone morphology, Renal agenesis, Abnormal lung morphology, ...	ORPHA:294975
Trisomy 1Q	Arachnodactyly, Ventriculomegaly, Hydrops fetalis, Hydrocephalus, Increased nuchal translucency, ...	ORPHA:261344
Mosaic Trisomy 9	Rocker bottom foot, Microphthalmia, Hypoplasia of penis, Prominent occiput, Intestinal malrotatio...	ORPHA:99776
Trisomy 13	Bilateral single transverse palmar creases, Microphthalmia, Multiple renal cysts, Long philtrum, ...	ORPHA:3378
19P13.12 Microdeletion Syndrome	Sandal gap, Microcephaly, Long philtrum, Ventriculomegaly, Craniosynostosis, Intrauterine growth ...	ORPHA:254346
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Short ribs, Ascites, Microcephaly, Unilateral cleft lip, Cardiomegaly, Ventriculomegaly, Adducted...	OMIM:616897
Meckel Syndrome, Type 8	Polydactyly, Occipital encephalocele, Enlarged kidney, Microphthalmia, Encephalocele, Anophthalmi...	OMIM:613885
Thanatophoric Dysplasia	Abnormal metaphysis morphology, Abnormality of the kidney, Macrocephaly, Polyhydramnios, Abnormal...	ORPHA:2655
Microphthalmia/Coloboma 10	Microphthalmia, Anophthalmia, Microcoria, Chorioretinal coloboma, Iris coloboma	OMIM:616428
Mosaic Variegated Aneuploidy Syndrome	Microphthalmia, Intestinal polyposis, Abnormality of the upper limb, Ascites, Microcephaly, Intra...	ORPHA:1052
Infantile Sialic Acid Storage Disease	Cerebral atrophy, Congestive heart failure, Hydrops fetalis, Hydrocephalus, Gingival overgrowth, ...	OMIM:269920
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Hypoplasia of the corpus callosum, Megalencephaly, Macrocephaly, Abnormally large globe, Hydrocep...	OMIM:603387
Gombo Syndrome	Delayed puberty, Microphthalmia	OMIM:233270
Indomethacin Embryofetopathy	Abnormal renal tubule morphology, Hydrops fetalis, Multicystic kidney dysplasia, Renal insufficie...	ORPHA:1909
C Syndrome	Radial deviation of finger, Dislocated radial head, Short metacarpal, Trigonocephaly, Microcephal...	OMIM:211750
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Cataract, Cryptorchidism, Chorioretinal coloboma	OMIM:274205
Mulibrey Nanism	Dental crowding, Ascites, Cardiomegaly, Ventriculomegaly, Intrauterine growth retardation, Hydrop...	OMIM:253250
Apert Syndrome	Limited elbow movement, Megalencephaly, Brachyturricephaly, Broad thumb, Bifid uvula, Syndactyly,...	OMIM:101200
Short-Rib Thoracic Dysplasia 12	Anencephaly, Short long bone, Short ribs, Ascites, Intestinal malrotation, Intrauterine growth re...	OMIM:269860
Meckel Syndrome 14	Pneumothorax, Occipital encephalocele, Microphthalmia, Polycystic kidney dysplasia, Postaxial han...	OMIM:619879
Renal Tubular Dysgenesis	Bilateral single transverse palmar creases, Polyhydramnios, Proximal tubulopathy, Nephropathy, Mi...	ORPHA:3033
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Rhizomelic leg shortening, Occipital encephalocele, Short ribs, Abnormal 5th metacarpal morpholog...	ORPHA:397715
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Kleefstra Syndrome Due To 9Q34 Microdeletion	Hypoplasia of penis, Everted lower lip vermilion, Aortic valve stenosis, Microcephaly, Ventriculo...	ORPHA:96147
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Pallister-Hall-Like Syndrome	Occipital encephalocele, Macrocephaly, Hydrocephalus, Hypothalamic hamartoma, Postaxial hand poly...	OMIM:241800
Microphthalmia/Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Cardiomyopathy, Dilated, 2G	Left atrial enlargement, Aortic regurgitation, Paroxysmal ventricular tachycardia, Myocardial sar...	OMIM:619897
Chromosome 13Q33-Q34 Deletion Syndrome	Microphthalmia, Anencephaly, Pulmonic stenosis, Trigonocephaly, Microcephaly, Left ventricular hy...	OMIM:619148
Joubert Syndrome 14	Hypoplasia of the corpus callosum, Microphthalmia, Short philtrum, Encephalocele, Hydrocephalus, ...	OMIM:614424
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Microphthalmia, Optic nerve hypoplasia, Broad thumb, Microcephaly, Bicuspid aortic valve, Short 5...	ORPHA:508498
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Temtamy Syndrome	Microphthalmia, Aortic regurgitation, Aortic aneurysm, Dental crowding, Short 2nd toe, Hypoplasia...	OMIM:218340
Tatton-Brown-Rahman Syndrome	Thin vermilion border, Everted upper lip vermilion, Macrocephaly, Fetal distress, Encephalomalaci...	OMIM:615879
Distal 22Q11.2 Microdeletion Syndrome	Sandal gap, Microcephaly, Arachnodactyly, Premature birth, Short distal phalanx of finger, Intrau...	ORPHA:261330
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Disproportionate shortening of the tibia, Short long bone, Short ribs, Intestinal malrotation, Me...	OMIM:263520
Microphthalmia/Coloboma 5	Bilateral microphthalmos, Microphthalmia, Anophthalmia, Chorioretinal coloboma, Iris coloboma	OMIM:611638
Peroxisome Biogenesis Disorder 5A (Zellweger)	Palpebral edema, Renal cortical microcysts, Colpocephaly, Heart murmur, Intrauterine growth retar...	OMIM:614866
Congenital Heart Block	Bradycardia, Premature birth, Intrauterine growth retardation, Oligohydramnios, Vaginal birth aft...	ORPHA:60041
Microgastria-Limb Reduction Defect Syndrome	Microphthalmia, Renal hypoplasia/aplasia, Abnormal finger morphology, Oligodactyly, Tracheoesopha...	ORPHA:2538
Klippel-Trénaunay Syndrome	Congestive heart failure, Gastrointestinal hemorrhage, Macrocephaly, Hematuria, Abnormal tricuspi...	ORPHA:90308
Craniofaciofrontodigital Syndrome	Gastrointestinal hemorrhage, Dilatation of the cerebral artery, Aortic valve stenosis, Lower eyel...	ORPHA:363705
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia, Sandal gap, Microcephaly, Trigonocephaly, Ventriculomegaly, Short philtrum, Short...	OMIM:612530
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Brachycephaly, Cerebral atrophy, Dental crowding, Patent foramen ovale, High palate, Narrow mouth...	OMIM:615539
Nephronophthisis 2	Pulmonary insufficiency, Enlarged kidney, Nephronophthisis, Chronic tubulointerstitial nephritis,...	OMIM:602088
Grange Syndrome	Aortic regurgitation, Hypertension, Short palm, Syndactyly, Arterial stenosis, Patent ductus arte...	ORPHA:79094
Monosomy 18Q	Pulmonary valve defects, Left-to-right shunt, Aortic valve stenosis, Arachnodactyly, Abnormal pal...	ORPHA:1600
Hurler Syndrome	Calvarial hyperostosis, Cardiomyopathy, Flared iliac wing, Dermatan sulfate excretion in urine, M...	OMIM:607014
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Clubbing of fingers, Single transverse palmar crease, 2-3 toe syndactyly, High palate, Persistent...	ORPHA:3304
Fixed Subaortic Stenosis	Pulmonic stenosis, Abnormal heart morphology, Left ventricular hypertrophy, Bicuspid aortic valve...	ORPHA:3092
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Femoral retroversion, Cerebellar vermis hypoplasia, Unilateral wrist flexion contracture, Dolicho...	OMIM:616531
Microphthalmia/Coloboma 4	Microphthalmia	OMIM:251505
Czeizel-Losonci Syndrome	Tracheoesophageal fistula, Myelomeningocele, Split foot, 1-2 finger syndactyly, Ureteral agenesis...	ORPHA:2437
Linear Skin Defects With Multiple Congenital Anomalies 1	Microphthalmia, Microcephaly, Colpocephaly, Hypospadias, Hydrocephalus, Short stature, Cleft pala...	OMIM:309801
Loeffler Endocarditis	Left atrial enlargement, Abnormal morphology of the chordae tendinae of the mitral valve, Myocard...	ORPHA:75566
Mosaic Variegated Aneuploidy Syndrome 2	Abnormal lung lobation, Rhizomelia, Aortic regurgitation, Clinodactyly of the 5th finger, Single ...	OMIM:614114
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Osteolysis involving bones of the lower limbs, Osteolysis involving bones of the upper limbs, Pat...	ORPHA:88630
Greig Cephalopolysyndactyly Syndrome	Broad thumb, Trigonocephaly, Abnormal heart morphology, Syndactyly, Umbilical hernia, Craniosynos...	OMIM:175700
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short long bone, Flat acetabular roof, Ascites, Microdontia, Short ribs, Mesomelia, Syndactyly, S...	OMIM:614091
Zttk Syndrome	Breech presentation, Relative macrocephaly, Bifid uvula, Cervical ribs, Intrauterine growth retar...	OMIM:617140
2P15P16.1 Microdeletion Syndrome	Bilateral single transverse palmar creases, Sandal gap, Optic nerve hypoplasia, Everted lower lip...	ORPHA:261349
Mucolipidosis Ii Alpha/Beta	Enlarged kidney, Thin corpus callosum, Palpebral edema, Short long bone, Flat acetabular roof, Fl...	OMIM:252500
Lethal Congenital Contracture Syndrome 10	Narrow palate, Long philtrum, Adducted thumb, Hydrops fetalis, Fetal akinesia sequence, Short lon...	OMIM:617022
Cerebrooculofacioskeletal Syndrome 3	Rocker bottom foot, Decreased fetal movement, Microphthalmia, Microcephaly, Cleft palate, Agenesi...	OMIM:616570
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	High, narrow palate, Aortic regurgitation, Hydrocephalus, Shoulder dislocation, Arachnodactyly, F...	ORPHA:2181
Marden-Walker Syndrome	Microphthalmia, Inferior cerebellar vermis hypoplasia, Microcephaly, Arachnodactyly, Long philtru...	OMIM:248700
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies	Systolic anterior motion of the mitral valve, Reduced left ventricular endsystolic diameter, Left...	OMIM:620236
Microphthalmia, Syndromic 5	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Coloboma, Microcornea, Cataract, Cryptorchi...	OMIM:610125
15Q Overgrowth Syndrome	Turricephaly, Breech presentation, Abnormal renal morphology, Dental crowding, Abnormality of the...	ORPHA:314585
Meckel Syndrome, Type 4	Hypoplasia of the corpus callosum, Microphthalmia, Anencephaly, Encephalocele, Meningocele, Hydro...	OMIM:611134
Peroxisome Biogenesis Disorder 1A (Zellweger)	Rocker bottom foot, Breech presentation, Brachyturricephaly, Renal cortical microcysts, Hypospadi...	OMIM:214100
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia, Hypoplastic left atrium, Intestinal malrotation, Cleft palate, Pulm...	OMIM:615524
Uruguay Faciocardiomusculoskeletal Syndrome	Left atrial enlargement, Limited elbow movement, Ventricular hypertrophy, Cardiomyopathy, Disloca...	OMIM:300280
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hematuria, Hypertension, Ascites, Pulmonary arterial hypertension, Fetal pericardial effusion, No...	OMIM:617021
Congenital Heart Defects, Multiple Types, 2	Myxomatous mitral valve degeneration, Congestive heart failure, Aortic regurgitation, Aortic aneu...	OMIM:614980
Ritscher-Schinzel Syndrome 1	Brachycephaly, Single umbilical artery, Hypospadias, Prominent occiput, Hydrocephalus, Dandy-Walk...	OMIM:220210
Atrial Septal Defect 2	Atrioventricular canal defect, Dextrocardia, Aortic regurgitation, Pulmonic stenosis, Patent duct...	OMIM:607941
Noonan Syndrome 13	Microdontia, Microcephaly, Wide mouth, Mitral valve prolapse, Long philtrum, Overlapping toe, Cli...	OMIM:619087
Fryns Syndrome	Microphthalmia, Abnormal aortic arch morphology, Intestinal malrotation, Wide mouth, Long philtru...	ORPHA:2059
Left Ventricular Noncompaction 1	Congestive heart failure, Patent ductus arteriosus, Palpitations, Atrial fibrillation, Noncompact...	OMIM:604169
Joubert Syndrome 18	Occipital encephalocele, Bowing of the long bones, Camptodactyly, Renal cyst, Postaxial polydacty...	OMIM:614815
Yunis-Varon Syndrome	Rocker bottom foot, Microphthalmia, Broad secondary alveolar ridge, Abnormal finger morphology, H...	ORPHA:3472
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Thin corpus callosum, Retinal arterial tortuosity, Cerebral calcification, Everted lower lip verm...	OMIM:620371
Alg3-Cdg	Hypoplasia of the corpus callosum, Neural tube defect, Coarctation of the descending aortic arch,...	ORPHA:79321
Distal Triplication 15Q	Abnormality of the kidney, Hypoplastic aortic arch, Hydrocephalus, Polycystic kidney dysplasia, D...	ORPHA:314588
Cardiomyopathy, Familial Hypertrophic, 27	Congestive heart failure, Ventricular septal hypertrophy, Prolonged QT interval, Concentric hyper...	OMIM:618052
Congenital Varicella Syndrome	Intrauterine growth retardation, Microphthalmia	ORPHA:291
Microphthalmia, Syndromic 9	Right aortic arch with mirror image branching, Pulmonic stenosis, Severe short stature, Intrauter...	OMIM:601186
D-2-Hydroxyglutaric Aciduria 1	Glutaric aciduria, Macrocephaly, Aortic regurgitation, Cardiomyopathy, Frontal bossing, Multifoca...	OMIM:600721
Diamond-Blackfan Anemia 6	Triphalangeal thumb, Patent ductus arteriosus, Ventricular hypertrophy, Growth delay, Cleft upper...	OMIM:612561
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Enlarged kidney, Transposition of the great arteries, Atrioventricular canal defect, Dextrocardia...	OMIM:314390
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Stillbirth, Clinodactyly of the 5th finger, Hydranencephaly, Single transverse palmar crease, 2-3...	OMIM:236500
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Intestinal malrotation, Long philtrum, Overlapping toe, Long toe, Hypospadias, Short philtrum, Pa...	OMIM:618316
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Anencephaly, Short ribs, Ventriculomegaly, Accessory oral frenulum, Aplastic clavicle, Hydrops fe...	OMIM:616546
Microphthalmia/Coloboma 7	Microphthalmia	OMIM:614497
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Brachycephaly, Hypoplasia of the corpus callosum, Preaxial polydactyly, Unilateral renal agenesis...	OMIM:618142
Kallmann Syndrome-Heart Disease Syndrome	Delayed puberty, Pulmonary insufficiency, Congestive heart failure, Aortic regurgitation, Midgut ...	ORPHA:2326
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Long philtrum, Sandal gap, Aortic aneurysm, Abnormal renal morphology, Patent foramen ovale, 2-3 ...	ORPHA:477817
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Descending thoracic aorta aneurysm, Hypertension, Arachnodactyly, Descending aortic dissection, P...	ORPHA:91387
Contractural Arachnodactyly, Congenital	Wrist flexion contracture, Congenital finger flexion contractures, Arachnodactyly, Mitral valve p...	OMIM:121050
Mitochondrial Complex I Deficiency, Nuclear Type 35	Elevated urinary 4-hydroxybutyric acid, Cardiomyopathy, Pulmonary arterial hypertension, Neonatal...	OMIM:619003
Mucopolysaccharidosis, Type Vi	Cervical myelopathy, Hypoplastic iliac wing, Sinus tachycardia, Cardiomyopathy, Flared iliac wing...	OMIM:253200
Endocardial Fibroelastosis	Congestive heart failure, Abnormal palate morphology, Sandal gap, Hypoplasia of penis, Restrictiv...	ORPHA:2022
Distal Deletion 15Q	Abnormal aortic arch morphology, Microcephaly, Double outlet right ventricle with doubly committe...	ORPHA:1596
Gillessen-Kaesbach-Nishimura Syndrome	Narrow greater sciatic notch, Brachycephaly, Abnormal lung lobation, Polyhydramnios, Polycystic k...	OMIM:263210
Cardiac-Valvular Ehlers-Danlos Syndrome	Pulmonary insufficiency, Genu valgum, Aortic regurgitation, Sandal gap, Aortic root aneurysm, Abn...	ORPHA:230851
Meckel Syndrome, Type 1	Occipital encephalocele, Microphthalmia, Radial deviation of finger, Breech presentation, Anencep...	OMIM:249000
Dyssegmental Dysplasia, Silverman-Handmaker Type	Short long bone, Short ribs, Hypoplastic ischia, Microcephaly, Abnormal heart morphology, Severe ...	ORPHA:1865
Pallister-Hall Syndrome	Microphthalmia, Ectopic kidney, Oligodactyly, Hypothalamic hamartoma, Shortening of all distal ph...	OMIM:146510
Pseudo-Torch Syndrome 2	Fetal distress, Cerebellar hypoplasia, Bradycardia, Petechiae, Cerebral calcification, Polymicrog...	OMIM:617397
Familial Aortic Dissection	Mucoid extracellular matrix accumulation, Aortic regurgitation, Descending thoracic aorta aneurys...	ORPHA:229
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Atrial flutter, Hydrops fetalis, Lymphedema, Vascular ring, Patent ductus arteriosus, Overriding ...	OMIM:601927
Thanatophoric Dysplasia, Type I	Breech presentation, Disproportionate short-limb short stature, Short greater sciatic notch, Temp...	OMIM:187600
Cednik Syndrome	Congestive heart failure, Diffuse palmoplantar hyperkeratosis, Polymicrogyria, Stroke, Abnormal c...	ORPHA:66631
Congenital Disorder Of Glycosylation, Type Il	Brachycephaly, Cerebral atrophy, Global brain atrophy, Villous atrophy, Hydrops fetalis, Polycyst...	OMIM:608776
Mucopolysaccharidosis, Type Ivb	Cervical myelopathy, Thin corpus callosum, Aortic valve stenosis, Constricted iliac wing, Wide mo...	OMIM:253010
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Polydactyly, Microphthalmia, Megalencephaly, Progressive macrocephaly, Cavum septum pellucidum, H...	OMIM:602501
Aortic Aneurysm, Familial Thoracic 4	Aortic regurgitation, Coronary artery atherosclerosis, Stroke, Ascending tubular aorta aneurysm, ...	OMIM:132900
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Hypospadias, Esophageal atresia, Anophthalmia, Hypoplasia of penis, Hydrocephalus...	ORPHA:77298
Smith-Lemli-Opitz Syndrome	Renal hypoplasia/aplasia, Proximal placement of thumb, Hypoplasia of penis, Tooth agenesis, Micro...	ORPHA:818
Pseudotrisomy 13 Syndrome	Microphthalmia, Microcephaly, Tricuspid atresia, Encephalocele, Hydrocephalus, Polymicrogyria, Po...	OMIM:264480
Cardiac Valvular Dysplasia, X-Linked	Congestive heart failure, Aortic regurgitation, Short chordae tendineae of the tricuspid valve, T...	OMIM:314400
Microphthalmia/Coloboma 3	Microphthalmia	OMIM:610092
Dyrk1A-Related Intellectual Disability Syndrome	Aortic valve stenosis, Arachnodactyly, Microcephaly, Intrauterine growth retardation, Ventriculom...	ORPHA:464306
Fanconi Anemia, Complementation Group J	Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation	OMIM:609054
Congenital Disorder Of Glycosylation, Type Iif	Aortic regurgitation, Short philtrum, Subcutaneous hemorrhage, Microcephaly, Clinodactyly, Protei...	OMIM:603585
Turnpenny-Fry Syndrome	Hypoplasia of the primary teeth, Dental crowding, Relative macrocephaly, Microdontia, Microcephal...	OMIM:618371
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Rocker bottom foot, Abnormal hip bone morphology, Short long bone, Short metacarpal, Prominent ca...	ORPHA:457395
Coenzyme Q10 Deficiency, Primary, 8	Postnatal growth retardation, Hypertension, Abnormal renal corticomedullary differentiation, Pulm...	OMIM:616733
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Renal hypoplasia/aplasia, Abnormal hip bone morphology, Abnormal lower lip morphology, Vesicouret...	ORPHA:1166
3C Syndrome	Abnormal hip bone morphology, Hypoplasia of penis, Prominent occiput, Pulmonic stenosis, Aortic v...	ORPHA:7
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Hypoplasia of the corpus callosum, Secondary microcephaly, Macrocephaly, Hydrocephalus, Reduced c...	OMIM:618174
Odontochondrodysplasia 1	Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Short l...	OMIM:184260
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Narrow greater sciatic notch, Microphthalmia, Short long bone, Flat acetabular roof, Relative mac...	OMIM:616300
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Macrocephaly, Megalencephaly, Hydrocephalus, Polymicrogyria, Postaxial hand polydactyly, Syndacty...	OMIM:615938
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Bilateral single transverse palmar creases, Ectopic kidney, Hypoplastic iliac wing, Nonimmune hyd...	OMIM:235510
Noonan Syndrome 8	Polyhydramnios, Patent ductus arteriosus, Palmoplantar cutis laxa, Relative macrocephaly, Pleural...	OMIM:615355
Congenital Disorder Of Glycosylation, Type Ik	Cerebral atrophy, Thin vermilion border, Cardiomyopathy, Abnormality of the amniotic fluid, Micro...	OMIM:608540
Mosaic Trisomy 16	Meckel diverticulum, Abnormal heart morphology, Wide mouth, Syndactyly, Premature birth, Intraute...	ORPHA:1708
Thanatophoric Dysplasia Type 2	Abnormal metaphysis morphology, Abnormality of the kidney, Macrocephaly, Polyhydramnios, Encephal...	ORPHA:93274
Tarp Syndrome	Rocker bottom foot, Meckel diverticulum, Glossoptosis, Intrauterine growth retardation, Tongue no...	OMIM:311900
16Q24.3 Microdeletion Syndrome	Hypoplasia of the corpus callosum, Solitary median maxillary central incisor, Proximal placement ...	ORPHA:261250
Verheij Syndrome	Cerebral atrophy, Optic nerve hypoplasia, Truncus arteriosus, Intrauterine growth retardation, Re...	OMIM:615583
Periventricular Nodular Heterotopia	Abnormal bleeding, Aortic regurgitation, Aortic aneurysm, Abnormal heart valve morphology, Should...	ORPHA:98892
Neu-Laxova Syndrome 1	Rocker bottom foot, Microphthalmia, Radial deviation of finger, Swollen lip, Decreased fetal move...	OMIM:256520
Recombinant Chromosome 8 Syndrome	Pulmonic stenosis, Ventriculomegaly, Abnormality of the dentition, Camptodactyly, Patent ductus a...	OMIM:179613
Mucopolysaccharidosis, Type X	Genu valgum, Widely spaced teeth, Aortic regurgitation, Spatulate ribs, Open bite, Nephrolithiasi...	OMIM:619698
22Q11.2 Deletion Syndrome	Gastrointestinal hemorrhage, Corneal neovascularization, Microphthalmia, Abnormal aortic arch mor...	ORPHA:567
Asbestos Intoxication	Ground-glass opacification, Abnormal pulmonary interstitial morphology, Pleural thickening, Atele...	ORPHA:2302
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Otopalatodigital Syndrome Type 2	Glossoptosis, Flared iliac wing, Myelomeningocele, Anodontia, Abnormal cardiac septum morphology,...	ORPHA:90652
Left Ventricular Noncompaction 8	Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Dilated cardiomyopat...	OMIM:615373
Partial Atrioventricular Septal Defect	Coronary sinus enlargement, Aortic valve stenosis, Heart murmur, Bicuspid aortic valve, Abnormal ...	ORPHA:1330
Weill-Marchesani Syndrome	Pulmonic stenosis, Aortic valve stenosis, Short stature, Short thumb, Brachydactyly, Ventricular ...	ORPHA:3449
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome	Periventricular white matter hyperintensities, Congestive heart failure, Megalencephaly, Macrocep...	ORPHA:500533
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Bilateral single transverse palmar creases, Abnormal thumb morphology, Abnormal lung lobation, At...	ORPHA:1120
Noonan Syndrome 14	Limited elbow extension, High, narrow palate, Polyhydramnios, Deep palmar crease, Aortic regurgit...	OMIM:619745
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Hydrops fetalis, Hypospadias, Fetal akinesia sequence, Bradycardia, Hypertrophic cardiomyopathy, ...	OMIM:618815
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Aortic valve stenosis, Microcephaly, Flexion contracture of finger, Intrauterine growth retardati...	ORPHA:464311
Tatton-Brown-Rahman Syndrome	Supraventricular tachycardia with an accessory connection mediated pathway, Widely spaced toes, M...	ORPHA:404443
Primary Ciliary Dyskinesia	Situs inversus totalis, Transposition of the great arteries, Atelectasis, Pulmonary situs ambiguu...	ORPHA:244
Microphthalmia With Limb Anomalies	Microphthalmia, Sandal gap, Tibial bowing, 4-5 metacarpal synostosis, Hip dislocation, Interrupte...	OMIM:206920
Osteogenesis Imperfecta	Intestinal obstruction, Abnormal femur morphology, Abnormal hip bone morphology, Prominent occipu...	ORPHA:666
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Rocker bottom foot, Broad skull, Microcephaly, Heart murmur, Short 5th finger, Long toe, Hypospad...	ORPHA:163979
Global Developmental Delay With Or Without Impaired Intellectual Development	Plagiocephaly, Hypospadias, Oligodontia, Pulmonary sequestration, Short stature, Frontal bossing,...	OMIM:618330
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Anophthalmia, Microcornea, Abnormality of the hypothalamus-pituitary axis, Sclero...	ORPHA:139471
Tonne-Kalscheuer Syndrome	Widely spaced teeth, Hypospadias, Narrow mouth, Broad thumb, Short stature, Downturned corners of...	OMIM:300978
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hydrops fetalis, Polyhydramnios, Aplasia/Hypoplasia of the lungs, Short stature, Microcephaly, Li...	ORPHA:2204
Trichohepatoenteric Syndrome 1	Large placenta, Polyhydramnios, Aortic regurgitation, Galactosuria, Hypospadias, Narrow mouth, Pu...	OMIM:222470
Smith-Lemli-Opitz Syndrome	Breech presentation, Proximal placement of thumb, Broad alveolar ridges, Dental crowding, Hyperte...	OMIM:270400
Pentalogy Of Cantrell	Orofacial cleft, Abnormal tibia morphology, Hypospadias, Anencephaly, Encephalocele, Hydrocephalu...	ORPHA:1335
Truncus Arteriosus	Pulmonic stenosis, Abnormal heart morphology, Cardiomegaly, Intrauterine growth retardation, Tran...	ORPHA:3384
Cardiomyopathy, Dilated, 1Kk	Congestive heart failure, Ventricular septal hypertrophy, Atrial fibrillation, Hypertrophic cardi...	OMIM:615248
Martsolf Syndrome 1	Microphthalmia, Slender ulna, Cardiomyopathy, Short metacarpal, Microcephaly, Broad femoral neck,...	OMIM:212720
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Congestive heart failure, Global brain atrophy, Thin corpus callosum, Aortic regurgitation, Cardi...	OMIM:620066
Combined Oxidative Phosphorylation Deficiency 8	Congestive heart failure, Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy...	OMIM:614096
Chromosome 6Q24-Q25 Deletion Syndrome	Sandal gap, Prominent fingertip pads, Probst bundles, Mitral valve prolapse, Dysplastic tricuspid...	OMIM:612863
Peripartum Cardiomyopathy	Left atrial enlargement, Sinus tachycardia, Hypertension, Left ventricular hypertrophy, Heart mur...	ORPHA:563
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Congestive heart failure, 3-Methylglutaconic aciduria, Abnormal aortic valve morphology, Abnormal...	ORPHA:1194
Fibular Hemimelia	Proximal femoral focal deficiency, Abnormal lower limb bone morphology, Tibial bowing, Oligodacty...	ORPHA:93323
Emanuel Syndrome	Dental crowding, Pulmonic stenosis, Aortic valve stenosis, Intestinal malrotation, Microcephaly, ...	OMIM:609029
Holoprosencephaly	Microphthalmia, Solitary median maxillary central incisor, Hypoplasia of penis, Tooth agenesis, M...	ORPHA:2162
Mucopolysaccharidosis, Type Vii	Narrow greater sciatic notch, Cardiomyopathy, Large iliac wing, Dermatan sulfate excretion in uri...	OMIM:253220
Cardiac Lipidosis, Familial	Microcephaly, Congestive heart failure, Cardiomyopathy	OMIM:212080
Williams Syndrome	Abnormal carotid artery morphology, Hypoplasia of penis, Hypertension, Cerebral ischemia, Everted...	ORPHA:904
Cardiomyopathy, Dilated, 1M	Congestive heart failure, Reduced left ventricular ejection fraction, Impaired myocardial contrac...	OMIM:607482
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Microphthalmia, Prominent fingertip pads, Abnormal heart morphology, Long philtrum, Overlapping t...	OMIM:618494
Biliary, Renal, Neurologic, And Skeletal Syndrome	Frontotemporal cerebral atrophy, Inlet ventricular septal defect, Everted lower lip vermilion, Le...	OMIM:619534
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Repeated pneumothoraces, Microdontia, Arachnodactyly, Slender long bones with narrow diaphyses, D...	ORPHA:536467
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Femur fracture, Perisylvian polymicrogyria, Lateral ventricle dilatation, Decreased fetal movemen...	OMIM:618291
Familial Isolated Restrictive Cardiomyopathy	Left atrial enlargement, Postnatal growth retardation, Pulmonary edema, Peripheral edema, Recurre...	ORPHA:75249
Weill-Marchesani Syndrome 2	Flexion contracture of toe, Short metacarpal, Broad metatarsal, Broad skull, Pulmonic stenosis, A...	OMIM:608328
Achondrogenesis Type 1B	Disproportionate short stature, Macrocephaly, Hydrops fetalis, Polyhydramnios, Aplasia/Hypoplasia...	ORPHA:93298
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Bilateral single transverse palmar creases, Abnormality of the kidney, Brachycephaly, Widely spac...	ORPHA:459061
Developmental And Epileptic Encephalopathy 18	Polyhydramnios, Aortic regurgitation, Atrial septal defect, Thick corpus callosum, Oligohydramnios	OMIM:615476
Trisomy 17P	Hypoplasia of penis, Aortic valve stenosis, Microcephaly, Urethral valve, Wide mouth, Urethral st...	ORPHA:261290
Holt-Oram Syndrome	Abnormal coronary artery origin, Aplasia of the pectoralis major muscle, Proximal placement of th...	OMIM:142900
Fetal Parvovirus Syndrome	Hydrops fetalis, Ascites, Hypertrophic cardiomyopathy, Increased nuchal translucency, Intrauterin...	ORPHA:295
Mosaic Variegated Aneuploidy Syndrome 1	Pulmonic stenosis, Microcephaly, Long philtrum, Ventriculomegaly, Intrauterine growth retardation...	OMIM:257300
Microcephaly-Micromelia Syndrome	Microphthalmia, Oligodactyly, Microcephaly, Absent thumb, Absent radius, Craniosynostosis, Intrau...	OMIM:251230
Catel-Manzke Syndrome	Clinodactyly of the 5th finger, Glossoptosis, Oral synechia, Radial deviation of the 2nd finger, ...	ORPHA:1388
Alg9-Cdg	Narrow greater sciatic notch, Enlarged kidney, Progressive microcephaly, Short long bone, Abnorma...	ORPHA:79328
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Abnormal metaphysis morphology, Thin vermilion border, Abnormal lung lobation, Abnormal hip bone ...	ORPHA:2631
Oculocerebrocutaneous Syndrome	Hypoplasia of the corpus callosum, Microphthalmia, Anophthalmia, Dandy-Walker malformation, Orbit...	OMIM:164180
Charge Syndrome	Delayed puberty, Microphthalmia, Absent tibia, Tracheoesophageal fistula, Pulmonic stenosis, Micr...	OMIM:214800
Weill-Marchesani Syndrome 1	Narrow palate, Brachycephaly, Broad phalanges of the hand, Tooth malposition, Microspherophakia, ...	OMIM:277600
Emanuel Syndrome	Breech presentation, Dental crowding, Pulmonic stenosis, Aortic valve stenosis, Microcephaly, Bif...	ORPHA:96170
Helsmoortel-Van Der Aa Syndrome	Enlarged kidney, Sandal gap, Prominent fingertip pads, Everted lower lip vermilion, Microdontia, ...	OMIM:615873
Gm1 Gangliosidosis Type 1	Short long bone, Cardiomyopathy, Flared iliac wing, Long philtrum, T2 hypointense basal ganglia, ...	ORPHA:79255
Cranioectodermal Dysplasia 2	Hypertension, Short ribs, Everted lower lip vermilion, Microdontia, Mesomelia, Syndactyly, Broad ...	OMIM:613610
Chromosome 18Q Deletion Syndrome	Rocker bottom foot, Proximal placement of thumb, Aortic valve stenosis, Microcephaly, Bifid uvula...	OMIM:601808
Hydrolethalus	Microphthalmia, Gingival cleft, Polyhydramnios, Anencephaly, Anophthalmia, Hydrocephalus, Postaxi...	ORPHA:2189
Achondrogenesis Type 1A	Macrocephaly, Hydrops fetalis, Polyhydramnios, Micromelia, Thickened nuchal skin fold, Short palm...	ORPHA:93299
Mycophenolate Mofetil Embryopathy	Tessier cleft, Orofacial cleft, Microphthalmia, Hydrops fetalis, Ectopic kidney, Hydrocephalus, T...	ORPHA:268249
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Meckel diverticulum, Dilatation of the bladder, Tracheoesophageal fistula, Intestinal malrotation...	OMIM:265380
Mucolipidosis Type Iii Alpha/Beta	Postnatal growth retardation, Congestive heart failure, Aortic regurgitation, Keratan sulfate exc...	ORPHA:423461
Linear Skin Defects With Multiple Congenital Anomalies 2	Hypoplasia of the corpus callosum, Microphthalmia, Sandal gap, Ventricular hypertrophy, Pulmonary...	OMIM:300887
Loeys-Dietz Syndrome 5	Flexion contracture of toe, Congenital finger flexion contractures, Arachnodactyly, Bifid uvula, ...	OMIM:615582
Waardenburg Syndrome Type 3	Atelectasis, Abnormality of the upper limb, Abnormal finger morphology, Synostosis of carpal bone...	ORPHA:896
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Nphp3-Related Meckel-Like Syndrome	Polyhydramnios, Dandy-Walker malformation, Intestinal malrotation, Oligohydramnios, Pulmonary hyp...	ORPHA:3032
Atrial Septal Defect, Ostium Primum Type	Left atrial enlargement, Third heart sound, Left ventricular hypertrophy, Right ventricular dilat...	ORPHA:99106
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Microphthalmia, Renal hypoplasia/aplasia, Orofa...	ORPHA:3186
Congenitally Corrected Transposition Of The Great Arteries	Mesocardia, Bradycardia, Pulmonic stenosis, Arrhythmia, Abnormal heart morphology, Discordant atr...	ORPHA:216694
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Everted lower lip vermilion, Microcephaly, Long philtrum, Ventriculomegaly, Short distal phalanx ...	OMIM:220500
Syndactyly Type 2	Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Mesoaxial polydactyly, Sandal gap...	ORPHA:93403
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Hypoplasia of the radius, Prominent occiput, Relative macrocephaly, Short ribs, Hypoplastic ilia,...	OMIM:617895
Cardiomyopathy, Familial Hypertrophic, 15	Congestive heart failure, Hyperdynamic left ventricular ejection fraction, Endocardial fibrosis, ...	OMIM:613255
9Q31.1Q31.3 Microdeletion Syndrome	Aortic regurgitation, Short clavicles, Short stature, Renovascular hypertension, Bicuspid aortic ...	ORPHA:401923
Meier-Gorlin Syndrome 7	Dislocated radial head, Progressive microcephaly, Clubbing, Craniosynostosis, Second degree atrio...	OMIM:617063
Diamond-Blackfan Anemia 21	Genu valgum, Cubitus valgus, Aortic regurgitation, Sandal gap, Clinodactyly of the thumb, Narrow ...	OMIM:620072
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Enlarged kidney, Cerebral calcification, Abnormal heart morphology, Deep palmar crease, Hydroceph...	ORPHA:505248
Carpenter Syndrome 1	Flared iliac wing, Agenesis of permanent teeth, Pulmonic stenosis, Duplication of the proximal ph...	OMIM:201000
Congenital Pulmonary Lymphangiectasia	Congestive heart failure, Hydrops fetalis, Chylopericardium, Pleural effusion, Ascites, Pulmonary...	ORPHA:2414
Transaldolase Deficiency	Abnormality of the kidney, Hydrops fetalis, Coarctation of aorta, Edema, Atrial septal defect, Bi...	ORPHA:101028
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Optic nerve hypoplasia, Relative macrocephaly, Pulmonic stenosis, Bifid uvula, Long philtrum, Cra...	OMIM:617506
Ehlers-Danlos Syndrome, Cardiac Valvular Type	Aortic regurgitation, Calcaneovalgus deformity, Mitral valve prolapse, Bruising susceptibility, M...	OMIM:225320
Nanophthalmos 4	Microphthalmia	OMIM:615972
Microcephaly-Cardiomyopathy Syndrome	High, narrow palate, Clinodactyly of the 5th finger, Sandal gap, Short stature, Microcephaly, Int...	ORPHA:2515
Adams-Oliver Syndrome 4	Microphthalmia, Absent middle phalanx of the 3rd toe, Aplasia of the distal phalanges of the toes...	OMIM:615297
Bardet-Biedl Syndrome 16	Polydactyly, Recurrent respiratory infections, Bronchiolitis, Renal cyst, Renal agenesis, Short s...	OMIM:615993
1Q21.1 Microdeletion Syndrome	Microphthalmia, Broad thumb, Microcephaly, Intrauterine growth retardation, Long philtrum, Abnorm...	ORPHA:250989
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Perianal abscess, Pulmonic stenosis, Broad thumb, Microcephaly, Clinodactyly, Pulmonary arterial ...	OMIM:612541
Cardiomyopathy, Dilated, 2A	Congestive heart failure, Cardiomyocyte hypertrophy, Myofiber disarray, Increased left ventricula...	OMIM:611880
Arterial Calcification, Generalized, Of Infancy, 2	Congestive heart failure, Coronary artery calcification, Reduced left ventricular ejection fracti...	OMIM:614473
Marfan Syndrome	Limited elbow movement, Dental crowding, Aortic tortuosity, Arterial dissection, Arachnodactyly, ...	ORPHA:558
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Abnormal metaphysis morphology, Microphthalmia, Rhizomelia, Proximal placement of thumb, Short ph...	ORPHA:93267
Craniofacial Dyssynostosis With Short Stature	Brachycephaly, Hypoplasia of the corpus callosum, Hypospadias, Hydrocephalus, Brachyturricephaly,...	OMIM:218350
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Aortic regurgitation, Reduced left ventricular ejection fraction, Tricuspid regurgitation, Hypert...	OMIM:616501
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Secondary microcephaly, Left ventricular systolic dysfunction, Patent foramen ovale, Tricuspid re...	OMIM:619167
Diabetic Embryopathy	Single umbilical artery, Transposition of the great arteries, Ureteral duplication, Renal hypopla...	ORPHA:1926
Walker-Warburg Syndrome	Microphthalmia, Abnormal cortical gyration, Macrocephaly, Anophthalmia, Hypoplasia of penis, Hydr...	ORPHA:899
Baraitser-Winter Syndrome 1	Postnatal growth retardation, Long philtrum, Microphthalmia, Orofacial cleft, Microcephaly, Lisse...	OMIM:243310
Goldberg-Shprintzen Syndrome	Hypoplasia of the corpus callosum, Aganglionic megacolon, Clinodactyly of the 5th finger, Aortic ...	OMIM:609460
Gm1 Gangliosidosis	Cardiomyopathy, Abnormal heart morphology, Premature birth, Long philtrum, Abnormal epiphysis mor...	ORPHA:354
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Arteriovenous malformation, Abnormal hip bone morphology, Abnormal aortic arch morphology, Narrow...	ORPHA:1110
Fontaine Progeroid Syndrome	Microphthalmia, Turricephaly, Everted lower lip vermilion, Microdontia, Microcephaly, Abnormal he...	OMIM:612289
Genitopatellar Syndrome	Delayed eruption of teeth, Hypoplastic ilia, Hypoplastic ischia, Short stature, Short palm, Hip c...	ORPHA:85201
Nanophthalmos	Microphthalmia	ORPHA:35612
Fryns Syndrome	Rocker bottom foot, Microphthalmia, Ureteral duplication, Proximal placement of thumb, Meckel div...	OMIM:229850
Mmep Syndrome	Orofacial cleft, Microphthalmia, Triphalangeal thumb, Split foot, Microcephaly, Ventricular septa...	ORPHA:3434
Renal-Hepatic-Pancreatic Dysplasia 2	Abnormal lung lobation, Situs inversus totalis, Enlarged kidney, Stillbirth, Talipes equinovarus,...	OMIM:615415
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Clinodactyly of the 2nd finger, Flat acetabular roof, Long philtrum, Ventriculomegaly, Patent for...	OMIM:618870
Boomerang Dysplasia	Abnormal femur morphology, Abnormal tibia morphology, Abnormal metacarpal morphology, Hydrops fet...	ORPHA:1263
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Thanatophoric Dysplasia Type 1	Short greater sciatic notch, Femoral bowing, Ventriculomegaly, Lethal short-limbed short stature,...	ORPHA:1860
Chronic Atrial And Intestinal Dysrhythmia	Left atrial enlargement, Sick sinus syndrome, Atrial flutter, Intestinal pseudo-obstruction, Brad...	OMIM:616201
Serkal Syndrome	Orofacial cleft, Hypospadias, Ventricular septal defect, Pulmonic stenosis, Renal agenesis, Growt...	ORPHA:139466
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Short philtrum, Aortic root aneurysm, Camptodactyly, Arachnodactyly, Open mouth, Atrial septal de...	OMIM:301039
Cardiomyopathy, Dilated, 1R	Congestive heart failure, Restrictive cardiomyopathy, Ventricular arrhythmia, Cardiomyocyte hyper...	OMIM:613424
Mucopolysaccharidosis, Type Ii	Congestive heart failure, Thick lower lip vermilion, Widely spaced teeth, Macrocephaly, Intestina...	OMIM:309900
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal QRS complex, Abnormality of blood circulation, Abnormal aortic arch morphology, Abnormal...	ORPHA:860
Myopathy, Centronuclear, 5	High palate, Narrow mouth, Hip contracture, Bifid uvula, Dilated cardiomyopathy, Mitral regurgita...	OMIM:615959
Arterial Tortuosity Syndrome	Ischemic stroke, Aortic regurgitation, Aortic root aneurysm, Hypertension, Ventricular hypertroph...	OMIM:208050
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Left-to-right shunt, Abnormal heart morphology, Overlapping toe, Ventriculomegaly, Abnormality of...	ORPHA:363444
Cornelia De Lange Syndrome 2	Postnatal growth retardation, Limited elbow movement, Brachycephaly, Proximal placement of thumb,...	OMIM:300590
Mucolipidosis Iii Alpha/Beta	Carpal bone hypoplasia, Aortic regurgitation, Short long bone, Cardiomyopathy, Split hand, Shallo...	OMIM:252600
Campomelia, Cumming Type	Hydrops fetalis, Multicystic kidney dysplasia, Abnormal intestine morphology, Lymphedema, Bowing ...	ORPHA:1318
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Bilateral single transverse palmar creases, Multiple carpal ossification centers, Breech presenta...	OMIM:143095
Neuraminidase Deficiency	Hydrops fetalis, Epiphyseal stippling, Bone-marrow foam cells, Cardiomyopathy, Ascites, Short sta...	OMIM:256550
Hamamy Syndrome	Everted lower lip vermilion, Wide mouth, Syndactyly, Prolonged QRS complex, Long philtrum, Cranio...	OMIM:611174
Intellectual Developmental Disorder, Autosomal Dominant 48	Hypoplasia of the corpus callosum, Plagiocephaly, Macrocephaly, Cerebellar hypoplasia, Hypospadia...	OMIM:617751
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia, Everted lower lip vermilion, Microcephaly, Contracture of the proximal interphala...	ORPHA:464738
Hunter-Macdonald Syndrome	Brachycephaly, Cubitus valgus, Aortic regurgitation, Hypospadias, Clinodactyly of the 5th finger,...	OMIM:611962
Scimitar Syndrome	Bronchogenic cyst, Pulmonary sequestration, Mitral atresia, Left-to-right shunt, Abnormal heart m...	ORPHA:185
Orofaciodigital Syndrome I	Radial deviation of finger, Hypertension, Hypothalamic hamartoma, Myelomeningocele, Microcephaly,...	OMIM:311200
Noonan Syndrome 10	Cubitus valgus, Patent ductus arteriosus, Palmoplantar cutis laxa, Relative macrocephaly, High pa...	OMIM:616564
Cutis Laxa, Autosomal Dominant 3	Postnatal growth retardation, Unilateral renal agenesis, Aortic regurgitation, Tortuous cerebral ...	OMIM:616603
Aortic Arch Interruption	Blood pressure substantially higher in arms than legs, Hypertension, Aortopulmonary window, Abnor...	ORPHA:2299
Thomas Syndrome	Renal hypoplasia/aplasia, Cleft upper lip, Oligohydramnios, Cleft palate, Dolichocephaly, Multicy...	ORPHA:3316
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Hypoplasia of the corpus callosum, Microphthalmia, Focal cortical dysplasia, Hydrocephalus, Cereb...	OMIM:613155
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Congestive heart failure, Abnormal thumb morphology, Atrial flutter, Abnormal atrioventricular va...	ORPHA:324410
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Intestinal malrotation, Arachnodactyly, Abnormal duodenum morphology, Mitral valve prolapse, Umbi...	OMIM:601776
Even-Plus Syndrome	Brachycephaly, Dysplastic corpus callosum, Recurrent urinary tract infections, Patent foramen ova...	OMIM:616854
Lethal Congenital Contracture Syndrome 11	Polyhydramnios, Elbow flexion contracture, Camptodactyly, Bilateral talipes equinovarus, Flexion ...	OMIM:617194
Kagami-Ogata Syndrome	Polyhydramnios, Thin ribs, Pulmonary arterial hypertension, Pulmonic stenosis, Frontal bossing, L...	OMIM:608149
Carnitine Deficiency, Systemic Primary	Congestive heart failure, Dicarboxylic aciduria, Cardiomyopathy, Dehydration, Hypertrophic cardio...	OMIM:212140
Fibrochondrogenesis 1	Narrow greater sciatic notch, Short long bone, Short ribs, Hypoplastic ischia, Dumbbell-shaped lo...	OMIM:228520
Mucolipidosis Type Ii	Cardiomyopathy, Abnormal mitral valve morphology, Left ventricular hypertrophy, Umbilical hernia,...	ORPHA:576
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Microcephaly, Colpocephaly, Intrauterine growth retardation, Ventriculomega...	OMIM:618460
Congenital Disorder Of Glycosylation, Type If	Cerebral atrophy, Thin vermilion border, Renal cortical cysts, Microcephaly, Parietal bossing, Ve...	OMIM:609180
Hypophosphatasia, Infantile	Stillbirth, Polyhydramnios, Disproportionate short-limb short stature, Hypercalciuria, Metaphysea...	OMIM:241500
Periventricular Nodular Heterotopia 1	Hypoplasia of the corpus callosum, Short finger, Thin corpus callosum, Stroke, Cerebral hemorrhag...	OMIM:300049
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Abnormality of the philtrum, Abnormality of th...	ORPHA:3268
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Hypoplasia of the radius, Clinodactyly of the 5th finger, Ectopic kidney, Aortic regurgitation, V...	ORPHA:140952
Microphthalmia With Limb Anomalies	Bilateral single transverse palmar creases, Microphthalmia, Sandal gap, Abnormality of the upper ...	ORPHA:1106
Braddock-Carey Syndrome 1	U-Shaped upper lip vermilion, Multicystic kidney dysplasia, Anteriorly placed anus, Everted lower...	OMIM:619980
Aortic Aneurysm, Familial Thoracic 12	Aortic regurgitation, Aortic root aneurysm, Ascending tubular aorta aneurysm, High palate, Sponta...	OMIM:619825
Agnathia-Otocephaly Complex	Situs inversus totalis, Polyhydramnios, Narrow mouth, Secundum atrial septal defect, Cleft palate...	OMIM:202650
Marfanoid Habitus With Situs Inversus	Situs inversus totalis, Aortic regurgitation, Aortic root aneurysm, Hyperextensibility of the fin...	OMIM:609008
Cutis Laxa, Autosomal Recessive, Type Iic	Dental crowding, Nephrocalcinosis, Mitral valve prolapse, Long philtrum, Overlapping toe, Oligohy...	OMIM:617402
Prune Belly Syndrome	Intestinal malrotation, Congenital posterior urethral valve, Oligohydramnios, Abnormality of the ...	ORPHA:2970
Structural Heart Defects And Renal Anomalies Syndrome	Tricuspid atresia, Interrupted aortic arch, Right aortic arch, Truncus arteriosus, Renal cyst, Sy...	OMIM:617478
Gm1-Gangliosidosis, Type I	Congestive heart failure, Hydrops fetalis, Abnormal heart valve morphology, Gingival overgrowth, ...	OMIM:230500
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia, Everted lower lip vermilion, Microcephaly, Ventriculomegaly, Hypospadias, Short p...	OMIM:616449
Hurler-Scheie Syndrome	Aortic regurgitation, Pulmonary arterial hypertension, Dermatan sulfate excretion in urine, Short...	OMIM:607015
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Microphthalmia, Turricephaly, Prominent occiput, Prominent fingertip pads, Microdontia, Broad thu...	OMIM:612474
Cardiac Valvular Dysplasia 1	Left atrial enlargement, Pulmonic stenosis, Mitral valve prolapse, Edema, Hypoplasia of right ven...	OMIM:212093
Cardiomyopathy, Dilated, 1L	Congestive heart failure, Reduced left ventricular ejection fraction, Reduced systolic function, ...	OMIM:606685
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Posterior lenticonus, Microphthalmia, Microcornea, Remnants of the hyaloid vascular system, Chori...	ORPHA:231736
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia, External genital hypoplasia, Retinal coloboma, Hypogonadism, Cataract, Cryptorchi...	ORPHA:363741
Acquired Von Willebrand Syndrome	Prolonged prothrombin time, Gastrointestinal hemorrhage, Hematuria, Aortic regurgitation, Melena,...	ORPHA:99147
Long-Olsen-Distelmaier Syndrome	Congestive heart failure, Macrocephaly, Cavum septum pellucidum, Microspherophakia, Optic nerve h...	OMIM:620609
Heterotaxy, Visceral, 1, X-Linked	Enlarged kidney, Posteriorly placed anus, Short long bone, Myelomeningocele, Pulmonic stenosis, C...	OMIM:306955
Multiple Acyl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Macrocephaly, Generalized aminoaciduria, Renal cortical cysts, Polycystic kidn...	OMIM:231680
Bronchopulmonary Dysplasia	Emphysema, Atelectasis, Pulmonary sequestration, Abnormal lung morphology, Right ventricular fail...	ORPHA:70589
Cardiospondylocarpofacial Syndrome	High, narrow palate, Tooth malposition, Synostosis of carpal bones, Short palm, Failure of erupti...	ORPHA:3238
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Absent toe, Short ribs, Hypoplastic pelvis, Syndactyly, Umbilical hernia, Abnormal cardiac septum...	OMIM:308050
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Rocker bottom foot, Optic nerve hypoplasia, Pulmonic stenosis, Microcephaly, Intrauterine growth ...	OMIM:301056
Primary Pulmonary Hypoplasia	Pneumothorax, Patellar hypoplasia, Dextrocardia, Ureteral stenosis, Microcephaly, Cleft palate, S...	ORPHA:2257
Combined Oxidative Phosphorylation Deficiency 17	Postnatal growth retardation, Congestive heart failure, Hypertrophic cardiomyopathy, Microcephaly...	OMIM:615440
Flna-Related X-Linked Myxomatous Valvular Dysplasia	Narrow palate, Pulmonary insufficiency, Long philtrum, Thick lower lip vermilion, Hypoplasia of t...	ORPHA:555877
Tetrasomy 5P	Postnatal growth retardation, Congestive heart failure, Macrocephaly, Clinodactyly of the 5th fin...	ORPHA:3309
Achondrogenesis	Macrocephaly, Hydrops fetalis, Polyhydramnios, Micromelia, Thickened nuchal skin fold, Frontal bo...	ORPHA:932
Histiocytoid Cardiomyopathy	Microphthalmia, Congenital aphakia, Cardiomegaly, Hydrocephalus, Cleft palate, Wolff-Parkinson-Wh...	ORPHA:137675
Fabry Disease	Delayed puberty, Abnormal femur morphology, Hypertension, Left ventricular hypertrophy, Transient...	ORPHA:324
Mucolipidosis Iii Gamma	Genu valgum, Flat capital femoral epiphysis, Aortic regurgitation, Claw hand deformity, Shoulder ...	OMIM:252605
Meconium Aspiration Syndrome	Pneumothorax, Pulmonary insufficiency, Abnormal pulmonary thoracic imaging finding, Transient pul...	ORPHA:70588
Bardet-Biedl Syndrome 10	Polydactyly, Renal insufficiency, Renal cyst	OMIM:615987
Mitral Valve Prolapse 1	High, narrow palate, High palate, Mitral regurgitation, Mitral valve prolapse	OMIM:157700
Ctcf-Related Neurodevelopmental Disorder	Sandal gap, Joint contracture of the 5th finger, Prominent fingertip pads, Microdontia, Microceph...	ORPHA:363611
Bardet-Biedl Syndrome 19	Hypoplasia of the corpus callosum, Y-shaped metacarpals, Partial atrioventricular canal defect, P...	OMIM:615996
Kleefstra Syndrome	Hypoplasia of penis, Everted lower lip vermilion, Microcephaly, Bicuspid aortic valve, Ventriculo...	ORPHA:261494
Marfan Syndrome	Dental crowding, Arachnodactyly, Equinus calcaneus, Mitral valve prolapse, Mitral annular calcifi...	OMIM:154700
Cardiac Valvular Dysplasia 2	Pulmonary insufficiency, Aortic regurgitation, Palpitations, Ascending tubular aorta aneurysm, Tr...	OMIM:620067
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Enlarged kidney, Ureteral duplication, Microcephaly, Cardiomegaly, Ventriculomegaly, Long toe, Ol...	OMIM:608836
Synpolydactyly 1	Clinodactyly of the 5th finger, 6 metacarpals, Finger syndactyly, Short middle phalanx of the 5th...	OMIM:186000
Frontonasal Dysplasia 1	Microphthalmia, Radial deviation of finger, Widely-spaced maxillary central incisors, Pectoral mu...	OMIM:136760
Shprintzen-Goldberg Syndrome	Abnormal metaphysis morphology, High, narrow palate, Abnormal aortic valve morphology, Genu valgu...	ORPHA:2462
Microphthalmia, Syndromic 2	Microphthalmia, Sandal gap, Pulmonic stenosis, Aortic valve stenosis, Microcephaly, Bifid uvula, ...	OMIM:300166
Hydrops Fetalis	Abnormality of the kidney, Polyhydramnios, Capillary leak, Lymphedema, Pleural effusion, Ascites,...	ORPHA:1041
Bresek Syndrome	Plagiocephaly, Microphthalmia, Aganglionic megacolon, Hydrocephalus, Optic nerve hypoplasia, Vesi...	ORPHA:85284
Cardiomyopathy, Dilated, 1Ff	Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume...	OMIM:613286
Crossed Polysyndactyly	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Hypoplasia of penis, Abnormality of the philt...	ORPHA:2935
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	2-4 toe cutaneous syndactyly, Aortic valve stenosis, Microcephaly, Abnormal heart morphology, Abn...	ORPHA:268261
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism	Hydrops fetalis, Polyhydramnios, Upper limb undergrowth, Nonimmune hydrops fetalis, Pulmonary hyp...	OMIM:613124
Mesoaxial Hexadactyly And Cardiac Malformation	Everted lower lip vermilion, Pulmonic stenosis, Short stature, Hand polydactyly, Patent ductus ar...	OMIM:249670
Tetrasomy 9P	Bilateral single transverse palmar creases, Abnormal number of permanent teeth, Juxtaductal coarc...	ORPHA:3310
Teebi Hypertelorism Syndrome 1	Long philtrum, Single umbilical artery, Aortic root aneurysm, Dental crowding, Short stature, Fro...	OMIM:145420
Glycogen Storage Disease Iv	Hydrops fetalis, Polyhydramnios, Bradycardia, Tubulointerstitial fibrosis, Esophageal varix, Card...	OMIM:232500
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Decreased fetal movement, Abnormal cortical gyration, Polyhydramnios, Patent foramen ovale, Prema...	OMIM:616867
Cardiomyopathy, Dilated, 1I	Congestive heart failure, Reduced left ventricular ejection fraction, Reduced systolic function, ...	OMIM:604765
Mucopolysaccharidosis Type 1	Abnormal metaphysis morphology, Congestive heart failure, Abnormal aortic valve morphology, Thick...	ORPHA:579
Cutis Laxa, Autosomal Recessive, Type Ia	Emphysema, Aortic regurgitation, Ascending tubular aorta aneurysm, Microcephaly, Arachnodactyly, ...	OMIM:219100
Meckel Syndrome, Type 10	Occipital encephalocele, Hypospadias, Anencephaly, Dandy-Walker malformation, Postaxial hand poly...	OMIM:614175
Achondrogenesis, Type Ii	Short tubular bones of the hand, Brachycephaly, Stillbirth, Hydrops fetalis, Polyhydramnios, Abno...	OMIM:200610
Meckel Syndrome	Microphthalmia, Ureteral duplication, Anencephaly, Microcephaly, Oligohydramnios, Encephalocele, ...	ORPHA:564
Peroxisome Biogenesis Disorder 6A (Zellweger)	Epiphyseal stippling, Renal cyst, Neonatal death, Colpocephaly, Pachygyria	OMIM:614870
Cardiomyopathy, Dilated, 2D	Muscular ventricular septal defect, Reduced left ventricular ejection fraction, Patent foramen ov...	OMIM:619371
Acute Interstitial Pneumonia	Ground-glass opacification, Peripheral edema, Atelectasis, Hypertension, Pleural effusion, Parenc...	ORPHA:79126
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Breech presentation, Enlarged metaphyses, Prominent occiput, Hypertension, Femoral bowing, Bifid ...	OMIM:210710
Autosomal Recessive Multiple Pterygium Syndrome	Orofacial cleft, Abnormal aortic valve morphology, Spina bifida occulta, Hypoplasia of penis, Fin...	ORPHA:2990
Tarp Syndrome	Rocker bottom foot, Glossoptosis, Abnormal duodenum morphology, Intrauterine growth retardation, ...	ORPHA:2886
Microphthalmia, Isolated 8	Microphthalmia, True anophthalmia, Anophthalmia, Retinal detachment, Optic nerve hypoplasia, Reti...	OMIM:615113
Diaphanospondylodysostosis	Absent in utero rib ossification, Enlarged kidney, Hammertoe, Talipes equinovarus, Polymicrogyria...	OMIM:608022
Cerebrooculonasal Syndrome	Solitary median maxillary central incisor, Optic nerve hypoplasia, Broad philtrum, Long philtrum,...	OMIM:605627
Polydactyly, Preaxial Ii	Opposable triphalangeal thumb, Postaxial hand polydactyly, Duplication of phalanx of hallux, Dupl...	OMIM:174500
Catel-Manzke Syndrome	Glossoptosis, Short metacarpal, Ulnar deviation of the 2nd finger, Short humerus, Bifid uvula, Um...	OMIM:616145
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Wrist swelling, Osteoarthritis of the elbow, Pleuritis, Ascites, Coxa vara, Camptodactyly of toe,...	ORPHA:2848
3P25.3 Microdeletion Syndrome	Microphthalmia, Proximal placement of thumb, Pulmonic stenosis, Broad thumb, Overlapping toe, Sho...	ORPHA:435638
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Renal insufficiency, Polycystic kidney dysplasia, Hypertension, Colonic diverticula, Mitral valve...	OMIM:173900
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Breech presentation, Prominent occiput, Microdontia, Microcephaly, Lateral ventricle dilatation, ...	OMIM:300868
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Proximal placement of thumb, Clinodactyly of the 2nd finger, Dislocated radial head, Absent toe, ...	OMIM:620663
Chromosome 3Pter-P25 Deletion Syndrome	Abnormal renal morphology, Trigonocephaly, Microcephaly, Intrauterine growth retardation, Long ph...	OMIM:613792
Loeys-Dietz Syndrome 3	Arterial tortuosity, Ventricular hypertrophy, Tortuous cerebral arteries, Aortic tortuosity, Pulm...	OMIM:613795
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Stillbirth, Dental crowding, Elbow flexion contracture, Scapular winging, Internally rotated shou...	OMIM:617468
Pierpont Syndrome	Brachycephaly, Short finger, Microphthalmia, Thin vermilion border, Deep palmar crease, Widely sp...	OMIM:602342
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Capillary Malformation-Arteriovenous Malformation	Congestive heart failure, Abnormal bleeding, High-output congestive heart failure, Arteriovenous ...	ORPHA:137667
Congenital Disorder Of Glycosylation, Type Iil	Proximal tubulopathy, Microcephaly, Intrauterine growth retardation, Ventriculomegaly, Abnormal b...	OMIM:614576
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Ureteral duplication, Long philtrum, Short distal phalanx of finger, Abnormal ilium morphology, F...	OMIM:614080
Vacterl/Vater Association	Occipital encephalocele, Ectopic kidney, Anencephaly, Hypoplasia of penis, Tracheoesophageal fist...	ORPHA:887
Alpha-Mannosidosis, Infantile Form	Umbilical hernia, Craniosynostosis, Thickened ribs, Cranial hyperostosis, Aortic regurgitation, B...	ORPHA:309282
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Hypoplasia of the corpus callosum, Microphthalmia, Sandal gap, Joint contracture of the 5th finge...	OMIM:618914
Hb Bart'S Hydrops Fetalis	Congestive heart failure, Polyhydramnios, Hydrops fetalis, Hydrocephalus, Pericarditis, Oligohydr...	ORPHA:163596
Cardiomyopathy, Dilated, 1J	Congestive heart failure, Dilated cardiomyopathy, Abnormal left ventricular function, Sudden card...	OMIM:605362
Cataract 9, Multiple Types	Microphthalmia, Microcornea, Progressive cataract, Developmental cataract, Cataract, Iris coloboma	OMIM:604219
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Narrow greater sciatic notch, Microphthalmia, Short long bone, Short ribs, Esophageal diverticulu...	OMIM:617925
Autosomal Dominant Cutis Laxa	Postnatal growth retardation, Congestive heart failure, Emphysema, Unilateral renal agenesis, Aor...	ORPHA:90348
Chondrodysplasia, Blomstrand Type	Stillbirth, Hydrops fetalis, Polyhydramnios, Flared metaphysis, Short ribs, Micromelia, Preductal...	OMIM:215045
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Secondary microcephaly, Microphthalmia, Ectopic kidney, Neonatal death, Cerebellar hypoplasia, Ve...	OMIM:613730
Myopathy, Myofibrillar, 6	Restrictive cardiomyopathy, Mitral regurgitation, Hypertrophic cardiomyopathy, Scapular winging	OMIM:612954
Cardiomyopathy, Dilated, 1Ee	Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume...	OMIM:613252
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Congestive heart failure, Bradycardia, Ventricular hypertrophy, Left ventricular hypertrophy, Inc...	OMIM:619048
Polycystic Kidney Disease 7	Hypertension, Multiple renal cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, ...	OMIM:620056
Yunis-Varon Syndrome	Bilateral single transverse palmar creases, Broad alveolar ridges, Cardiomyopathy, Flat acetabula...	OMIM:216340
Feingold Syndrome 2	Postnatal growth retardation, Secondary microcephaly, Intestinal atresia, 2-3 toe syndactyly, Sho...	OMIM:614326
Cardiomyopathy, Familial Restrictive, 6	Pulmonary insufficiency, Hydrops fetalis, Restrictive cardiomyopathy, Ascites, Tricuspid regurgit...	OMIM:619433
Raine Syndrome	Cerebral calcification, Brachyturricephaly, Microdontia, Microcephaly, Wide mouth, Hydrocephalus,...	OMIM:259775
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Microphthalmia, Arteriovenous malformation, Absent toe, Abnormality ...	ORPHA:974
Aspergillosis	Ground-glass opacification, Abnormality of the kidney, Hypersensitivity pneumonitis, Abnormal lon...	ORPHA:1163
Absence Of The Pulmonary Artery	Abnormal inferior vena cava morphology, Abnormal heart morphology, Cardiomegaly, Abnormal cardiac...	ORPHA:980
Cutis Laxa, Autosomal Recessive, Type Ic	Breech presentation, Sandal gap, Ascites, Umbilical hernia, Long philtrum, Multiple bladder diver...	OMIM:613177
ERI1-related disease	Dislocated radial head, Oligodactyly, Trigonocephaly, Abnormal heart morphology, Syndactyly, Slen...	OMIM:608739
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Hypoplasia of the corpus callosum, Plagiocephaly, Macrocephaly, Cerebellar hypoplasia, Hypospadia...	ORPHA:500159
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Hypoplasia of the corpus callosum, Microcephaly, Renal cyst, Short stature, Frontal bossing, Coar...	OMIM:617260
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Decreased fetal movement, Congestive heart failure, Patent foramen ovale, High palate, Cardiomyop...	OMIM:616866
Intellectual Developmental Disorder, Autosomal Recessive 73	Decreased fetal movement, Widely spaced teeth, Clinodactyly of the 5th finger, Single transverse ...	OMIM:619717
Fanconi Anemia, Complementation Group I	Hypoplasia of the radius, Microphthalmia, Abnormal renal morphology, Patent foramen ovale, Vesico...	OMIM:609053
Congenital Toxoplasmosis	Microphthalmia, Hydrocephalus, Cerebral calcification, Ascites, Microcephaly, Premature birth, Ca...	ORPHA:858
Multiple Pterygium Syndrome, X-Linked	Hypoplastic heart, Short finger, Polyhydramnios, Thin ribs, Cleft upper lip, Cleft palate, Pulmon...	OMIM:312150
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects	Tooth malposition, Right bundle branch block, Tapered finger, Camptodactyly, Tricuspid regurgitat...	OMIM:619576
Maternal Uniparental Disomy Of Chromosome X	Rocker bottom foot, Congestive heart failure, Thin vermilion border, Cubitus valgus, Predominantl...	ORPHA:261519
Galloway-Mowat Syndrome 7	Microcephaly, Arachnodactyly, Edema, Stage 5 chronic kidney disease, Clinodactyly, Focal segmenta...	OMIM:618348
Congenital Sialidosis Type 2	Polydactyly, Abnormality of the kidney, Macrocephaly, Hydrocephalus, Petechiae, Gingival overgrow...	ORPHA:93400
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hematemesis, Gastrointestinal hemorrhage, Muscle hemorrhage, Osteolysis involving bones of the lo...	ORPHA:464321
Focal Dermal Hypoplasia	Abnormality of the pulmonary vasculature, Microphthalmia, Renal hypoplasia/aplasia, Short ribs, H...	ORPHA:2092
Lymphangioleiomyomatosis	Pneumothorax, Gastrointestinal hemorrhage, Renal neoplasm, Hematuria, Emphysema, Atelectasis, Chy...	ORPHA:538
Fg Syndrome Type 1	Clinodactyly of the 2nd finger, Prominent occiput, Optic nerve hypoplasia, Dental crowding, Prema...	ORPHA:93932
Hadziselimovic Syndrome	Hypoplasia of the corpus callosum, Thick lower lip vermilion, Ventricular hypertrophy, High palat...	OMIM:612946
Coronary Arterial Fistula	Aortic valve stenosis, Abnormal heart morphology, Bicuspid aortic valve, Cardiomegaly, Right vent...	ORPHA:2041
Genitopalatocardiac Syndrome	Transposition of the great arteries, Hypospadias, Right aortic arch, Renal cyst, Cleft upper lip,...	OMIM:231060
Craniosynostosis, Herrmann-Opitz Type	Brachycephaly, Turricephaly, Finger syndactyly, Split hand, Abnormality of the upper urinary trac...	ORPHA:2145
Aneurysm, Intracranial Berry, 12	Internal carotid artery dissection, Subarachnoid hemorrhage, Cerebral berry aneurysm, Arterial fi...	OMIM:618734
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia, Retinal coloboma, Hypogonadism, Cataract, Cryptorchidism	OMIM:601794
Sandestig-Stefanova Syndrome	Rocker bottom foot, Bilateral single transverse palmar creases, Perimembranous ventricular septal...	OMIM:618804
Charge Syndrome	Delayed puberty, Microphthalmia, Tracheoesophageal fistula, Microcephaly, Umbilical hernia, Bifid...	ORPHA:138
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Microcephaly, Abnormal heart morphology, Intrauterine growth retardation, Hydrops fetalis, Hemoly...	ORPHA:79282
Matthew-Wood Syndrome	Annular pancreas, Microphthalmia, Aplasia/Hypoplasia of the pancreas, Anophthalmia, Vesicouretera...	ORPHA:2470
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Hypoplasia of the corpus callosum, Atelectasis, Agenesis of corpus callosum, Bronchiectasis, Liss...	OMIM:619466
Feingold Syndrome Type 2	Short stature, Microcephaly, Short middle phalanx of finger, Short thumb, Brachydactyly, Jejunal ...	ORPHA:391646
Ogden Syndrome	Left atrial enlargement, Enlarged kidney, Everted upper lip vermilion, Sandal gap, Premature vent...	OMIM:300855
Cardiomyopathy, Dilated, 1Dd	Congestive heart failure, Left ventricular systolic dysfunction, Dilated cardiomyopathy, Sudden c...	OMIM:613172
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Hypospadias, Anophthalmia, Coloboma, Microcornea, Precocious puberty, Sclerocorne...	OMIM:615877
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Congestive heart failure, Macrocephaly, Hydrocephalus	OMIM:300886
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, Short ...	OMIM:271640
Cardiomyopathy, Dilated, 1B	Congestive heart failure, Vascular dilatation, Ventricular arrhythmia, Impaired myocardial contra...	OMIM:600884
Mandibuloacral Dysplasia Progeroid Syndrome	Sandal gap, Left ventricular hypertrophy, Long philtrum, Deep palmar crease, Short philtrum, Pate...	OMIM:619127
Atrial Septal Defect, Ostium Secundum Type	Left-to-right shunt, Abnormal mitral valve morphology, Right ventricular dilatation, Supraventric...	ORPHA:99103
Congenital Syphilis	Myocarditis, Pneumonia, Large placenta, Hydrops fetalis, Purpura, Hydrocephalus, Petechiae, Tibia...	ORPHA:499009
Teebi-Shaltout Syndrome	Rocker bottom foot, Microphthalmia, Turricephaly, Ureteral stenosis, Aortic valve stenosis, Micro...	OMIM:272950
Oligomeganephronia	Abnormal nephron morphology, Decreased glomerular filtration rate, Unilateral renal agenesis, Hyp...	ORPHA:2260
Sandhoff Disease	Congestive heart failure, Recurrent respiratory infections, Macrocephaly, Cherry red spot of the ...	ORPHA:796
Distal Deletion 10Q	Inferior cerebellar vermis hypoplasia, Sandal gap, Prominent fingertip pads, Microcephaly, Premat...	ORPHA:96148
Cerebrooculonasal Syndrome	Tessier cleft, Brachycephaly, Widely spaced teeth, Solitary median maxillary central incisor, Ano...	ORPHA:66625
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Congestive heart failure, Endocardial fibrosis, Left bundle branch block, Ventricular arrhythmia,...	OMIM:601493
Jacobsen Syndrome	Aortic valve stenosis, Intestinal malrotation, Trigonocephaly, Premature birth, Abnormality of th...	ORPHA:2308
Orofaciodigital Syndrome Xvii	Polydactyly, High, narrow palate, Clubbing of fingers, Central Y-shaped metacarpal, Short stature...	OMIM:617926
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Small proximal tibial epiphyses, Broad distal phalanx of finger, Abnormal aortic arch morphology,...	ORPHA:96334
Enthesitis-Related Juvenile Idiopathic Arthritis	Abnormality of the wrist, Abnormal shoulder morphology, Aortic regurgitation, Abnormal femoral ne...	ORPHA:85438
Chromosome 6Pter-P24 Deletion Syndrome	Rocker bottom foot, Dental crowding, Umbilical hernia, Telangiectasia, Hydrocephalus, Dandy-Walke...	OMIM:612582
Neurooculocardiogenitourinary Syndrome	Secondary microcephaly, Microphthalmia, Abnormality of the palmar creases, Patent foramen ovale, ...	OMIM:618652
Isolated Right Ventricular Hypoplasia	Abnormal atrioventricular conduction, Congestive heart failure, Bidirectional shunt, Muscular ven...	ORPHA:439
Suleiman-El-Hattab Syndrome	Polydactyly, Thick lower lip vermilion, Recurrent respiratory infections, Single transverse palma...	OMIM:618950
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Bilateral single transverse palmar creases, Abnormal lung lobation, High, narrow palate, Renal hy...	ORPHA:2516
Morm Syndrome	Cataract, Retinal atrophy, Micropenis	ORPHA:75858
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Brachycephaly, Thin vermilion border, Cerebral atrophy, Turricephaly, Hypospadias, Patent ductus ...	ORPHA:171839
Platyspondylic Dysplasia, Torrance Type	Abnormal carpal morphology, Hydrops fetalis, Polyhydramnios, Disproportionate short-limb short st...	ORPHA:85166
Heart Defects-Limb Shortening Syndrome	Abnormal metaphysis morphology, Abnormal tricuspid valve morphology, Mesomelic/rhizomelic limb sh...	ORPHA:1354
14Q24.1Q24.3 Microdeletion Syndrome	Ectopic kidney, Dislocated radial head, Limited elbow extension and supination, Truncus arteriosu...	ORPHA:401935
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Optic atrophy, Microphthalmia, Hematuria, Retinal detachment, Corneal opacity, Posterior embryoto...	ORPHA:1473
Microphthalmia, Syndromic 3	Postnatal growth retardation, Hypoplasia of the corpus callosum, Microphthalmia, Hypospadias, Eso...	OMIM:206900
Cardiomyopathy, Dilated, 1Gg	Congestive heart failure, Reduced left ventricular ejection fraction, Cardiogenic shock, Dilated ...	OMIM:613642
Microcephaly-Microcornea Syndrome, Seemanova Type	Growth delay, Microphthalmia, Short stature	ORPHA:2528
Femoral-Facial Syndrome	Limited elbow movement, Aplasia/hypoplasia of the femur, Pulmonic stenosis, Short humerus, Premat...	OMIM:134780
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Perimembranous ventricular septal defect, Sandal gap, Short 2nd finger, 2-3 toe syndactyly, Cutan...	OMIM:600987
Sensorineural Deafness With Dilated Cardiomyopathy	Abnormal cardiac ventricular function, Congestive heart failure, Dilated cardiomyopathy	ORPHA:217622
Meckel Syndrome, Type 2	Polydactyly, Microphthalmia, Anencephaly, Encephalocele, Meningocele, Dandy-Walker malformation, ...	OMIM:603194
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Delayed puberty, Palpebral edema, Microcephaly, Broad philtrum, Heart murmur, Bicuspid aortic val...	OMIM:619475
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Abnormal vena cava morphology, Short metacarpal, Renal cyst, Intrauterine growth retardation, Sho...	ORPHA:166035
Syndromic Diarrhea	Villous atrophy, Gastritis, Aortic regurgitation, Polycystic kidney dysplasia, Short stature, Ren...	ORPHA:84064
Mpdu1-Cdg	Renal cortical cysts, Thin vermilion border, Ventriculomegaly, Parietal bossing	ORPHA:79323
Cardiomyopathy, Familial Hypertrophic, 26	Left atrial enlargement, Congestive heart failure, Left anterior fascicular block, Left bundle br...	OMIM:617047
Xk Aprosencephaly Syndrome	Microphthalmia, Polyhydramnios, Narrow mouth, Anal atresia, Microcephaly, Atrial septal defect, V...	ORPHA:3469
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Plagiocephaly, Slender long bone, Thin ribs, Vesicoureteral reflux, Short stature, Trigonocephaly...	OMIM:618265
Mucopolysaccharidosis-Plus Syndrome	Enlarged kidney, Cerebral calcification, Clubbing, Flared iliac wing, Recurrent bronchopulmonary ...	OMIM:617303
Aminopterin/Methotrexate Embryofetopathy	Anencephaly, Microcephaly, Mesomelia, Intrauterine growth retardation, Aplasia/Hypoplasia of the ...	ORPHA:1908
Fanconi Anemia, Complementation Group O	Hypoplasia of the radius, Proximal placement of thumb, Renal cyst, Anal atresia, Short stature, H...	OMIM:613390
Seckel Syndrome 2	Microphthalmia, Clinodactyly of the 5th finger, Hypospadias, Ectopic kidney, Microdontia, Short s...	OMIM:606744
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Secondary microcephaly, Thin vermilion border, Skull asymmetry, Hydrocephalus, Dandy-Walker malfo...	OMIM:612938
Distal 7Q11.23 Microdeletion Syndrome	Microcephaly, Atrial septal defect, Porencephalic cyst, Patent ductus arteriosus	ORPHA:254351
Atelosteogenesis, Type Ii	Stillbirth, Sandal gap, Bifid humerus, Short greater sciatic notch, Hitchhiker thumb, Flat acetab...	OMIM:256050
Trisomy 18	Bilateral single transverse palmar creases, Microphthalmia, Abnormal hip bone morphology, Anencep...	ORPHA:3380
Congenital Muscular Dystrophy, Fukuyama Type	Brachycephaly, Plagiocephaly, Aplasia/Hypoplasia of the corpus callosum, Hydrocephalus, Type II l...	ORPHA:272
Pierpont Syndrome	Brachycephaly, Short finger, Microphthalmia, Thin vermilion border, Deep palmar crease, Widely sp...	ORPHA:487825
Combined Oxidative Phosphorylation Deficiency 23	Congestive heart failure, Hypertrophic cardiomyopathy, Arrhythmia, Intrauterine growth retardatio...	OMIM:616198
Cardiomyopathy, Dilated, 1P	Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Reduced systolic function	OMIM:609909
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Left ventricular systolic dysfunction, Palmoplantar keratoderma, Polyhydramnios, Ventricular bige...	OMIM:620519
Triploidy	Macrocephaly, Polyhydramnios, Hypospadias, Hypoplasia of penis, Finger syndactyly, Non-midline cl...	ORPHA:3376
Antisynthetase Syndrome	Myocarditis, Abnormal pulmonary interstitial morphology, Aortic regurgitation, Pulmonary arterial...	ORPHA:81
Genitopalatocardiac Syndrome	Hypospadias, Hydrocephalus, Non-midline cleft of the upper lip, Postaxial hand polydactyly, Micro...	ORPHA:2075
Pentasomy X	Delayed puberty, Plagiocephaly, Clinodactyly of the 5th finger, Patent ductus arteriosus, Abnorma...	ORPHA:11
Developmental And Speech Delay Due To Sox5 Deficiency	Narrow palate, Dental crowding, 2-3 toe syndactyly, Exaggerated median tongue furrow, Frontal bos...	ORPHA:313892
Oculoauriculovertebral Spectrum With Radial Defects	Short mandibular rami, Orofacial cleft, Renal hypoplasia/aplasia, Atrioventricular canal defect, ...	ORPHA:2549
Symphalangism With Multiple Anomalies Of Hands And Feet	Finger symphalangism, Macrocephaly, Reduced proximal interphalangeal joint space, Short distal ph...	ORPHA:3246
Mitochondrial Trifunctional Protein Deficiency 2	Recurrent myoglobinuria, Myoglobinuria, Hypotension, Tricuspid regurgitation, Neonatal death, Cer...	OMIM:620300
Coenzyme Q10 Deficiency, Primary, 2	Macrocephaly, Mitral regurgitation, Aortic regurgitation, Pulmonary arterial hypertension	OMIM:614651
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Abnormal femur morphology, Clinodactyly of the 5th finger, Finger syndactyly, Abnormality of the ...	ORPHA:2141
Cardiomyopathy, Dilated, 1Hh	Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume	OMIM:613881
Hydrops Fetalis, Nonimmune	Congestive heart failure, Hydrops fetalis, Nonimmune hydrops fetalis	OMIM:236750
Meckel Syndrome, Type 6	Occipital encephalocele, Anencephaly, Talipes equinovarus, Hydrocephalus, Bilobed right lung, Apl...	OMIM:612284
Adams-Oliver Syndrome 6	Truncus arteriosus, Esophageal varix, Calvarial skull defect, Tricuspid regurgitation, Portal hyp...	OMIM:616589
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Postnatal growth retardation, Broad finger, Moyamoya phenomenon, Abnormal left ventricle morpholo...	OMIM:300845
8Q24.3 Microdeletion Syndrome	Rocker bottom foot, Gastrointestinal hemorrhage, Optic nerve hypoplasia, Abnormal heart morpholog...	ORPHA:508488
Mitochondrial Complex I Deficiency, Nuclear Type 39	Dysplastic corpus callosum, Perimembranous ventricular septal defect, Hypospadias, Hypertrophic c...	OMIM:620135
Glycogen Storage Disease Of Heart, Lethal Congenital	Enlarged kidney, Breech presentation, Bradycardia, Cardiomyopathy, Ascites, Prolonged QRS complex...	OMIM:261740
Fliedner-Zweier Syndrome	Hypoplasia of the corpus callosum, Long philtrum, Unilateral renal agenesis, Hypoplastic aortic a...	OMIM:620511
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Cerebral atrophy, Hypoplasia of the corpus callosum, Spindle-shaped finger, Genu valgum, Macrocep...	ORPHA:166024
Rhizomelic Limb Shortening With Dysmorphic Features	Plagiocephaly, Macrocephaly, Rhizomelia, Clinodactyly of the 3rd finger, Hyperextensibility of th...	OMIM:618821
Fanconi Anemia, Complementation Group B	Hypoplasia of the corpus callosum, Abnormal lung lobation, Single umbilical artery, Cerebellar hy...	OMIM:300514
Cardiomyopathy, Dilated, 1S	Congestive heart failure, Perimembranous ventricular septal defect, Single umbilical artery, Redu...	OMIM:613426
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Hypoplasia of the corpus callosum, Macrocephaly, Deep palmar crease, Aortic regurgitation, Duplic...	OMIM:607721
Fanconi Anemia	Abnormal carotid artery morphology, Microphthalmia, Renal hypoplasia/aplasia, Abnormal femur morp...	ORPHA:84
Polysyndactyly With Cardiac Malformation	Stillbirth, Polyhydramnios, Renal cyst, Duplication of phalanx of hallux, Syndactyly, Preaxial ha...	OMIM:263630
Orofaciodigital Syndrome Vi	Radial deviation of finger, Tibial bowing, Hypothalamic hamartoma, Accessory oral frenulum, Tongu...	OMIM:277170
Eng-Strom Syndrome	Short stature, Camptodactyly of finger, Brachydactyly, Intrauterine growth retardation, Ventricul...	ORPHA:1937
Tetrasomy 15Q26	Hypoplastic aortic arch, Hydrocephalus, Dandy-Walker malformation, High palate, Camptodactyly, Ar...	OMIM:614846
Pagod Syndrome	Situs inversus totalis, Renal hypoplasia/aplasia, Encephalocele, Meningocele, Abnormal aortic mor...	ORPHA:991
Focal Facial Dermal Dysplasia Type Iv	Hydrocephalus, Microcephaly, Cleft upper lip, Cleft palate, Intracranial hemorrhage	ORPHA:398189
Oculofaciocardiodental Syndrome	Microphthalmia, Solitary median maxillary central incisor, Flexion contracture of the 2nd toe, Fl...	ORPHA:2712
Sick Sinus Syndrome 2	Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P...	OMIM:163800
Thiamine-Responsive Megaloblastic Anemia Syndrome	Congestive heart failure, Stroke, Cardiac arrest, Short stature, Paroxysmal atrial tachycardia, A...	ORPHA:49827
Atrial Septal Defect, Sinus Venosus Type	Left-to-right shunt, Right ventricular dilatation, Supraventricular arrhythmia, Pulmonary arteria...	ORPHA:99105
Osteopathia Striata With Cranial Sclerosis	Flexion contracture of toe, Dental crowding, Intestinal malrotation, Arachnodactyly, Bifid uvula,...	OMIM:300373
Inverted Duplicated Chromosome 15 Syndrome	Brachycephaly, Clinodactyly of the 5th finger, Unilateral renal agenesis, Short philtrum, 2-3 toe...	ORPHA:3306
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia, Unicornuate uterus	OMIM:600776
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Brachycephaly, Congestive heart failure, Focal T2 hyperintense basal ganglia lesion, Hypertrophic...	ORPHA:70472
Familial Atrial Myxoma	Congestive heart failure, Dilatation of the cerebral artery, Vascular dilatation, Bacterial endoc...	ORPHA:615
Nephronophthisis 9	Postnatal growth retardation, Polyuria, Nephronophthisis, Renal cortical microcysts, Stage 5 chro...	OMIM:613824
Orofaciodigital Syndrome V	Sandal gap, Microcephaly, Bifid uvula, Aganglionic megacolon, Postaxial hand polydactyly, Frontal...	OMIM:174300
Brain Small Vessel Disease 2	Polymicrogyria, Porencephalic cyst, Growth delay, Schizencephaly, Intracranial hemorrhage, Ventri...	OMIM:614483
Congenital Gerbode Defect	Elevated right atrial pressure, Left-to-right shunt, Pulmonic stenosis, Constrictive pericarditis...	ORPHA:99095
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Left atrial enlargement, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Right atrial en...	OMIM:619424
Megabladder, Congenital	Atrial septal defect, Multiple glomerular cysts, Fetal megacystis, Left ventricular noncompaction...	OMIM:618719
Holt-Oram Syndrome	Broad thumb, Absent thumb, Abnormal metacarpal morphology, Patent ductus arteriosus, Radioulnar s...	ORPHA:392
Aortic Valve Disease 2	Calcification of the aorta, Aortic regurgitation, Aortic aneurysm, Patent foramen ovale, Aortic t...	OMIM:614823
Lissencephaly Syndrome, Norman-Roberts Type	Rocker bottom foot, Hypoplasia of the corpus callosum, Abnormal calvaria morphology, Prominent oc...	ORPHA:89844
Roifman Syndrome	Postnatal growth retardation, Clinodactyly of the 5th finger, Noncompaction cardiomyopathy, Singl...	OMIM:616651
Carvajal Syndrome	Congestive heart failure, Dilated cardiomyopathy, Patchy palmoplantar hyperkeratosis	ORPHA:65282
Neonatal Marfan Syndrome	Increased arm span, Tricuspid valve prolapse, High, narrow palate, Emphysema, Abnormal cardiac ve...	ORPHA:284979
3-Methylglutaconic Aciduria, Type V	Postnatal growth retardation, Congestive heart failure, 3-Methylglutaconic aciduria, Atrial septa...	OMIM:610198
Atelosteogenesis Type Ii	Sandal gap, Bilateral cleft palate, Short ribs, Short metacarpal, Short lower limbs, Dumbbell-sha...	ORPHA:56304
Spondylodysplastic Ehlers-Danlos Syndrome	Subluxation of the small joints of the hand, Abnormal femoral head morphology, Abnormal finger mo...	ORPHA:536471
Cardiomyopathy, Dilated, 1Ii	Ventricular tachycardia, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy,...	OMIM:615184
Mucopolysaccharidosis, Type Iiid	Thick lower lip vermilion, Macrocephaly, Broad alveolar ridges, Elbow flexion contracture, Asymme...	OMIM:252940
Focal Dermal Hypoplasia	Microphthalmia, Ureteral duplication, Aniridia, Short ribs, Short metacarpal, Myelomeningocele, S...	OMIM:305600
Achondroplasia	Narrow greater sciatic notch, Megalencephaly, Femoral bowing, Short ribs, Trident hand, Genu varu...	OMIM:100800
Mitral Valve Prolapse 3	Mitral regurgitation, Mitral valve prolapse	OMIM:610840
Mitral Valve Prolapse 2	Mitral regurgitation, Mitral valve prolapse	OMIM:607829
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Stress urinary incontinence, Ischemic stroke, Stroke, Hypertension, Transient ischemic attack, Ce...	ORPHA:136
8P23.1 Duplication Syndrome	Pulmonic stenosis, Hydronephrosis, Tetralogy of Fallot, Thick vermilion border, Long philtrum, To...	ORPHA:251076
Mgat2-Cdg	Abnormal bleeding, Hydrops fetalis, Patent ductus arteriosus, Reflex asystolic syncope, Dental cr...	ORPHA:79329
Meacham Syndrome	Enlarged kidney, Bicuspid aortic valve, Congenital alveolar dysplasia, Single umbilical artery, T...	OMIM:608978
Ventriculomegaly With Cystic Kidney Disease	Polyhydramnios, Tubular luminal dilatation, Vascular dilatation, Hydrocephalus, Postaxial polydac...	OMIM:219730
Aarskog-Scott Syndrome	Congestive heart failure, Long philtrum, Orofacial cleft, Clinodactyly of the 5th finger, Delayed...	ORPHA:915
Multiple Pterygium Syndrome, Lethal Type	Hypoplastic heart, Short finger, Polyhydramnios, Thin ribs, Cleft palate, Pulmonary hypoplasia, I...	OMIM:253290
Aneurysm-Osteoarthritis Syndrome	Arterial tortuosity, Arterial dissection, Pulmonic stenosis, Arachnodactyly, Abnormal heart morph...	ORPHA:284984
Neurodegeneration And Seizures Due To Copper Transport Defect	Cerebral atrophy, Pneumothorax, Glandular hypospadias, Tricuspid regurgitation, Thickened nuchal ...	OMIM:620306
Cardiomyopathy, Dilated, 1U	Congestive heart failure, Left bundle branch block, Left ventricular hypertrophy, First degree at...	OMIM:613694
Pyruvate Dehydrogenase E1-Alpha Deficiency	Cerebral atrophy, Hypoplasia of the corpus callosum, Periventricular leukomalacia, Basal ganglia ...	ORPHA:79243
Fraser Syndrome 1	Renal hypoplasia/aplasia, Dental crowding, Myelomeningocele, Microcephaly, Abnormal heart morphol...	OMIM:219000
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Long philtrum, Tricuspid valve prolapse, High, narrow palate, Plagiocephaly, Aniridia, Anophthalm...	ORPHA:1101
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Renal hypoplasia/aplasia, Hydranencephaly, Microcephaly, Camptodactyly of finger, Cerebral cortic...	ORPHA:2570
Axial Mesodermal Dysplasia Spectrum	Renal hypoplasia/aplasia, Hydrocephalus, Gingival overgrowth, Abnormal intestine morphology, Abno...	ORPHA:1834
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Thin corpus callosum, Dilation of Virchow-Robin spaces, Everted lower lip vermilion, Broad thumb,...	OMIM:619720
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Congestive heart failure, Abnormal long bone morphology, Abnormal calvaria morphology, Ubiquitin-...	ORPHA:52430
Bardet-Biedl Syndrome 4	Polydactyly, Abnormality of the kidney, Abnormality of the dentition, Renal cyst, Syndactyly, Bra...	OMIM:615982
Cerebral Cavernous Malformations	Cerebral cavernous malformation, Cerebral calcification, Intracranial hemorrhage	OMIM:116860
Mitochondrial Complex I Deficiency, Nuclear Type 30	Intrauterine growth retardation, Congestive heart failure, Premature birth, Neonatal death	OMIM:301021
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia, Hematuria, Chorioretinal coloboma, Cataract, Iris coloboma	OMIM:120433
Greig Cephalopolysyndactyly Syndrome	Macrocephaly, Craniosynostosis, Finger syndactyly, Hydrocephalus, Postaxial hand polydactyly, Bro...	ORPHA:380
Congenital Myopathy 8	Cardiomegaly, Congestive heart failure, High palate	OMIM:618654
Femoral-Facial Syndrome	Renal hypoplasia/aplasia, Long philtrum, Ventriculomegaly, Abnormal fibula morphology, Polycystic...	ORPHA:1988
Greenberg Dysplasia	Disproportionate short-limb short stature, Short long bone, Short ribs, Short metacarpal, Mesomel...	OMIM:215140
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia	ORPHA:2432
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Plagiocephaly, Polyhydramnios, Renal cortical cysts, Vesicoureteral reflux, Downturned corners of...	OMIM:618548
Renal Hypodysplasia/Aplasia 4	Bilateral renal agenesis, Pulmonary hypoplasia, Anhydramnios	OMIM:619887
Vacterl With Hydrocephalus	Hypoplasia of the radius, Microphthalmia, Renal hypoplasia/aplasia, Aqueductal stenosis, Esophage...	ORPHA:3412
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Cerebral atrophy, Microphthalmia, Short stature, Microcephaly, Hypoplasia of the pons, Simplified...	OMIM:616171
Stuve-Wiedemann Syndrome 2	Congestive heart failure, Stillbirth, Short long bone, Bowing of the long bones, Camptodactyly, P...	OMIM:619751
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Single umbilical artery, Disproportionate short-limb short stature, Hypoplasia of penis, Abnormal...	ORPHA:2772
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B	3-Methylglutaconic aciduria, Neonatal death, Pulmonary hypoplasia, Cerebellar hypoplasia	OMIM:615228
Left Ventricular Noncompaction 10	Congestive heart failure, Pulmonary arterial hypertension, Syncope, Increased left ventricular en...	OMIM:615396
Nestor-Guillermo Progeria Syndrome	Left atrial enlargement, Limited elbow movement, Thin vermilion border, Cavum septum pellucidum, ...	OMIM:614008
Renal Hypodysplasia/Aplasia 2	Bilateral renal agenesis, Pulmonary hypoplasia, Anhydramnios	OMIM:615721
Internal Carotid Absence	Subarachnoid hemorrhage, Cerebral ischemia, Dilatation of the cerebral artery	ORPHA:981
Dyssegmental Dysplasia, Silverman-Handmaker Type	Occipital encephalocele, Single umbilical artery, Disproportionate short-limb short stature, Shor...	OMIM:224410
Houge-Janssens Syndrome 2	Hypoplasia of the corpus callosum, Plagiocephaly, Unilateral renal agenesis, Hydrocephalus, Posta...	OMIM:616362
Snakebite Envenomation	Acute kidney injury, Abnormal bleeding, Stroke, Gingival bleeding, Hypotension, Cerebral ischemia...	ORPHA:449285
Schimke Immuno-Osseous Dysplasia	Abnormal femoral head morphology, Hypertension, Abnormal intestine morphology, Cerebral ischemia,...	ORPHA:1830
Marden-Walker Syndrome	Renal hypoplasia/aplasia, Microcephaly, Arachnodactyly, Bifid uvula, Severe short stature, Intrau...	ORPHA:2461
Hypogonadism, Male	Testicular atrophy, Male hypogonadism, Micropenis, Hypospadias	OMIM:241100
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Short ribs, Hypoplast...	OMIM:208500
Xeroderma Pigmentosum, Complementation Group G	Growth delay, Microphthalmia	OMIM:278780
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Ascites, Myofiber disarray, Cardiomegaly, Ventricular septal hypertrophy...	OMIM:115197
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Macrocephaly, Cubitus valgus, High palate, Short stature, Recurrent pneumonia, Mitral regurgitati...	OMIM:619750
Cardiomyopathy, Dilated, 1Z	Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death	OMIM:611879
Microphthalmia With Linear Skin Defects Syndrome	Microphthalmia, Abnormal rectum morphology, Microcephaly, Severe short stature, Mitral valve prol...	ORPHA:2556
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Polyhydramnios, Cerebellar hypoplasia, Epiphyseal stippling, Abnormal basal ganglia morphology, N...	ORPHA:86822
14Q22Q23 Microdeletion Syndrome	Bilateral single transverse palmar creases, Short 4th metacarpal, Brachycephaly, Clinodactyly of ...	ORPHA:264200
Wild Type Attr Amyloidosis	Congestive heart failure, Abnormal pulmonary interstitial morphology, Pulmonary edema, Pedal edem...	ORPHA:330001
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Meckel diverticulum, Femoral bowing, Broad thumb, Bilateral radial aplasia,...	OMIM:274000
Monosomy 18P	Brachycephaly, Microphthalmia, Short philtrum, Tooth malposition, Hypertension, Lymphedema, Short...	ORPHA:1598
Camurati-Engelmann Disease, Type 2	Delayed puberty, Hip contracture, Mitral regurgitation, Mitral valve prolapse	OMIM:606631
Chromosome 1P36 Deletion Syndrome, Proximal	Atrial septal defect, Wolff-Parkinson-White syndrome, Patent ductus arteriosus, Coronary artery f...	OMIM:619343
Autosomal Recessive Robinow Syndrome	Bilateral single transverse palmar creases, Abnormal hip bone morphology, Sandal gap, Hypoplasia ...	ORPHA:1507
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Congestive heart failure, Elbow flexion contracture, Abnormality of the shoulder girdle musculatu...	ORPHA:206546
Mirage Syndrome	Rocker bottom foot, Radial club hand, Hypospadias, Hydrocephalus, Recurrent urinary tract infecti...	OMIM:617053
Familial Isolated Dilated Cardiomyopathy	Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Edema, Dilated cardi...	ORPHA:154
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Short clavicles, Recurrent shoulder dislocation, Cardiomyopathy, Finger joint contracture, Telang...	OMIM:212112
Congenital Disorder Of Glycosylation, Type Iiy	Brachycephaly, Hip subluxation, Thin corpus callosum, Microcephaly, Cerebral cortical atrophy, Ag...	OMIM:620200
Hydrolethalus Syndrome 1	Microphthalmia, Anencephaly, Intrauterine growth retardation, Abnormal cortical gyration, Hypospa...	OMIM:236680
Chromosome 3Q13.31 Deletion Syndrome	Brachycephaly, Plagiocephaly, Proximal placement of thumb, Short philtrum, Alobar holoprosencepha...	OMIM:615433
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Thin vermilion border, Renal hypoplasia/aplasia, Polyhydramnios, Hypospadias, Sandal gap, Hypopla...	ORPHA:1046
Acrorenal-Mandibular Syndrome	Split foot, Intrauterine growth retardation, Oligohydramnios, Hip dislocation, Hypoplasia of the ...	OMIM:200980
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Scapular winging	OMIM:608099
Dural Sinus Malformation	Cerebellar hemorrhage, Macrocephaly, Vascular dilatation, Abnormal facial vein morphology, Arteri...	ORPHA:97339
Oculocerebrorenal Syndrome Of Lowe	Delayed puberty, Microphthalmia, Cheilitis, Dental crowding, Everted lower lip vermilion, Tooth a...	ORPHA:534
Fetal Trimethadione Syndrome	Bilateral single transverse palmar creases, Brachycephaly, Transposition of the great arteries, H...	ORPHA:1913
Hutchinson-Gilford Progeria Syndrome	Dental crowding, Hypertension, Ventricular hypertrophy, Relative macrocephaly, Aortic valve steno...	ORPHA:740
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Renal hypoplasia/aplasia, Abnormal renal morphology, Pulmonic stenosis, Abnormal heart morphology...	ORPHA:363700
Congenital Disorder Of Glycosylation, Type Iie	Cerebral atrophy, Congestive heart failure, Perimembranous ventricular septal defect, Hypoplasia ...	OMIM:608779
Pericardial And Diaphragmatic Defect	Meckel diverticulum, Pulmonary sequestration, Intestinal malrotation, Abnormal heart morphology, ...	ORPHA:2847
Achondrogenesis, Type Ib	Neonatal short-limb short stature, Stillbirth, Polyhydramnios, Breech presentation, Hydrops fetal...	OMIM:600972
Beckwith-Wiedemann Syndrome	Enlarged kidney, Prominent occiput, Renal cortical cysts, Dandy-Walker malformation, Placental me...	OMIM:130650
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Abnormal palate morphology, Macrocephaly, Abnormality of the dentition, Carious teeth, Dolichocep...	ORPHA:3270
Alkuraya-Kucinskas Syndrome	Edema, Ventriculomegaly, Adducted thumb, Overlapping toe, Clinodactyly, Hydrocephalus, Dandy-Walk...	OMIM:617822
Jeune Syndrome	Abnormal metaphysis morphology, Nephronophthisis, Postaxial hand polydactyly, Nephropathy, Abnorm...	ORPHA:474
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia, Cerebellar hypoplasia, Lissencephaly, Hydrocephalus, Dandy-Walker malformation, T...	OMIM:613153
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Ground-glass opacification, Atelectasis, Recurrent respiratory infections, Parenchymal consolidat...	OMIM:610978
Anophthalmia Plus Syndrome	Tessier cleft, Anophthalmia, Bilateral cleft palate, Non-midline cleft of the upper lip, Spina bi...	ORPHA:1104
Biemond Syndrome Type 2	Delayed puberty, Microphthalmia, Short stature	ORPHA:141333
Achondrogenesis, Type Ia	Turricephaly, Abnormal hand bone ossification, Short ribs, Hypoplastic ischia, Hypoplasia of the ...	OMIM:200600
Sneddon Syndrome	Arterial stenosis, Hypertension, Nephropathy, Intracranial hemorrhage	ORPHA:820
Diamond-Blackfan Anemia 1	Parietal foramina, Microcephaly, Premature birth, Absent thumb, Intrauterine growth retardation, ...	OMIM:105650
Microphthalmia/Coloboma 12	Microphthalmia, Vesicoureteral reflux, Corneal opacity, Remnants of the hyaloid vascular system, ...	OMIM:120200
Renal-Hepatic-Pancreatic Dysplasia 1	Situs inversus totalis, Enlarged kidney, Atrial septal defect, Polycystic kidney dysplasia, Dandy...	OMIM:208540
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Hypoplasia of the ulna, Brachycephaly, Cerebral atrophy, Lambdoidal craniosynostosis, Hydroureter...	OMIM:615398
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Abnormal aortic arch morphology, Abnormal descending aorta morphology, Aortopulmonary window, Lef...	ORPHA:99050
Hennekam Syndrome	Arteriovenous malformation, Ectopic kidney, Ascites, Tooth agenesis, Craniosynostosis, Hydrops fe...	ORPHA:2136
Aminopterin Syndrome Sine Aminopterin	Brachycephaly, Megalencephaly, Macrocephaly, Oligodontia, High palate, Umbilical hernia, Short st...	OMIM:600325
Atrial Standstill	Sick sinus syndrome, Congestive heart failure, Ischemic stroke, Reduced left ventricular ejection...	ORPHA:1344
Congenital Rubella Syndrome	Abnormal metaphysis morphology, Atrial septal defect, Microphthalmia, Abnormality of the pulmonar...	ORPHA:290
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the corpus callosum, Microphthalmia, Hydrocephalus, Pelvic kidney, Dandy-Walker mal...	OMIM:613001
Cornelia De Lange Syndrome 1	Ectopic kidney, Proximal placement of thumb, Dislocated radial head, Abnormal renal morphology, M...	OMIM:122470
Kaposiform Lymphangiomatosis	Abnormal ischium morphology, Enlarged kidney, Epidural hemorrhage, Abnormal femur morphology, Abn...	ORPHA:464329
Hartsfield Syndrome	Microphthalmia, Encephalocele, Non-midline cleft of the upper lip, Split hand, Lobar holoprosence...	ORPHA:2117
Warburg Micro Syndrome 1	Cerebral atrophy, Thin vermilion border, Microphthalmia, Hypoplasia of the corpus callosum, Enlar...	OMIM:600118
Craniofrontonasal Dysplasia	Brachycephaly, Orofacial cleft, Plagiocephaly, Hypoplasia of the corpus callosum, Clinodactyly of...	ORPHA:1520
Bardet-Biedl Syndrome 5	Polydactyly, Micropenis, Syndactyly, Brachydactyly	OMIM:615983
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Orofacial cleft, Renal hypoplasia/aplasia, Abno...	ORPHA:958
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Clinodactyly of the 5th toe, Proximal placement of thumb, Colpocephaly, Intrauterine growth retar...	OMIM:620113
Intellectual Disability-Spasticity-Ectrodactyly Syndrome	Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Abnormal hip bone mor...	ORPHA:1891
Sialidosis Type 2	Hydrops fetalis, Ascites, Short stature, Umbilical hernia, Nephropathy, Pedal edema	ORPHA:87876
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Orofacial cleft, Nephronophthisis, Genu valgum, Cone-shaped epiphyses of the phalanges of the han...	OMIM:615630
Galloway-Mowat Syndrome 3	Microphthalmia, Hypertension, Microcephaly, Arachnodactyly, Intrauterine growth retardation, Vent...	OMIM:617729
2Q24 Microdeletion Syndrome	Microphthalmia, Short philtrum, Bullet-shaped distal phalanx of the hallux, Camptodactyly of fing...	ORPHA:1617
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Preaxial polydactyly, Macrocephaly, Polyhydramnios, Femoral bowing, Short long bone, Short ribs, ...	OMIM:615503
Dihydropyrimidine Dehydrogenase Deficiency	Cerebral atrophy, Microphthalmia, Uraciluria, Elevated urinary dihydrothymine level, Growth delay...	OMIM:274270
Myopathy, Myofibrillar, 8	Recurrent lower respiratory tract infections, Joint contracture of the 5th finger, Scapular wingi...	OMIM:617258
C1Q Deficiency 2	Atelectasis, Recurrent lower respiratory tract infections, Oral ulcer, Vasculitis in the skin, Br...	OMIM:620321
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Limited elbow movement, Proximal placement of thumb, Microdontia, Pulmonic stenosis, Long philtru...	OMIM:610759
Laubry-Pezzi Syndrome	Elevated pulmonary artery pressure, Congestive heart failure, Bicuspid aortic valve, Perimembrano...	ORPHA:99094
Developmental Delay With Or Without Dysmorphic Facies And Autism	Microcephaly, Wide mouth, Umbilical hernia, Ventriculomegaly, 2-3 toe cutaneous syndactyly, Short...	OMIM:618454
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Brachycephaly, Flat occiput, Aplasia/Hypoplasia of the corpus callosum, Ventriculomegaly, Hyperex...	ORPHA:505237
Craniotelencephalic Dysplasia	Microphthalmia, Lissencephaly, Hydrocephalus, Septo-optic dysplasia, Microcephaly, Frontal bossin...	ORPHA:1528
Coffin-Siris Syndrome 5	Hypoplasia of the corpus callosum, Thick lower lip vermilion, Sandal gap, Short philtrum, Dandy-W...	OMIM:616938
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Brachycephaly, Long philtrum, Plagiocephaly, Genu valgum, Clinodactyly of the 5th finger, Macroce...	OMIM:619721
Simpson-Golabi-Behmel Syndrome, Type 1	Narrow greater sciatic notch, Enlarged kidney, Short greater sciatic notch, Meckel diverticulum, ...	OMIM:312870
Acrocardiofacial Syndrome	Hypoplasia of penis, Split foot, Intrauterine growth retardation, Hypospadias, Abnormal metacarpa...	ORPHA:2008
Bronchogenic Cyst	Bronchogenic cyst, Abnormal pulmonary thoracic imaging finding, Pneumonia, Atelectasis, Abnormal ...	ORPHA:2357
Alg8-Cdg	Hypoplasia of the corpus callosum, Hydrops fetalis, Ascites, Camptodactyly, Cerebral cortical atr...	ORPHA:79325
Anencephaly 2	Anencephaly, Anophthalmia, Median cleft palate, Cleft maxillary alveolar ridge, Median cleft uppe...	OMIM:619452
Abruzzo-Erickson Syndrome	Abnormal palate morphology, Hypospadias, Abnormal localization of kidney, Short stature, Cleft pa...	ORPHA:921
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Unilateral renal agenesis, Hydranencephaly, Truncus arteriosus, Microcephaly, Cleft palate, Short...	OMIM:601355
Bohring-Opitz Syndrome	Dislocated radial head, Broad alveolar ridges, Bilateral cleft palate, Intestinal malrotation, Tr...	OMIM:605039
Temple-Baraitser Syndrome	Long philtrum, Pseudoepiphysis of the thumb, Proximal placement of thumb, Pulmonic stenosis, Broa...	OMIM:611816
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Congestive heart failure, Fourth heart sound, Right axis deviation, Elevated jugular venous press...	OMIM:255160
15Q11Q13 Microduplication Syndrome	Finger syndactyly, Macrocephaly, Clinodactyly of the 5th finger, Short stature	ORPHA:238446
Stuve-Wiedemann Syndrome 1	Flexion contracture of toe, Short long bone, Femoral bowing, Clubbing, Tibial bowing, Intrauterin...	OMIM:601559
Autosomal Recessive Amelia	Orofacial cleft, Polyhydramnios, Hypoplasia of penis, Non-midline cleft of the upper lip, Amelia ...	ORPHA:1027
Optic Atrophy 8	Mitral regurgitation, Mitral valve prolapse	OMIM:616648
Polydactyly, Postaxial, Type A1	Preaxial polydactyly, Macrocephaly, Triphalangeal thumb, Postaxial hand polydactyly, Y-shaped met...	OMIM:174200
Fibronectin Glomerulopathy	Glomerulopathy, Hypertension, Abnormal glomerular mesangium morphology, Nephrotic syndrome, Micro...	ORPHA:84090
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Abnormal renal morphology, Broad thumb, Microcephaly, Wide mouth, Umbilical hernia, Bicuspid aort...	ORPHA:329224
14Q11.2 Microdeletion Syndrome	Exaggerated cupid's bow, High palate, Everted lower lip vermilion, Narrow mouth, Toe clinodactyly...	ORPHA:261120
Acquired Aneurysmal Subarachnoid Hemorrhage	Congestive heart failure, Ischemic stroke, Prolonged QTc interval, Hydrocephalus, Hypertension, C...	ORPHA:90065
Aneurysm Of Sinus Of Valsalva	Congestive heart failure, Aortic regurgitation, Bacterial endocarditis, Stroke, Dilatation of the...	ORPHA:1054
Peroxisome Biogenesis Disorder 12A (Zellweger)	Cerebral atrophy, Decreased fetal movement, Hydrocephalus, Cranial asymmetry, Growth delay, Short...	OMIM:614886
Achondrogenesis Type 2	Delayed pubic bone ossification, Short long bone, Short ribs, Hypoplastic ilia, Micromelia, Short...	ORPHA:93296
Gaucher Disease, Perinatal Lethal	Everted upper lip vermilion, Polyhydramnios, Purpura, Petechiae, Narrow mouth, Everted lower lip ...	OMIM:608013
Tetraploidy	Renal hypoplasia/aplasia, Radial club hand, Short philtrum, Biparietal narrowing, Aplasia/Hypopla...	ORPHA:3305
Cardiomyopathy, Dilated, 1K	Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm	OMIM:605582
Gaucher Disease, Type I	Abnormal pulmonary interstitial morphology, Hypertension, Pulmonary arterial hypertension, Aortic...	OMIM:230800
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Intestinal malrotation, Microcephaly, Syndactyly, Enamel agenesis, Long philtrum, Ventriculomegal...	OMIM:614701
Holoprosencephaly-Postaxial Polydactyly Syndrome	Microphthalmia, Renal hypoplasia/aplasia, Hypoplasia of penis, Intestinal malrotation, Microcepha...	ORPHA:2166
Heart And Brain Malformation Syndrome	Cerebral atrophy, Hypoplasia of the corpus callosum, Microphthalmia, Thick lower lip vermilion, H...	OMIM:616920
Idiopathic Neonatal Atrial Flutter	Abnormal atrioventricular conduction, Abnormal QRS complex, Fetal distress, Hydrops fetalis, Redu...	ORPHA:45452
Schneckenbecken Dysplasia	Stillbirth, Macrocephaly, Polyhydramnios, Disproportionate short-limb short stature, Snail-like i...	OMIM:269250
Tetraamelia-Multiple Malformations Syndrome	Abnormal lung lobation, Orofacial cleft, Microphthalmia, Polyhydramnios, Hydrocephalus, Narrow mo...	ORPHA:3301
Kapur-Toriello Syndrome	Bilateral single transverse palmar creases, Clinodactyly of the 5th toe, Microphthalmia, Single t...	OMIM:244300
Cerebrocostomandibular Syndrome	Anomalous rib insertion to vertebrae, Ectopic kidney, Glossoptosis, Microcephaly, Short humerus, ...	OMIM:117650
Lymphatic Malformation 13	Single umbilical artery, Patent foramen ovale, Lymphedema, Ascites, Pulmonary arterial hypertensi...	OMIM:620244
Circumvallate Placenta Syndrome	Polyhydramnios, Intracranial hemorrhage	OMIM:215550
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Prominent occiput, Microdontia, Microcephaly, Intrauterine growth retardation, Clinodactyly, Shor...	OMIM:617360
Myotubular Myopathy With Abnormal Genital Development	Polyhydramnios, Atelectasis, Hypospadias, Glandular hypospadias, Thin ribs, High palate, Neonatal...	OMIM:300219
Systemic Lupus Erythematosus 17	Oral ulcer, Raynaud phenomenon, Mitral regurgitation, Hypertensive crisis	OMIM:301080
Duane-Radial Ray Syndrome	Microphthalmia, Pectoralis hypoplasia, Sandal gap, Short humerus, Absent thumb, Syndactyly, Absen...	OMIM:607323
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Postnatal growth retardation, Microphthalmia, Multiple bladder diverticula, Widely spaced teeth, ...	ORPHA:2728
Kury-Isidor Syndrome	Rocker bottom foot, Brachycephaly, Widely spaced teeth, Proximal placement of thumb, Triangular m...	OMIM:619762
Fanconi Anemia, Complementation Group F	Hypoplasia of the radius, Microphthalmia, Pneumonia, Single umbilical artery, Polyhydramnios, Pel...	OMIM:603467
Diffuse Neonatal Hemangiomatosis	Polyhydramnios, Renal hypoplasia/aplasia, Hydrops fetalis, Ascites, Premature birth, Patent ductu...	ORPHA:2123
Neu-Laxova Syndrome	Prominent occiput, Cerebral calcification, Everted lower lip vermilion, Microcephaly, Bifid uvula...	ORPHA:2671
Behçet Disease	Gastrointestinal hemorrhage, Glomerulopathy, Aortic regurgitation, Recurrent aphthous stomatitis,...	ORPHA:117
Cardiomyopathy, Dilated, 1Bb	Congestive heart failure, Left bundle branch block, Severely reduced left ventricular ejection fr...	OMIM:612877
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Congestive heart failure, Wolff-Parkinson-White syndrome, Hypertension, Left ventricular hypertro...	OMIM:540000
Cornelia De Lange Syndrome 5	Limited elbow extension, Thin vermilion border, Postnatal growth retardation, Widely spaced teeth...	OMIM:300882
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Short long bone, Flat acetabular roof, Short ribs, Hypoplastic ischia, Dumbbell-shaped long bone,...	OMIM:151210
Adams-Oliver Syndrome 1	Microphthalmia, Hypertension, Pulmonic stenosis, Aortic valve stenosis, Microcephaly, Bicuspid ao...	OMIM:100300
RCAD (renal cysts and diabetes)	Multiple renal cysts	DECIPHER:47
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia, Macrocephaly, Rhizomelia, 11 pairs of ribs, Metaphyseal cupping, Hypoplastic ilia...	OMIM:300863
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Hypoplasia of the corpus callosum, Short philtrum, Anophthalmia, Everted lower lip vermilion, Hyp...	ORPHA:411986
Cat Eye Syndrome	Microphthalmia, Meckel diverticulum, Pulmonic stenosis, Intestinal malrotation, Umbilical hernia,...	OMIM:115470
Robinow Syndrome, Autosomal Dominant 3	Broad thumb, Mesomelia, Syndactyly, Long philtrum, Hypoplastic right heart, Clinodactyly, Triangu...	OMIM:616894
Arterial Tortuosity Syndrome	Rocker bottom foot, Abnormal carotid artery morphology, Hypertension, Arachnodactyly, Craniosynos...	ORPHA:3342
S-Adenosylhomocysteine Hydrolase Deficiency	Hypoplasia of the corpus callosum, Hyperintensity of cerebral white matter on MRI, Prolonged prot...	ORPHA:88618
Alagille Syndrome	Hypoplasia of the ulna, Delayed puberty, Brachycephaly, Renal hypoplasia/aplasia, Clinodactyly of...	ORPHA:52
Chromosome 5Q12 Deletion Syndrome	Postnatal growth retardation, Short philtrum, Long toe, Patent foramen ovale, Hypotension, Increa...	OMIM:615668
Intellectual Developmental Disorder, X-Linked, Syndromic 35	Dilation of Virchow-Robin spaces, Dental crowding, Microcephaly, Premature birth, Intrauterine gr...	OMIM:300998
Fetal Akinesia Deformation Sequence 1	Rocker bottom foot, Wrist flexion contracture, Premature birth, Nonimmune hydrops fetalis, Decrea...	OMIM:208150
Ellis Van Creveld Syndrome	Renal hypoplasia/aplasia, Microdontia, Abnormal oral frenulum morphology, Short distal phalanx of...	ORPHA:289
8Q12 Microduplication Syndrome	Brachycephaly, Vesicoureteral reflux, Narrow mouth, Everted lower lip vermilion, Long philtrum, A...	ORPHA:228399
Intellectual Developmental Disorder, Autosomal Dominant 21	Thin vermilion border, Single transverse palmar crease, Incisor macrodontia, Narrow mouth, Short ...	OMIM:615502
Osteogenesis Imperfecta, Type Ii	Absent ossification of calvaria, Pulmonary insufficiency, Congestive heart failure, Crumpled long...	OMIM:166210
Endocrine-Cerebroosteodysplasia	Enlarged kidney, Sandal gap, Tibial bowing, Syndactyly, Ventriculomegaly, Bilateral cleft lip, Ap...	OMIM:612651
Bone Dysplasia, Lethal Holmgren Type	Abnormality of the hand, Abnormal thumb morphology, Abnormal femur morphology, Rhizomelia, Abnorm...	ORPHA:1842
Cardiac Diverticulum	Abnormal coronary artery origin, Premature ventricular contraction, Aortic valve stenosis, Abnorm...	ORPHA:1686
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Hypospadias, Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Cataract, Cryptorchidism	ORPHA:1381
Fabry Disease	Delayed puberty, Congestive heart failure, Abnormality of the hand, Ventricular septal hypertroph...	OMIM:301500
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Delayed puberty, Ischemic stroke, Moyamoya phenomenon, Coronary artery atherosclerosis, Hypertens...	ORPHA:280679
1Q41Q42 Microdeletion Syndrome	Short stature, Growth delay, Frontal bossing, Cleft palate, Holoprosencephaly, Thick vermilion bo...	ORPHA:250999
Cardiospondylocarpofacial Syndrome	Decreased fetal movement, Cone-shaped epiphysis, Muscular ventricular septal defect, Tarsal synos...	OMIM:157800
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, External genital hypoplasia, Hypoplasia of penis, Anophthalmia, Hypogonadism, Cat...	ORPHA:2250
Tako-Tsubo Cardiomyopathy	Prolonged QT interval, Bradycardia, Hypertension, T-wave inversion, Low-output congestive heart f...	ORPHA:66529
Lujo Hemorrhagic Fever	Myocarditis, Purpura, Atelectasis, Bradycardia, Hypotension, Microscopic hematuria, Generalized e...	ORPHA:319213
Corneal Dystrophy, Groenouw Type I	Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy	OMIM:121900
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Hypospadias, Bilateral lung agenesis, Renal agenesis, Pulmonary artery stenosis, Congenital pulmo...	OMIM:611812
Aorto-Ventricular Tunnel	Congestive heart failure, Aortic root aneurysm, Abnormal heart valve morphology, Ventricular hype...	ORPHA:3400
White Forelock With Malformations	Aplasia/Hypoplasia of the distal phalanges of the toes, Atrial septal defect, Prominent veins on ...	OMIM:277740
Lmna-Related Cardiocutaneous Progeria Syndrome	Congestive heart failure, Emphysema, Coronary artery atherosclerosis, Aortic root aneurysm, Hyper...	ORPHA:363618
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Brachycephaly, Hypoplasia of the corpus callosum, Secondary microcephaly, Clinodactyly of the 5th...	OMIM:620073
Renal Agenesis	Unilateral renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral renal agenesis, Hypertens...	ORPHA:411709
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Postnatal growth retardation, Hypospadias, 11 pairs of ribs, Hypodontia, Dental crowding, Patent ...	OMIM:619184
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Preaxial polydactyly, Ulnar bowing, Hydrocephalus, Polycystic kidney dysplasia, Single transverse...	OMIM:617866
Upper Limb Defect-Eye And Ear Abnormalities Syndrome	Cataract, Cryptorchidism, Chorioretinal coloboma	ORPHA:2489
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Brachycephaly, Hypoplasia of the corpus callosum, Flat occiput, Ventriculomegaly, High palate, In...	OMIM:617452
Abnormal Hair, Joint Laxity, And Developmental Delay	Clinodactyly of the 5th toe, Plagiocephaly, Short fifth metatarsal, 2-3 toe syndactyly, Increased...	OMIM:261990
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hematemesis, Enlarged kidney, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, Hypertens...	OMIM:263200
Cousin Syndrome	Microphthalmia, Dislocated radial head, Hypoplastic iliac wing, Wrist flexion contracture, Hypopl...	OMIM:260660
Viss Syndrome	Rocker bottom foot, Pulmonary artery aneurysm, Iliac artery aneurysm, Arterial tortuosity, Corona...	OMIM:619472
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Talipes equinovarus, Growth delay, Short stature, Brachydactyly, Short 5th finger, Atrial septal ...	ORPHA:52056
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Brachycephaly, Abnormality of the hand, Bilateral microphthalmos, Widely spaced teeth, Plagioceph...	ORPHA:369891
Spinal Muscular Atrophy, Type I	Atrial septal defect, Ventricular septal defect, Recurrent respiratory infections, Decreased feta...	OMIM:253300
Aneurysm, Intracranial Berry, 1	Intracranial hemorrhage, Dilatation of the cerebral artery	OMIM:105800
Aneurysm, Intracranial Berry, 2	Subarachnoid hemorrhage, Cerebral berry aneurysm	OMIM:608542
Atelosteogenesis Type I	Abnormal fibula morphology, Polyhydramnios, Rhizomelia, Neonatal short-trunk short stature, Short...	ORPHA:1190
Bardet-Biedl Syndrome 14	Polydactyly, Renal insufficiency	OMIM:615991
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Abnormal fibula morphology, Aqueductal stenosis, Cerebral calcification, Tibial bowing, Bowing of...	ORPHA:3035
Mckusick-Kaufman Syndrome	Renal hypoplasia/aplasia, Tarsal synostosis, Aganglionic megacolon, Abnormal metacarpal morpholog...	ORPHA:2473
Moderate Hemophilia A	Spontaneous hematomas, Gastrointestinal hemorrhage, Epidural hemorrhage, Hematuria, Abnormal blee...	ORPHA:169805
Spinal Muscular Atrophy With Mental Retardation	Microcephaly, Syndactyly	OMIM:271109
Ciliary Dyskinesia, Primary, 29	Bronchiectasis, Situs inversus totalis, Recurrent respiratory infections, Atelectasis	OMIM:615872
Beta-Mercaptolactate Cysteine Disulfiduria	Genu valgum, Sandal gap, High palate, Micromelia, Abnormality of the ureter, Arachnodactyly, Shor...	ORPHA:1035
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Congestive heart failure, Abnormal heart valve morphology, Hypertension, Hypertrophic cardiomyopa...	ORPHA:1345
Miller-Dieker Lissencephaly Syndrome	Midline brain calcifications, Microcephaly, Abnormal heart morphology, Recurrent aspiration pneum...	OMIM:247200
Fanconi Anemia, Complementation Group D2	Microphthalmia, Ectopic kidney, Tracheoesophageal fistula, Aplasia of the 1st metacarpal, Microce...	OMIM:227646
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Congenital Muscular Dystrophy With Cerebellar Involvement	Occipital encephalocele, Microphthalmia, Hydrocephalus, Optic nerve hypoplasia, Type II lissencep...	ORPHA:370959
Non-Distal Duplication 10Q	Brachycephaly, High palate, Everted lower lip vermilion, Aplasia/Hypoplasia affecting the eye, Sh...	ORPHA:1695
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Ground-glass opacification, Abnormal pulmonary interstitial morphology, Atelectasis, Recurrent lo...	OMIM:620233
Li-Campeau Syndrome	Patellar hypoplasia, Single transverse palmar crease, Patent foramen ovale, Short stature, Patent...	OMIM:619189
Gómez-López-Hernández Syndrome	Brachycephaly, Thin vermilion border, Turricephaly, Hydrocephalus, Cerebellar vermis hypoplasia, ...	ORPHA:1532
Craniofacial Microsomia 1	Occipital encephalocele, Microphthalmia, Ectopic kidney, Wide mouth, Cervical ribs, Hydrocephalus...	OMIM:164210
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Postnatal growth retardation, Long philtrum, Polyhydramnios, Cubitus valgus, Chylothorax, Lymphed...	OMIM:613563
Thoracoabdominal Syndrome	Ectopia cordis, Transposition of the great arteries, Hypospadias, Anencephaly, Hydrocephalus, Ren...	OMIM:313850
Peters Plus Syndrome	Ureteral duplication, Renal hypoplasia/aplasia, Disproportionate short-limb short stature, Pulmon...	ORPHA:709
20P12.3 Microdeletion Syndrome	Wolff-Parkinson-White syndrome, Macrocephaly, Ventriculomegaly, Narrow mouth, Broad thumb, Short ...	ORPHA:261295
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Microphthalmia, Broad alveolar ridges, Microcephaly, Syndactyly, Intrauterine growth retardation,...	OMIM:616975
Phocomelia, Schinzel Type	Hypoplasia of penis, Aplasia/Hypoplasia involving the pelvis, Tracheoesophageal fistula, Intraute...	ORPHA:2879
Eosinophilic Granulomatosis With Polyangiitis	Myocarditis, Congestive heart failure, Glomerulopathy, Intestinal obstruction, Hematuria, Purpura...	ORPHA:183
Noonan Syndrome 2	Abnormal coronary artery origin, Prominent fingertip pads, Cardiomyopathy, Relative macrocephaly,...	OMIM:605275
Cat-Eye Syndrome	Microphthalmia, Renal hypoplasia/aplasia, Abnormal localization of kidney, Anal atresia, Abnormal...	ORPHA:195
Congenital Enterovirus Infection	Myocarditis, Fetal distress, Abnormal bleeding, Hydrops fetalis, Polyhydramnios, Cardiomyopathy, ...	ORPHA:292
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Ureteral duplication, Clinodactyly of the 2nd finger, Cone-shaped epiphyses of the phalanges of t...	OMIM:266920
Noonan Syndrome 12	Polyhydramnios, Proximal placement of thumb, 11 pairs of ribs, Tetralogy of Fallot, Ventriculomeg...	OMIM:618624
Lessel-Kreienkamp Syndrome	Plagiocephaly, Clinodactyly of the 5th finger, Dental malocclusion, Patent foramen ovale, Pulmoni...	OMIM:619149
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal tubular epithelial necrosis, Myoglobinuria, Cerebral calcification, Red-brown urine, Cardio...	ORPHA:228308
Temtamy Syndrome	Abnormal palate morphology, Microphthalmia, Thick lower lip vermilion, Clinodactyly of the 5th fi...	ORPHA:1777
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Hypoplasia of the corpus callosum, Elevated urinary aminoisobutyric acid, Microphthalmia, Thin co...	OMIM:614105
Congenital Disorder Of Glycosylation, Type Ia	Prolonged prothrombin time, Steatorrhea, Cerebellar vermis hypoplasia, Proximal tubulopathy, Card...	OMIM:212065
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Aplasia/hypoplasia of the femur, Microphthalmia, Proximal placement of thumb, Hypoplastic pubic r...	OMIM:609945
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Brachycephaly, Plagiocephaly, Hypoplasia of the corpus callosum, Decreased fetal movement, Tooth ...	OMIM:618603
Intellectual Disability-Strabismus Syndrome	Rocker bottom foot, Plagiocephaly, Hypoplasia of the corpus callosum, Polyhydramnios, Hypospadias...	ORPHA:363528
Cardiomyopathy, Familial Hypertrophic, 1	Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy	OMIM:192600
Cardiac-Urogenital Syndrome	Enlarged kidney, Mesocardia, Coronary sinus enlargement, Intestinal malrotation, Dysplastic tricu...	OMIM:618280
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Brachycephaly, Plagiocephaly, Hypoplasia of the corpus callosum, Hydrocephalus, Ulnar deviation o...	OMIM:618577
Cerebrooculofacioskeletal Syndrome 1	Rocker bottom foot, Thin vermilion border, Microphthalmia, Second metatarsal posteriorly placed, ...	OMIM:214150
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Polyhydramnios, Hydrops fetalis, Fetal pericardial effusion, Fetal pleural effusion, Fetal ascites	OMIM:619462
Nephrotic Syndrome, Type 11	Minimal change glomerulonephritis, Ventricular septal defect, High palate, Focal segmental glomer...	OMIM:616730
Orofaciodigital Syndrome Type 4	Renal hypoplasia/aplasia, Abnormal oral frenulum morphology, Microcephaly, Bifid uvula, Severe sh...	ORPHA:2753
Caudal Regression Syndrome	Orofacial cleft, Ureteral duplication, Ectopic kidney, Abnormal iliac wing morphology, Hypertensi...	ORPHA:3027
Coach Syndrome 1	Occipital encephalocele, Nephronophthisis, Vascular dilatation, Unilateral renal agenesis, Enceph...	OMIM:216360
Autosomal Recessive Spondylocostal Dysostosis	Macrocephaly, Hypospadias, Spina bifida occulta, Prominent occiput, Finger syndactyly, Meningocel...	ORPHA:2311
Robinow Syndrome	Mesomelic arm shortening, Broad alveolar ridges, Dental crowding, Pulmonic stenosis, Abnormal hea...	ORPHA:97360
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia, Rhizomelia, Short philtrum, Hydrocephalus, Hypoplastic iliac wing, Thin ribs, Abn...	ORPHA:163966
Autosomal Dominant Keratitis	Corneal neovascularization, Bilateral microphthalmos, Aniridia, Limbal stem cell deficiency, Colo...	ORPHA:2334
Anterior Segment Dysgenesis 8	Optic nerve dysplasia, Iris transillumination defect, Microphakia, Iridodonesis, Corneal stromal ...	OMIM:617319
Scheie Syndrome	Aortic valve stenosis, Mitral stenosis, Genu valgum, Aortic regurgitation	OMIM:607016
Cardiomyopathy, Dilated, 1V	Congestive heart failure, Left bundle branch block, Reduced left ventricular ejection fraction, A...	OMIM:613697
Schinzel-Giedion Syndrome	Broad alveolar ridges, Tibial bowing, Abnormal heart morphology, Wide mouth, Umbilical hernia, Sh...	ORPHA:798
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Plagiocephaly, Aganglionic megacolon, Abnormally large globe, Short philtrum, Hydrocephalus, Abno...	OMIM:239300
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Atrioventricular canal defect, Macrocephaly, Dextrocardia, Short philtrum, High palate, Tricuspid...	OMIM:618929
2Q31.1 Microdeletion Syndrome	Microphthalmia, Sandal gap, Everted lower lip vermilion, Trigonocephaly, Microcephaly, Long philt...	ORPHA:251014
Meckel Syndrome, Type 5	Occipital encephalocele, Microphthalmia, Anencephaly, Postaxial hand polydactyly, Bowing of the l...	OMIM:611561
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Single umbilical artery, Polyhydramnios, Abnormal tricuspid valve morphology, Hydrops fetalis, Ab...	ORPHA:3405
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Hypoplasia of the corpus callosum, Congestive heart failure, Urinary incontinence, Rhizomelia, Me...	OMIM:616482
Leukoencephalopathy With Vanishing White Matter 2	Optic atrophy, Premature ovarian insufficiency, Secondary amenorrhea, Cataract	OMIM:620312
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Atelectasis, Right bundle branch block, Bronchiolitis, Proximal upper limb muscle hypertrophy, Pu...	ORPHA:254361
Polyvalvular Heart Disease Syndrome	Short philtrum, Abnormal heart valve morphology, Dental crowding, High palate, Tricuspid regurgit...	ORPHA:228410
Cutis Laxa, Autosomal Dominant 1	Congestive heart failure, Emphysema, Aortic regurgitation, Peripheral pulmonary artery stenosis, ...	OMIM:123700
Alpha-Mannosidosis, Adult Form	Aortic regurgitation, Subcortical cerebral atrophy, Cerebral cortical atrophy, Pneumonia, Oligosa...	ORPHA:309288
Bardet-Biedl Syndrome 11	Polydactyly, Abnormality of the kidney	OMIM:615988
Joubert Syndrome 2	Microphthalmia, Nephronophthisis, Macrocephaly, Encephalocele, Hydrocephalus, Hypoplasia of the b...	OMIM:608091
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia, Thin corpus callosum, Cerebellar vermis hypoplasia, Cortical dysplasia, Hypoplasi...	OMIM:615771
Proboscis Lateralis	Orofacial cleft, Microphthalmia, Agenesis of canine, Macrocephaly, Unilateral renal agenesis, Pro...	ORPHA:141099
Incessant Infant Ventricular Tachycardia	Congestive heart failure, Wolff-Parkinson-White syndrome, Cardiac rhabdomyoma, Histiocytoid cardi...	ORPHA:45453
Congenital Radioulnar Synostosis	Polydactyly, Limited elbow movement, Abnormality of the musculature of the upper arm, Dislocated ...	ORPHA:3269
Filippi Syndrome	Postnatal growth retardation, Thin vermilion border, Short philtrum, Single transverse palmar cre...	OMIM:272440
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Bifid uvula, Long philtrum, Ventriculomegaly, Hip dislocation, Abnormal cortical gyration, Dandy-...	OMIM:300968
Craniotelencephalic Dysplasia	Frontal encephalocele, Microphthalmia, Optic nerve hypoplasia	OMIM:218670
Camptodactyly Syndrome, Guadalajara Type 1	Brachycephaly, Cubitus valgus, Dental malocclusion, Open bite, Scapular winging, High palate, Nar...	ORPHA:1327
Williams-Beuren Region Duplication Syndrome	Brachycephaly, Hypoplasia of the corpus callosum, Macrocephaly, Unilateral renal agenesis, Short ...	OMIM:609757
Cofs Syndrome	Microphthalmia, Cerebral calcification, Everted lower lip vermilion, Short stature, Camptodactyly...	ORPHA:1466
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Abnormality of the hand, Clinodactyly of the 5th finger, Clinodactyly of the 3rd toe, Abnormality...	ORPHA:521308
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Hypertension, Ventricular hypertrophy, Nephrolithiasis, Pulmonary arterial hypertension, Caesaria...	ORPHA:369929
Acrocallosal Syndrome	Everted upper lip vermilion, Pulmonary valve defects, Prominent occiput, Abnormal oral frenulum m...	OMIM:200990
Nemaline Myopathy 9	Polyhydramnios, Breech presentation, High palate, Cleft palate, Ventricular septal defect, Fetal ...	OMIM:615731
Combined Oxidative Phosphorylation Deficiency 57	Cerebral atrophy, Secondary microcephaly, Cardiac arrest, Hypertrophic cardiomyopathy, Reduced ce...	OMIM:620167
Stevenson-Carey Syndrome	Brachycephaly, Hypoplasia of the corpus callosum, Microphthalmia, Left superior vena cava drainin...	OMIM:611961
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Brachycephaly, Microphthalmia, Broad distal phalanx of finger, 2-3 toe syndactyly, Postaxial poly...	ORPHA:404440
Hallux Varus And Preaxial Polysyndactyly	Preaxial hand polydactyly, Hallux varus, Broad hallux, Syndactyly	OMIM:234280
Congenital Myopathy 1B, Autosomal Recessive	Hydrops fetalis, Polyhydramnios, High palate, Pulmonary hypoplasia, Decreased fetal movement, Rec...	OMIM:255320
Nephronophthisis 16	Situs inversus totalis, Enlarged kidney, Nephronophthisis, Polycystic kidney dysplasia, Hypertrop...	OMIM:615382
Cardiomyopathy, Dilated, 1Nn	Congestive heart failure, Reduced left ventricular ejection fraction, Abnormal ST segment, Ventri...	OMIM:615916
Cataract-Microcornea Syndrome	Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma	ORPHA:1377
Cirrhotic Cardiomyopathy	Elevated pulmonary artery pressure, Congestive heart failure, Fourth heart sound, Left atrial enl...	ORPHA:57777
Joubert Syndrome 16	Polydactyly, Nephronophthisis, Encephalocele, Dandy-Walker malformation, Renal cyst	OMIM:614465
Nuchal Bleb, Familial	Stillbirth, Hydrops fetalis, Fetal cystic hygroma	OMIM:257350
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Disproportionate short-limb short stature, Hypoplasia of penis, Short ribs, Urethrovaginal fistul...	ORPHA:93271
Methanol Poisoning	Abnormal putamen morphology, Bilateral basal ganglia lesions, Basal ganglia necrosis, Hypertensio...	ORPHA:31825
Adams-Oliver Syndrome 2	Cerebral atrophy, Microphthalmia, Macrocephaly, Hydrocephalus, Single transverse palmar crease, P...	OMIM:614219
Cardiomyopathy, Familial Hypertrophic, 8	Left atrial enlargement, Congestive heart failure, Endocardial fibrosis, Reduced left ventricular...	OMIM:608751
Multiple Pterygium Syndrome, Escobar Variant	Rocker bottom foot, Dislocated radial head, Arachnodactyly, Syndactyly, Decreased fetal movement,...	OMIM:265000
Combined Oxidative Phosphorylation Deficiency 22	Intrauterine growth retardation, Congestive heart failure, Microcephaly, Pulmonary arterial hyper...	OMIM:616045
Li-Ghorbani-Weisz-Hubshman Syndrome	Hypoplasia of the corpus callosum, Clinodactyly of the 5th finger, Ventriculomegaly, Downturned c...	OMIM:618974
Pallister-Hall Syndrome	Microphthalmia, Ectopic kidney, Mesoaxial polydactyly, Oligodactyly, Hypothalamic hamartoma, Broa...	ORPHA:672
Williams-Beuren Syndrome	Abnormal renal morphology, Hypertension, Microdontia, Pulmonic stenosis, Nephrocalcinosis, Mitral...	OMIM:194050
Persistent Hyperplastic Primary Vitreous	Microphthalmia, Microcornea, Corneal opacity, Persistent pupillary membrane, Remnants of the hyal...	ORPHA:91495
16P13.11 Microduplication Syndrome	Transposition of the great arteries, Arachnodactyly, Hand polydactyly, Coarctation of aorta, Tetr...	ORPHA:261243
Pelvis-Shoulder Dysplasia	Aplasia/hypoplasia of the femur, Dislocated radial head, Hypoplastic ischia, Syndactyly, Absent p...	ORPHA:2839
Alagille Syndrome 2	Hematuria, Renal tubular acidosis, Hypertension, Renal cyst, Pulmonic stenosis, Renal hypoplasia,...	OMIM:610205
Menkes Disease	Brachycephaly, Metaphyseal spurs, Short stature, Microcephaly, Metaphyseal widening, Intracranial...	OMIM:309400
Fetal Gaucher Disease	Stillbirth, Hydrops fetalis, High palate, Neonatal death, Intracranial hemorrhage, Decreased feta...	ORPHA:85212
Congenital Myopathy 17	Overlapping fingers, Polyhydramnios, Fetal akinesia sequence, Tapered finger, High palate, Renal ...	OMIM:618975
Proximal 16P11.2 Microdeletion Syndrome	Abnormal aortic valve morphology, Macrocephaly, Dextrocardia, Ventriculomegaly, Platybasia, Pylor...	ORPHA:261197
17Q12 Microduplication Syndrome	Microphthalmia, Polyhydramnios, Finger syndactyly, Cortical dysplasia, Tracheoesophageal fistula,...	ORPHA:261272
Combined Oxidative Phosphorylation Deficiency 28	Congestive heart failure, Polyhydramnios, Decreased fetal movement	OMIM:616794
Microphthalmia, Isolated 5	Microphthalmia, Bone spicule pigmentation of the retina, Optic disc drusen, Retinal pigment epith...	OMIM:611040
Koolen-De Vries Syndrome Due To A Point Mutation	Prominent fingertip pads, Cardiomyopathy, Everted lower lip vermilion, Pulmonic stenosis, Arachno...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Prominent fingertip pads, Cardiomyopathy, Everted lower lip vermilion, Pulmonic stenosis, Arachno...	ORPHA:363958
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Plagiocephaly, Aganglionic megacolon, Anal stenosis, Ventriculomegaly, Vesicoureteral reflux, Ana...	OMIM:614749
Geleophysic Dysplasia 2	Tricuspid stenosis, Pulmonary arterial hypertension, Short foot, Aortic valve stenosis, Short pal...	OMIM:614185
Foveal Hypoplasia 2	Microphthalmia, Hypoplasia of the fovea	OMIM:609218
Cerebrofacioarticular Syndrome	Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Caudal appendage, Anal stenosis, H...	ORPHA:314679
Congenital Fibrinogen Deficiency	Prolonged prothrombin time, Microphthalmia, Abnormal bleeding, Clubbing of fingers, Hemorrhagic o...	ORPHA:335
Metatropic Dysplasia	Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Hydrocephalus, Halberd-shaped pel...	ORPHA:2635
Distal 22Q11.2 Microduplication Syndrome	Palpebral edema, Microcephaly, Long philtrum, Short philtrum, Hydrocephalus, Biparietal narrowing...	ORPHA:261337
Triphalangeal Thumb With Polysyndactyly	Triphalangeal thumb, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Preaxial hand po...	OMIM:190605
Mitochondrial Trifunctional Protein Deficiency	Congestive heart failure, Cardiomyopathy, Tricuspid regurgitation, Left ventricular hypertrophy, ...	ORPHA:746
Triphalangeal Thumb, Nonopposable	Polydactyly, Triphalangeal thumb	OMIM:190600
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia, Polyhydramnios, Hydroureter, Hypoplasia of penis, Abnormality of the bladder, Abn...	ORPHA:2547
Timothy Syndrome	Single umbilical artery, Pneumonia, Prolonged QT interval, Cardiomegaly, Bradycardia, Bronchitis,...	OMIM:601005
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Baraitser-Winter Syndrome 2	Secondary microcephaly, Orofacial cleft, Microphthalmia, Lissencephaly, Short stature, Trigonocep...	OMIM:614583
Chromosome 9P Deletion Syndrome	Clinodactyly of the 5th toe, Sandal gap, Trigonocephaly, Heart murmur, Long philtrum, Long toe, N...	OMIM:158170
Den Hoed-De Boer-Voisin Syndrome	Sandal gap, Yellow-brown discoloration of the teeth, Microcephaly, Abnormality of prenatal develo...	OMIM:619229
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Sandal gap, Enlarged metaphyses, Dislocated radial head, Microdontia, Mitral valve prolapse, Left...	OMIM:245600
Fanconi Anemia, Complementation Group G	Growth delay, Microphthalmia	OMIM:614082
Camptosynpolydactyly, Complex	Polydactyly, Cutaneous syndactyly, Syndactyly, Camptodactyly	OMIM:607539
Solitary Median Maxillary Central Incisor	Microphthalmia, Solitary median maxillary central incisor, Anophthalmia, Prominent median palatal...	OMIM:147250
Hajdu-Cheney Syndrome	Delayed puberty, Partial absence of toe, Prominent occiput, Aortic valve stenosis, Intestinal mal...	ORPHA:955
Sifrim-Hitz-Weiss Syndrome	Macrocephaly, Renal insufficiency, Short clavicles, Vesicoureteral reflux, Flat acetabular roof, ...	OMIM:617159
Vici Syndrome	Everted upper lip vermilion, Cardiomyopathy, Microcephaly, Left ventricular hypertrophy, Long phi...	OMIM:242840
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Rocker bottom foot, Everted upper lip vermilion, Dilation of Virchow-Robin spaces, Unilateral ren...	OMIM:619951
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Plagiocephaly, Aplasia/Hypoplasia of the distal phalanges of the hand, Short philtrum, Ectopic an...	ORPHA:94066
Holoprosencephaly 9	Microphthalmia, Thin corpus callosum, Solitary median maxillary central incisor, Optic nerve hypo...	OMIM:610829
Diaphragmatic Hernia 4, With Cardiovascular Defects	Macrocephaly, Clinodactyly of the 5th finger, Polyhydramnios, 11 pairs of ribs, Finger syndactyly...	OMIM:620025
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Intrauterine growth retardation, Bicuspid aortic valve, Craniosynostosis, Pelvic kidney, Patent f...	OMIM:300707
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Plagiocephaly, Intestinal malrotation, Short stature, Downturned corners of mouth, Hydronephrosis...	ORPHA:457193
Cerebrocostomandibular Syndrome	Clinodactyly of the 5th finger, Meningocele, Short hard palate, Hydranencephaly, Cerebral calcifi...	ORPHA:1393
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Decreased fetal movement, Clinodactyly of the 5th finger, Hypertension, Oligodactyly, Short foot,...	OMIM:619758
Opitz-Kaveggia Syndrome	Radial deviation of finger, Dental crowding, Prominent fingertip pads, Relative macrocephaly, Bro...	OMIM:305450
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Microcephaly, Abnormal heart morphology, Bifid uvula, Bicuspid aortic valve, Craniosynostosis, In...	ORPHA:453499
Koolen-De Vries Syndrome	Prominent fingertip pads, Everted lower lip vermilion, Pulmonic stenosis, Microcephaly, Bicuspid ...	OMIM:610443
Joubert Syndrome 22	Hypoplasia of the corpus callosum, Microphthalmia, 2-3 toe syndactyly, Postaxial hand polydactyly...	OMIM:615665
Bardet-Biedl Syndrome 17	Polydactyly, Situs inversus totalis, Polyuria, Dextrocardia, Mesoaxial polydactyly, Postaxial han...	OMIM:615994
Familial Cervical Artery Dissection	Stroke, Hypertension, Transient ischemic attack, Cerebral ischemia, Recurrent cerebral hemorrhage...	ORPHA:36382
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Thin corpus callosum, Dental crowding, Ventricular hypertrophy, Pulmonic stenosis, Syndactyly, Um...	OMIM:620654
Osteopathia Striata-Cranial Sclerosis Syndrome	Abnormal metaphysis morphology, Brachycephaly, High, narrow palate, Macrocephaly, Spina bifida oc...	ORPHA:2780
Developmental And Epileptic Encephalopathy 96	Hydrops fetalis, Primary microcephaly	OMIM:619340
Sonoda Syndrome	Short stature, Ventricular septal defect, Narrow mouth, High axial triradius	OMIM:270460
3Q29 Microdeletion Syndrome	Orofacial cleft, Microphthalmia, Macrocephaly, Clinodactyly of the 5th finger, Horseshoe kidney, ...	ORPHA:65286
6Q25 Microdeletion Syndrome	Rocker bottom foot, Plagiocephaly, Clinodactyly of the 5th finger, High palate, Short stature, Ca...	ORPHA:251056
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Short stature, Microphthalmia	OMIM:610023
Degcags Syndrome	Microphthalmia, Breech presentation, Pulmonic stenosis, Microcephaly, Premature birth, Wide mouth...	OMIM:619488
Lymphedema-Distichiasis Syndrome	Microphthalmia, Patent ductus arteriosus, Predominantly lower limb lymphedema, Chylothorax, Lymph...	OMIM:153400
Jacobsen Syndrome	U-Shaped upper lip vermilion, Microphthalmia, Flat occiput, Clinodactyly of the 5th finger, Hypos...	OMIM:147791
Nabais Sa-De Vries Syndrome, Type 2	Thin vermilion border, Polyhydramnios, Clinodactyly of the 5th finger, Bilateral cleft palate, Hi...	OMIM:618829
Orofaciodigital Syndrome Xviii	Preaxial polydactyly, Urinary incontinence, Genu valgum, Sandal gap, Short philtrum, Single trans...	OMIM:617927
Congenital Heart Defects And Ectodermal Dysplasia	Brachycephaly, 2-3 toe cutaneous syndactyly, Atrioventricular canal defect, Widely spaced teeth, ...	OMIM:617364
Burn-Mckeown Syndrome	Thin vermilion border, Unilateral renal agenesis, Short philtrum, 2-3 toe syndactyly, Narrow mout...	OMIM:608572
Babesiosis	Congestive heart failure, Clinodactyly of the 5th toe, Recurrent pharyngitis, Renal insufficiency...	ORPHA:108
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Thick lower lip vermilion, Megalencephaly, Macrocephaly, Polyhydramnios, Thick upper lip vermilio...	OMIM:611087
Free Sialic Acid Storage Disease	Hydrops fetalis, Abnormality of the upper limb, Ascites, Nephrotic syndrome, Proteinuria, Recurre...	ORPHA:834
Cayler Cardiofacial Syndrome	Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus	OMIM:125520
Ritscher-Schinzel Syndrome 2	Postnatal growth retardation, Clinodactyly of the 5th finger, Cerebellar hypoplasia, Short philtr...	OMIM:300963
Zygomycosis	Hematemesis, Gastrointestinal hemorrhage, Retinal arterial occlusion, Acute infectious pneumonia,...	ORPHA:73263
3Mc Syndrome 1	Dental crowding, Microcephaly, Short 5th finger, Single interphalangeal crease of fifth finger, C...	OMIM:257920
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Single umbilical artery, Polyhydramnios, Hypoplasia of penis, Finger synd...	ORPHA:2256
Trisomy X	Renal hypoplasia/aplasia, Clinodactyly of the 5th finger, Hip dysplasia, Atrial septal defect, Ve...	ORPHA:3375
Microcephaly-Capillary Malformation Syndrome	Cerebral atrophy, Hypoplasia of the corpus callosum, Progressive microcephaly, Patent foramen ova...	OMIM:614261
Joubert Syndrome 7	Nephronophthisis, Genu valgum, Encephalocele, Abnormal corpus callosum morphology, Postaxial hand...	OMIM:611560
Joubert Syndrome 5	Occipital encephalocele, Nephronophthisis, Aplasia/Hypoplasia of the cerebellar vermis, Renal cor...	OMIM:610188
Zaki Syndrome	Hypoplasia of the corpus callosum, Broad distal phalanx of finger, Patent ductus arteriosus, Shor...	OMIM:619648
Fraser Syndrome 3	Abnormal lung lobation, Stillbirth, Sonographic non-visualized fetal bladder, Hypoplasia of penis...	OMIM:617667
Genitopatellar Syndrome	Thin corpus callosum, Hypoplastic ischia, Microcephaly, Colpocephaly, Malrotation of small bowel,...	OMIM:606170
Congenital Tracheomalacia	Tracheoesophageal fistula, Abnormal heart morphology, Premature birth, Cardiomegaly, Pulmonary ar...	ORPHA:95430
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Rocker bottom foot, Clinodactyly of the 5th finger, Exaggerated cupid's bow, Trigonocephaly, Micr...	OMIM:618506
Rere-Related Neurodevelopmental Syndrome	Postnatal growth retardation, Hypoplasia of the corpus callosum, Microphthalmia, Hypospadias, Cer...	ORPHA:494344
Right Atrial Isomerism	Abnormal lung lobation, Situs inversus totalis, Transposition of the great arteries, Dextrocardia...	OMIM:208530
Restrictive Dermopathy 1	Rocker bottom foot, Ureteral duplication, Overtubulated long bones, Premature birth, Decreased fe...	OMIM:275210
Pelger-Huet Anomaly	Polydactyly, Short 4th metacarpal, Macrocephaly, Upper limb undergrowth, Gingival overgrowth, Abn...	OMIM:169400
Microphthalmia, Syndromic 13	Short stature, Microphthalmia	OMIM:300915
Complete Atrioventricular Septal Defect	Third heart sound, Left-to-right shunt, Cardiomegaly, Pulmonary venous hypertension, Abnormal car...	ORPHA:1329
Farber Disease	Abnormality of the hand, Short finger, Abnormality of the wrist, Atelectasis, Hydrops fetalis, As...	ORPHA:333
Cockayne Syndrome Type 2	Male hypogonadism, Anophthalmia, Developmental cataract, Conjunctivitis, Cryptorchidism	ORPHA:90322
Chromosome 10Q26 Deletion Syndrome	Radial deviation of finger, Sandal gap, Prominent fingertip pads, Microcephaly, Long philtrum, Cr...	OMIM:609625
Orofaciodigital Syndrome Type 6	Renal hypoplasia/aplasia, Mesoaxial polydactyly, Hypothalamic hamartoma, Abnormal oral frenulum m...	ORPHA:2754
6P22 Microdeletion Syndrome	Abnormal palate morphology, Finger syndactyly, Hydrocephalus, Hydronephrosis, Patent ductus arter...	ORPHA:251046
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Plagiocephaly, Periventricular leukomalacia, Thin corpus callosum, Polyhydramnios, Hammertoe, Hyd...	OMIM:619833
Neurogenic Arthrogryposis Multiplex Congenita	Rocker bottom foot, Plagiocephaly, Breech presentation, Elbow flexion contracture, Wrist flexion ...	ORPHA:1143
Iris Pigment Layer, Cleavage Of	Cataract, Peripheral retinal detachment	OMIM:147610
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Thin corpus callosum, Microcephaly, Hypoplasia of the pons, Atrial septal defect, Ventricular sep...	OMIM:614249
Isolated Follicle Stimulating Hormone Deficiency	Delayed puberty, Azoospermia, Decreased female libido, Oligozoospermia, Testicular atrophy, Delay...	ORPHA:52901
Severe X-Linked Intellectual Disability, Gustavson Type	Rocker bottom foot, Triphalangeal thumb, Severe postnatal growth retardation, Dandy-Walker malfor...	ORPHA:3078
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	Long philtrum, Thick lower lip vermilion, Macrocephaly, Optic nerve hypoplasia, Cranial asymmetry...	ORPHA:137634
Chromosome 13Q14 Deletion Syndrome	Hypoplasia of the corpus callosum, Microphthalmia, Clinodactyly of the 5th finger, Single transve...	OMIM:613884
Tropical Endomyocardial Fibrosis	Left atrial enlargement, P pulmonale, Abnormal ST segment, Ascites, Prolonged QRS complex, Cardio...	ORPHA:75565
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Overlapping fingers, Sandal gap, Short hallux, Absent dorsal skin creases over affected joints, P...	OMIM:618167
20Q13.33 Microdeletion Syndrome	Hypoplasia of the corpus callosum, Thin vermilion border, Dilation of Virchow-Robin spaces, Hypos...	ORPHA:261311
Noonan Syndrome 11	Relative macrocephaly, Hypertrophic cardiomyopathy, Pulmonic stenosis, Short stature, Thick vermi...	OMIM:618499
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Aplasia/Hypoplasia of the cerebellar vermis, Postaxial hand polydactyly, Everted lower lip vermil...	ORPHA:75389
Classic Multiminicore Myopathy	Congestive heart failure, High palate, Short stature, Right ventricular failure, Right ventricula...	ORPHA:324604
Syndactyly, Type Iv	Polydactyly, Triphalangeal thumb, 6 metacarpals, 2-3 toe syndactyly, 1-5 finger syndactyly, Posta...	OMIM:186200
Geleophysic Dysplasia 3	Limited elbow movement, Pneumonia, Polyhydramnios, Epiphyseal dysplasia, Short stature, Premature...	OMIM:617809
Ring Chromosome 21 Syndrome	Narrow palm, Short stature, Microcephaly, Abnormal heart morphology, Holoprosencephaly, Syndactyl...	ORPHA:1445
Autosomal Recessive Cutis Laxa Type 1	Pneumothorax, Congestive heart failure, Multiple bladder diverticula, Vascular dilatation, Pyelon...	ORPHA:90349
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Prolonged prothrombin time, Congestive heart failure, Polyhydramnios, Esophageal varix, Ascites, ...	ORPHA:367
Aortic Aneurysm, Familial Thoracic 10	Fusiform ascending tubular aorta aneurysm, Coronary artery atherosclerosis, Aortic root aneurysm,...	OMIM:617168
Holzgreve Syndrome	Renal agenesis, Renal hypoplasia, Hand polydactyly, Cleft upper lip, Cleft palate, Hypoplastic le...	OMIM:236110
49,Xxxxy Syndrome	Renal hypoplasia/aplasia, Hypoplasia of penis, Abnormal epiphysis morphology, Coxa valga, Taurodo...	ORPHA:96264
Multiple Benign Circumferential Skin Creases On Limbs	Congestive heart failure, Microphthalmia, Hypospadias, Short stature, Upper limb asymmetry, Micro...	ORPHA:2505
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Bilateral single transverse palmar creases, Hypospadias, Abnormality of the dentition, Arachnodac...	ORPHA:1548
Rubinstein-Taybi Syndrome 1	Broad distal phalanx of finger, Dislocated radial head, Hypoplastic iliac wing, Dental crowding, ...	OMIM:180849
Polymyositis	Abnormal atrioventricular conduction, Congestive heart failure, Gastrointestinal hemorrhage, Abno...	ORPHA:732
Megalocornea	Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy...	OMIM:309300
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Enlarged kidney, Femoral bowing, Short long bone, Short ribs, Absent tibia, Intestinal malrotatio...	OMIM:613091
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Plagiocephaly, Aganglionic megacolon, Turricephaly, Megalencephaly, Short philtrum, Macrocephaly,...	OMIM:613603
Pulmonary Hypoplasia, Primary	Neonatal death, Pulmonary hypoplasia	OMIM:265430
Cardiomyopathy, Familial Hypertrophic, 11	Congestive heart failure, Atrial flutter, Left anterior fascicular block, Left bundle branch bloc...	OMIM:612098
Kabuki Syndrome 2	Postnatal growth retardation, Atrioventricular canal defect, Dental malocclusion, Prominent finge...	OMIM:300867
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Nephrocalcinosis, Abnormal heart morphology, Long philtrum, Craniosynostosis, Exaggerated cupid's...	ORPHA:369837
Dk1-Cdg	Congestive heart failure, Progressive microcephaly, Short stature, Cardiomyocyte hypertrophy, Int...	ORPHA:91131
Cerebral Visual Impairment	Ischemic stroke, Hydrocephalus, Optic nerve hypoplasia, Microcephaly, Premature birth, Abnormal c...	ORPHA:447788
Sneddon Syndrome	Ischemic stroke, Stroke, Hypertension, Cerebral hemorrhage, Bicuspid aortic valve	OMIM:182410
Marshall-Smith Syndrome	Short mandibular rami, Prominent occiput, Optic nerve hypoplasia, Hypertension, Prominent fingert...	OMIM:602535
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Rocker bottom foot, Urinary incontinence, Polyhydramnios, Aortic aneurysm, Cerebellar vermis hypo...	OMIM:620070
16P12.1P12.3 Triplication Syndrome	Long philtrum, Thin vermilion border, High, narrow palate, Abnormal tricuspid valve morphology, H...	ORPHA:485405
Seckel Syndrome 9	Polyhydramnios, Recurrent respiratory infections, Recurrent urinary tract infections, Pulmonary a...	OMIM:616777
Mitochondrial Complex I Deficiency, Nuclear Type 11	Congestive heart failure, Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy	OMIM:618234
Insulin-Like Growth Factor I, Resistance To	Radial deviation of finger, Sandal gap, Microcephaly, Severe short stature, Intrauterine growth r...	OMIM:270450
Sotos Syndrome	Narrow palate, Abnormality of the kidney, Advanced eruption of teeth, Muscular ventricular septal...	OMIM:117550
Cerebrooculofacioskeletal Syndrome 4	Rocker bottom foot, Bilateral microphthalmos, Flexion contracture of toe, Short philtrum, Flared ...	OMIM:610758
Al Kaissi Syndrome	Postnatal growth retardation, Brachycephaly, High, narrow palate, Hypoplasia of the corpus callos...	OMIM:617694
Seizures-Scoliosis-Macrocephaly Syndrome	Abnormality of the kidney, Macrocephaly, Polyhydramnios, Microcephaly, Long philtrum, Overlapping...	ORPHA:466926
Infant Acute Respiratory Distress Syndrome	Pulmonary edema, Pneumonia, Atelectasis, Bradycardia, Cardiac arrest, Hypotension, Premature birt...	ORPHA:70587
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Orofacial cleft, 2-3 toe syndactyly, Postaxial hand polydactyly, Coarctation of aorta, Broad hall...	OMIM:217085
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Macrocephaly, Short metacarpal, Renal cyst, Short stature, Frontal bossing, Metaphyseal dysplasia...	OMIM:250410
Witteveen-Kolk Syndrome	Microphthalmia, Radial deviation of finger, Proximal placement of thumb, Microcephaly, Arachnodac...	OMIM:613406
Heart-Hand Syndrome, Slovenian Type	Syndactyly, Brachydactyly, Aplasia of the middle phalanx of the hand, Dilated cardiomyopathy, Cli...	OMIM:610140
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Palpebral edema, Dental crowding, Relative macrocephaly, Broad philtrum, Long philtrum, Aplasia/H...	ORPHA:397709
Coats Disease	Retinal detachment, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris, Cataract	ORPHA:190
Phelan-Mcdermid Syndrome	Abnormality of the kidney, Palpebral edema, Widely spaced teeth, Clinodactyly of the 5th finger, ...	OMIM:606232
Ventricular Septal Defect 1	Atrioventricular canal defect, Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Vent...	OMIM:614429
Wild Type Abeta2M Amyloidosis	Congestive heart failure, Gastrointestinal hemorrhage, Abnormality of the thenar eminence, Abnorm...	ORPHA:85446
Autism Spectrum Disorder Due To Auts2 Deficiency	Short philtrum, Joint contracture of the 5th finger, Narrow mouth, Narrow palm, Decreased palmar ...	ORPHA:352490
Coenzyme Q10 Deficiency, Primary, 7	Bradycardia, Hypertrophic cardiomyopathy, Patent ductus arteriosus, Intrauterine growth retardati...	OMIM:616276
Down Syndrome	Sandal gap, Hypoplastic iliac wing, Abnormal fetal nasal bone visualization, Broad palm, Clinodac...	OMIM:190685
Coffin-Siris Syndrome 6	Plagiocephaly, High, narrow palate, Periventricular leukomalacia, Short philtrum, Short stature, ...	OMIM:617808
Severe Congenital Nemaline Myopathy	Edema of the dorsum of hands, Breech presentation, Hypospadias, Polyhydramnios, Thin ribs, Premat...	ORPHA:171430
White Forelock With Malformations	Abnormal palate morphology, Clinodactyly of the 5th finger, Spina bifida occulta, Finger syndacty...	ORPHA:2475
Scalp-Ear-Nipple Syndrome	Congestive heart failure, Palpebral edema, Clinodactyly of the 5th finger, Unilateral renal agene...	OMIM:181270
Barth Syndrome	Congestive heart failure, 3-Methylglutaconic aciduria, Recurrent bronchitis, Hypertrophic cardiom...	OMIM:302060
Naxos Disease	Congestive heart failure, Paroxysmal ventricular tachycardia, Cardiomyopathy, Cleft upper lip, Ar...	ORPHA:34217
Refsum Disease, Classic	Congestive heart failure, Cardiomyopathy, Short fourth metatarsal, Abnormal renal physiology, Arr...	OMIM:266500
2Q32Q33 Microdeletion Syndrome	Brachycephaly, Thin vermilion border, Clinodactyly of the 5th finger, Dental crowding, Oligodonti...	ORPHA:251019
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Vesicoureteral reflux, Aortic valve stenosis, Renal hypoplasia, Submucous cleft hard palate, Mitr...	OMIM:617660
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Clinodactyly of the 5th finger, Meningocele, Glossoptosis, Renal cyst, Biparietal narrowing, Shor...	ORPHA:2031
Neurocutaneous Melanocytosis	Renal hypoplasia/aplasia, Meningocele, Dandy-Walker malformation, Intracranial hemorrhage, Ventri...	ORPHA:2481
Smith-Magenis Syndrome	Brachycephaly, Orofacial cleft, Everted upper lip vermilion, Abnormal renal morphology, Abnormali...	OMIM:182290
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Radial deviation of finger, Sandal gap, Aortic valve stenosis, Microcephaly, Premature birth, Syn...	OMIM:618164
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Left ventricular outflow tract obstruction, Right bundle branch block, ...	OMIM:613251
Hoxha-Aliu Syndrome	Contracture of the proximal interphalangeal joint of the 4th finger, Absent fifth metatarsal, Sho...	OMIM:620662
Congenital Factor V Deficiency	Spontaneous hematomas, Gastrointestinal hemorrhage, Hematuria, Post-partum hemorrhage, Gingival b...	ORPHA:326
Mucopolysaccharidosis Type 7	Diaphyseal undertubulation, Hydrops fetalis, Arteriovenous malformation, Abnormal hip bone morpho...	ORPHA:584
Cohen Syndrome	Delayed puberty, Microphthalmia, Abnormal hip bone morphology, Sandal gap, Tooth agenesis, Microc...	ORPHA:193
Esophageal Atresia	Polyhydramnios, Recurrent respiratory infections, Bronchitis, Barrett esophagus, Esophagitis, Tra...	ORPHA:1199
Severe Hemophilia A	Persistent bleeding after trauma, Gastrointestinal hemorrhage, Epidural hemorrhage, Cephalohemato...	ORPHA:169802
Orofaciodigital Syndrome Type 1	Broad alveolar ridges, Hypertension, Accessory oral frenulum, Tongue nodules, Cone-shaped epiphys...	ORPHA:2750
Morbid Obesity And Spermatogenic Failure	Congestive heart failure, Premature coronary artery atherosclerosis, Hypertension, Myocardial inf...	OMIM:615703
Kleefstra Syndrome Due To A Point Mutation	Brachycephaly, Abnormality of the kidney, Plagiocephaly, Thick lower lip vermilion, Hypoplasia of...	ORPHA:261652
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Postnatal growth retardation, Secondary microcephaly, Broad secondary alveolar ridge, High palate...	ORPHA:3369
Attrv122I Amyloidosis	Abnormal atrioventricular conduction, Congestive heart failure, Reduced left ventricular ejection...	ORPHA:85451
Chilton-Okur-Chung Neurodevelopmental Syndrome	Septo-optic dysplasia, Microcephaly, Epistaxis, Wide mouth, Mild fetal ventriculomegaly, Decrease...	OMIM:619841
Pseudo-Torch Syndrome 3	Acute kidney injury, Cerebral calcification, Hypertension, Premature birth, Proteinuria, Cerebral...	OMIM:618886
Megalencephaly	Genu valgum, Macrocephaly, Prominent occiput, Long penis, Frontal bossing, Dolichocephaly, Atrial...	ORPHA:2477
Pseudoxanthoma Elasticum, Forme Fruste	Gastrointestinal hemorrhage, High, narrow palate, Premature occlusive vascular stenosis, Arterios...	OMIM:177850
Glutaryl-Coa Dehydrogenase Deficiency	Increased head circumference, Abnormal putamen morphology, Glutaric aciduria, Progressive macroce...	ORPHA:25
Meckel Syndrome, Type 9	Occipital encephalocele, Sonographic non-visualized fetal bladder, Limb undergrowth, Multicystic ...	OMIM:614209
Chromosome 2P16.1-P15 Deletion Syndrome	Optic nerve hypoplasia, Everted lower lip vermilion, Microcephaly, Arachnodactyly, Intrauterine g...	OMIM:612513
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Dysplastic corpus callosum, Situs inversus totalis, Microphthalmia, Optic nerve hypoplasia, Polym...	OMIM:614833
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Macrocephaly at birth, Orofacial cleft, Microphthalmia, Occipital encephalocele, Hydrocephalus, T...	ORPHA:324416
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Microphthalmia, Transposition of the great arteries, Encephalocele, Lissencephaly, Hydrocephalus,...	OMIM:253800
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Hypoplasia of the corpus callosum, Plagiocephaly, Flat occiput, Recurrent respiratory infections,...	OMIM:619383
Cardiogenic Shock	Congestive heart failure, Abnormal left ventricular function, Low-output congestive heart failure...	ORPHA:97292
Myhre Syndrome	Microphthalmia, Radial deviation of finger, Hypoplastic iliac wing, Hypertension, Short long bone...	OMIM:139210
Wolf-Hirschhorn Syndrome	Hypoplastic pubic ramus, Microcephaly, Arachnodactyly, Decreased fetal movement, Intrauterine gro...	ORPHA:280
Fraser Syndrome	Microphthalmia, Renal hypoplasia/aplasia, Hypoplasia of penis, Dental crowding, Myelomeningocele,...	ORPHA:2052
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Glossoptosis, Microcephaly, Abnormal heart morphology, Long philtrum, Fibular hypoplasia, Hypospa...	ORPHA:444077
Tyshchenko Syndrome	Narrow palate, Hypoplasia of the corpus callosum, High, narrow palate, Polyhydramnios, High palat...	OMIM:615102
Mend Syndrome	Hypoplasia of the corpus callosum, Microphthalmia, Hydrocephalus, Dandy-Walker malformation, 2-3 ...	ORPHA:401973
Simple Cryoglobulinemia	Congestive heart failure, Gastrointestinal hemorrhage, Abnormality of the kidney, Purpura, Vascul...	ORPHA:91139
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Mitral valve prolapse, Cardiomyopathy, Mitral regurgitation	OMIM:258450
Carpenter Syndrome	Polydactyly, Genu valgum, Turricephaly, Craniosynostosis, Finger syndactyly, Cloverleaf skull, Po...	ORPHA:65759
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Polyhydramnios, Recurrent lower respiratory tract infections, High palate, Short stature, Microce...	OMIM:618005
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Aganglionic megacolon, Hypertension, Tapered finger, Patent ductus arteriosus, Tachycardia, Atria...	OMIM:613870
17Q23.1Q23.2 Microdeletion Syndrome	Bilateral single transverse palmar creases, Widely spaced teeth, Clinodactyly of the 5th finger, ...	ORPHA:261279
Carnitine Palmitoyltransferase Ii Deficiency	Renal tubular epithelial necrosis, Hydrocephalus, Myoglobinuria, Polycystic kidney dysplasia, Red...	ORPHA:157
Congenital Heart Defects And Skeletal Malformations Syndrome	Sandal gap, Repeated pneumothoraces, Dental crowding, Intestinal malrotation, Arachnodactyly, Int...	OMIM:617602
Combined Oxidative Phosphorylation Deficiency 11	Hypoplasia of the corpus callosum, Stillbirth, Polyhydramnios, Renal tubular acidosis, Cardiomyop...	OMIM:614922
Congenital Disorder Of Glycosylation, Type Iig	Progressive microcephaly, Short long bone, Glossoptosis, Microcephaly, Broad femoral neck, Latera...	OMIM:611209
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar...	ORPHA:3282
Periventricular Nodular Heterotopia 7	Hypoplasia of the corpus callosum, 1-4 toe syndactyly, Clinodactyly of the 5th finger, Dental cro...	OMIM:617201
2Q37 Microdeletion Syndrome	Bilateral single transverse palmar creases, Thin vermilion border, Macrocephaly, Clinodactyly of ...	ORPHA:1001
Sandhoff Disease, Infantile Form	Cerebral cortical atrophy, Cherry red spot of the macula, Mitral valve prolapse, Progressive macr...	ORPHA:309155
Hereditary Butyrylcholinesterase Deficiency	Congestive heart failure, Myocardial infarction	ORPHA:132
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Widened distal phalanges, Abnormal subclavian artery morphology, Broad distal phalanx of finger, ...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Widened distal phalanges, Abnormal subclavian artery morphology, Broad distal phalanx of finger, ...	ORPHA:353277
Robinow Syndrome, Autosomal Recessive 1	Radial deviation of finger, Mesomelic arm shortening, Dislocated radial head, Dental crowding, To...	OMIM:268310
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Macrocephaly, Arteriovenous malformation, Finger syndactyly, Hydrocephalus, Polymicrogyria, Cereb...	ORPHA:60040
Pseudoxanthoma Elasticum	Congestive heart failure, Gastrointestinal hemorrhage, Coronary artery atherosclerosis, Angina pe...	OMIM:264800
Glanzmann Thrombasthenia 1	Gastrointestinal hemorrhage, Purpura, Excessive bleeding from superficial cuts, Gingival bleeding...	OMIM:273800
Meckel Syndrome, Type 7	Situs inversus totalis, Atrial septal defect, Multiple glomerular cysts, Dandy-Walker malformatio...	OMIM:267010
Generalized Arterial Calcification Of Infancy	Calcification of the aorta, Cerebral calcification, Hypertension, Ventricular hypertrophy, Ascite...	ORPHA:51608
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Finger syndactyly, Hip dysplasia, Clinodactyly of the 5th finger, Radioulnar synostosis	ORPHA:71289
Mitochondrial Trifunctional Protein Deficiency 1	Congestive heart failure, Hydrops fetalis, Myoglobinuria, Abnormality of the amniotic fluid, Arrh...	OMIM:609015
Simpson-Golabi-Behmel Syndrome	Ureteral duplication, Prolonged QT interval, Hypoplasia of penis, Cardiomyopathy, Broad thumb, Wi...	ORPHA:373
Congenital Myopathy 22B, Severe Fetal	Breech presentation, Dental crowding, Ascites, Nonimmune hydrops fetalis, Decreased fetal movemen...	OMIM:620369
Roberts Syndrome	Bilateral single transverse palmar creases, Microphthalmia, Radial deviation of finger, Mesomelic...	ORPHA:3103
Diamond-Blackfan Anemia	Abnormality of the thenar eminence, Abnormality of the upper limb, Microcephaly, Abnormal heart m...	ORPHA:124
Trisomy 8P	Clinodactyly of the 5th toe, Clinodactyly of the 2nd finger, Microcephaly, Nephrocalcinosis, Bifi...	ORPHA:264450
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Postnatal growth retardation, Hypoplasia of the corpus callosum, Recurrent urinary tract infectio...	OMIM:620210
Say Syndrome	Ulnar deviation of the 3rd finger, Short stature, Microcephaly, Cleft palate, Proximal renal tubu...	OMIM:181180
German Syndrome	Brachycephaly, Orofacial cleft, Lymphedema, High palate, Everted lower lip vermilion, Short statu...	ORPHA:2077
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Recurrent bronchitis, Atelectasis	OMIM:300455
Potocki-Lupski Syndrome	Hypoplasia of the corpus callosum, Dental malocclusion, Abnormal renal morphology, Patent foramen...	OMIM:610883
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Proximal placement of thumb, Hypospadias, Cardiomyopathy, Microcephaly, Short palm, Downturned co...	OMIM:217980
Intellectual Developmental Disorder, Autosomal Recessive 33	Short toe, Syndactyly	OMIM:614341
Hypogonadism-Cataract Syndrome	Infertility, Elevated circulating follicle stimulating hormone level, Hypogonadism, Cataract, Mal...	OMIM:240950
Pallister-Killian Syndrome	Relative macrocephaly, Everted lower lip vermilion, Aortic valve stenosis, Intestinal malrotation...	OMIM:601803
Opitz Gbbb Syndrome	Tracheoesophageal fistula, Microcephaly, Abnormal heart morphology, Recurrent aspiration pneumoni...	ORPHA:2745
Coffin-Siris Syndrome 4	Everted upper lip vermilion, Pulmonic stenosis, Microcephaly, Prominent interphalangeal joints, W...	OMIM:614609
Glycogen Storage Disease Due To Acid Maltase Deficiency	Dilatation of the cerebral artery, Atelectasis, Thoracic aortic aneurysm, Left ventricular outflo...	ORPHA:365
Diaphanospondylodysostosis	Missing ribs, Myelomeningocele, Cleft palate, Narrow pelvis bone, Multiple renal cysts	ORPHA:66637
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Brachycephaly, Microphthalmia, Encephalocele, Conical tooth, Abnormality of the dentition, Corona...	ORPHA:228390
Brachydactyly, Type B1	Aplasia/Hypoplasia of the distal phalanges of the hand, Short long bone, Camptodactyly, Type B br...	OMIM:113000
Muenke Syndrome	Brachycephaly, Capitate-hamate fusion, Plagiocephaly, Radial deviation of finger, Macrocephaly, C...	OMIM:602849
9Q21.13 Microdeletion Syndrome	Polydactyly, Postnatal growth retardation, Abnormal tongue morphology, Downturned corners of mout...	ORPHA:531151
Congenital Factor Ii Deficiency	Prolonged prothrombin time, Abnormal bleeding, Cephalohematoma, Excessive bleeding from superfici...	ORPHA:325
Combined Oxidative Phosphorylation Defect Type 27	Hypoplasia of the corpus callosum, Diffuse cerebral atrophy, Nonimmune hydrops fetalis, Abnormal ...	ORPHA:477774
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Macrocephaly at birth, Flexion contracture of toe, Prominent occiput, Wide mouth, Recurrent aspir...	ORPHA:280633
Cranioacrofacial Syndrome	Pulmonic stenosis, Dupuytren contracture, Ventricular septal defect, Abnormal hand morphology	OMIM:122850
Meckel Syndrome, Type 3	Polydactyly, Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation, Postaxial hand po...	OMIM:607361
Potocki-Shaffer Syndrome	Brachycephaly, Turricephaly, Short philtrum, Single transverse palmar crease, Parietal foramina, ...	OMIM:601224
16P13.11 Microdeletion Syndrome	Microcephaly, Exaggerated cupid's bow, Short stature, Camptodactyly of finger, Cleft upper lip, C...	ORPHA:261236
Neurocardiofaciodigital Syndrome	Polydactyly, Thin vermilion border, Hypoplasia of the corpus callosum, Double inlet left ventricl...	OMIM:619869
Cataract 50 With Or Without Glaucoma	Retinal detachment, Persistent pupillary membrane, Cataract	OMIM:620253
Leopard Syndrome 1	Delayed puberty, Limited elbow movement, Pulmonic stenosis, Mitral valve prolapse, Hypospadias, S...	OMIM:151100
Maternal Uniparental Disomy Of Chromosome 2	Postnatal growth retardation, Respiratory infections in early life, Clinodactyly of the 5th finge...	ORPHA:96179
Congenital Myopathy 5 With Cardiomyopathy	Congestive heart failure, Arrhythmia, Severely reduced left ventricular ejection fraction, Atriov...	OMIM:611705
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Bilateral single transverse palmar creases, Renal hypoplasia/aplasia, Non-midline cleft of the up...	ORPHA:1770
Propionic Acidemia	Cerebral atrophy, Cerebellar hemorrhage, Increased level of hippuric acid in urine, Hyperglycinur...	OMIM:606054
Renal Hypodysplasia/Aplasia 1	Bilateral renal agenesis, Hypertension, Pulmonary hypoplasia, Proteinuria, Renal dysplasia, Anhyd...	OMIM:191830
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Hypoplasia of the corpus callosum, Long philtrum, Proximal placement of thumb, Short philtrum, 2-...	OMIM:619121
Familial Cerebral Saccular Aneurysm	Encephalomalacia, Aortic root aneurysm, Hypertension, Transient ischemic attack, Aortic dissectio...	ORPHA:231160
Scheie Syndrome	Aortic regurgitation, Everted lower lip vermilion, Mucopolysacchariduria, Wide mouth, Thick vermi...	ORPHA:93474
Multiple Acyl-Coa Dehydrogenase Deficiency	Congestive heart failure, Glutaric aciduria, Macrocephaly, Polycystic kidney dysplasia, Cardiomyo...	ORPHA:26791
Microcephaly 26, Primary, Autosomal Dominant	Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Patent foramen ovale, Gingival ove...	OMIM:619179
Lethal Congenital Contracture Syndrome Type 1	Polyhydramnios, Abnormal hip bone morphology, Slender long bone, Abnormal rib morphology, Short s...	ORPHA:1486
Non-Functioning Paraganglioma	Congestive heart failure, Hematuria, Hypertension associated with pheochromocytoma, Sinus tachyca...	ORPHA:94080
Al-Gazali-Bakalinova Syndrome	Polydactyly, Hypoplasia of the corpus callosum, Genu valgum, Macrocephaly, Triangular mouth, Lymp...	OMIM:607131
Congenital Total Pulmonary Venous Return Anomaly	Cardiomegaly, Mixed total anomalous pulmonary venous connection, Transposition of the great arter...	ORPHA:99125
Hepatorenocardiac Degenerative Fibrosis	Enlarged kidney, Tubular luminal dilatation, Renal interstitial fibrosis, Hypertrophic cardiomyop...	OMIM:619902
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Long philtrum, Plagiocephaly, Macrocephaly, Cavum septum pellucidum, Patent foramen ovale, Abnorm...	ORPHA:457279
Acalvaria	Abnormal lung lobation, Hydrocephalus, Postaxial hand polydactyly, Spina bifida, Cleft palate, Ho...	ORPHA:945
Lissencephaly 8	Hypoplasia of the corpus callosum, Occipital encephalocele, Microphthalmia, Polymicrogyria, Type ...	OMIM:617255
Trisomy 20P	Abnormal hip bone morphology, Everted lower lip vermilion, Microdontia, Multiple renal cysts, Umb...	ORPHA:261318
Holzgreve Syndrome	Single umbilical artery, Renal hypoplasia/aplasia, Turricephaly, Abnormal metacarpal morphology, ...	ORPHA:2167
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Brachycephaly, Long philtrum, Microphthalmia, Abnormal femoral neck/head morphology, Abnormality ...	ORPHA:163649
Au-Kline Syndrome	Breech presentation, Hypertension, Lipomyelomeningocele, Bifid uvula, Craniosynostosis, Overlappi...	OMIM:616580
Moebius Syndrome	Microphthalmia, Radial deviation of finger, Hypoplasia of the brainstem, Split hand, Abnormal pel...	OMIM:157900
Band Heterotopia	Plagiocephaly, Macrocephaly, Hydrocephalus, Polymicrogyria, Agenesis of corpus callosum, Lateral ...	OMIM:600348
Methylmalonic Acidemia With Homocystinuria Type Cblf	Unilateral renal agenesis, Stomatitis, Glossitis, Growth delay, Cleft palate, Abnormal heart morp...	ORPHA:79284
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Long philtrum, Microphthalmia, Inferior cerebellar vermis hypoplasia, Short stature, Frontal boss...	OMIM:618571
Congenital Heart Defects, Multiple Types, 6	Transposition of the great arteries, Left ventricular outflow tract obstruction, Hypoplastic pulm...	OMIM:613854
Relapsing Polychondritis	Myocarditis, Abnormal endocardium morphology, Large vessel vasculitis, Abnormal aortic valve morp...	ORPHA:728
Basal Cell Nevus Syndrome 1	Microphthalmia, Cardiac rhabdomyoma, Hamartomatous stomach polyps, Calcification of falx cerebri,...	OMIM:109400
Meckel Syndrome, Type 11	Polydactyly, Polycystic kidney dysplasia, Occipital encephalocele, Oligohydramnios	OMIM:615397
Joubert Syndrome 3	Nephronophthisis, Thin corpus callosum, Cerebellar vermis hypoplasia, Frontal polymicrogyria, Enl...	OMIM:608629
Fetal Akinesia Deformation Sequence	Polyhydramnios, Dandy-Walker malformation, Intestinal hypoplasia, Camptodactyly of finger, Cleft ...	ORPHA:994
Blomstrand Lethal Chondrodysplasia	Neonatal short-limb short stature, Long philtrum, Hydrops fetalis, Rhizomelia, Polyhydramnios, Fl...	ORPHA:50945
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Microphthalmia, Microdontia, Microcephaly, Intrauterine growth retardation, Craniosynostosis, Pat...	OMIM:620005
Ciliary Dyskinesia, Primary, 33	Atelectasis, Recurrent lower respiratory tract infections, Recurrent bronchitis, Recurrent pneumo...	OMIM:616726
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Microphthalmia, Microcornea, Corneal opacity, Retinal nonattachment, Persistent pupillary membran...	OMIM:221900
Microphthalmia, Syndromic 6	Microphthalmia, Inferior cerebellar vermis hypoplasia, Microcephaly, Bifid uvula, Ventriculomegal...	OMIM:607932
Classical Ehlers-Danlos Syndrome	Dislocated radial head, Arteriovenous fistula, Arterial dissection, Premature birth, Bruising sus...	ORPHA:287
Long Qt Syndrome 13	Congestive heart failure, Reduced left ventricular ejection fraction, Prolonged QTc interval, Syn...	OMIM:613485
Cockayne Syndrome Type 1	Optic atrophy, Anophthalmia, Cryptorchidism, Proteinuria, Conjunctivitis, Cataract, Male hypogona...	ORPHA:90321
Oculodentodigital Dysplasia	Microphthalmia, Joint contracture of the 5th finger, Broad alveolar ridges, Microdontia, Microcep...	OMIM:164200
Cardiomyopathy, Dilated, 2B	Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular e...	OMIM:614672
Peroxisome Biogenesis Disorder 2A (Zellweger)	Palpebral edema, Turricephaly, Cubitus valgus, Polycystic kidney dysplasia, Single transverse pal...	OMIM:214110
Hypotonia, Infantile, With Psychomotor Retardation	Hypoplasia of the corpus callosum, Open mouth, Decreased fetal movement, Lateral ventricle dilata...	OMIM:616816
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Triphalangeal thumb, Multicystic kidney dysplasia, Preaxial foot polydactyly, Postaxial hand poly...	ORPHA:2091
Clark-Baraitser Syndrome	Brachycephaly, Short philtrum, Sandal gap, Exaggerated cupid's bow, High palate, Microcephaly, Do...	OMIM:617752
Kapur-Toriello Syndrome	Dysplastic corpus callosum, Orofacial cleft, Microphthalmia, Hypoplasia of penis, Polymicrogyria,...	ORPHA:2328
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Short ribs, Trigonocephaly, Microcephaly, Aplasia of the epiglottis, Cer...	OMIM:615948
Baller-Gerold Syndrome	Brachyturricephaly, Intrauterine growth retardation, Abnormal cardiac septum morphology, Abnormal...	ORPHA:1225
3Q29 Microduplication Syndrome	Microphthalmia, Macrocephaly, Aniridia, Sandal gap, Craniosynostosis, Ectopic anus, High palate, ...	ORPHA:251038
Shashi-Pena Syndrome	Macrocephaly, Deep palmar crease, Unilateral renal agenesis, Dilation of Virchow-Robin spaces, Sh...	OMIM:617190
Hallermann-Streiff Syndrome	Microphthalmia, Hypertension, Everted lower lip vermilion, Microcephaly, Thin calvarium, Telangie...	OMIM:234100
Dextrocardia	Abnormal lung lobation, Situs inversus totalis, Dextrocardia, Meckel diverticulum, Abnormal renal...	ORPHA:1666
Senior-Loken Syndrome	Premature ovarian insufficiency, Nephronophthisis, Abnormality of retinal pigmentation, Chronic k...	ORPHA:3156
Ciliary Dyskinesia, Primary, 21	Bronchiectasis, Recurrent pneumonia, Atelectasis	OMIM:615294
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Hypoplastic iliac wing, Microdontia, Tooth agenesis, Microcephaly, Abnormal cerebral vascular mor...	ORPHA:2637
Hemochromatosis, Type 2A	Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Arrhythmia	OMIM:602390
Lujan-Fryns Syndrome	Brachycephaly, Macrocephaly, Aplasia/Hypoplasia of the corpus callosum, Short philtrum, Dental cr...	ORPHA:776
Distal Xq28 Microduplication Syndrome	Thick lower lip vermilion, Predominantly lower limb lymphedema, Dental crowding, Patent foramen o...	ORPHA:293939
Familial Multiple Nevi Flammei	Arteriovenous malformation, Venous insufficiency, Cerebral calcification, Abnormality of the uppe...	ORPHA:624
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Secondary microcephaly, Abnormality of the hand, Urinary incontinence, Clinodactyly of the 5th fi...	ORPHA:476126
Phaver Syndrome	Triphalangeal thumb, Hypoplastic aortic arch, Pulmonary artery atresia, Myelomeningocele, Abnorma...	ORPHA:2876
Desmosterolosis	Renal hypoplasia/aplasia, Microcephaly, Intestinal malrotation, Bifid uvula, Severe short stature...	ORPHA:35107
Smith-Magenis Syndrome	Delayed puberty, Renal hypoplasia/aplasia, Microcephaly, Decreased fetal movement, Ventriculomega...	ORPHA:819
Acrofacial Dysostosis 1, Nager Type	Radial deviation of finger, Microcephaly, Premature birth, Wide mouth, Absent thumb, Absent radiu...	OMIM:154400
Immune Thrombocytopenia	Gastrointestinal hemorrhage, Purpura, Hematuria, Petechiae, Gingival bleeding, Epistaxis, Cerebra...	ORPHA:3002
Intellectual Developmental Disorder, Autosomal Recessive 79	Clinodactyly of the 5th finger, Short hallux, Slender finger, Long fingers, Smooth philtrum, Vent...	OMIM:620393
Houge-Janssens Syndrome 3	Hypoplasia of the corpus callosum, Plagiocephaly, Muscular ventricular septal defect, Macrocephal...	OMIM:618354
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Congestive heart failure, Recurrent lower respiratory tract infections, Delayed eruption of teeth...	ORPHA:508542
Gordon Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, High palate, Short stature, Camptodactyly of f...	ORPHA:376
Paternal Uniparental Disomy Of Chromosome 5	Posterior plagiocephaly, Polyhydramnios, Abnormally large globe, Abnormal fibular epiphysis morph...	ORPHA:96190
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Brachycephaly, High palate, Short stature, Dextrotransposition of the great arteries, Brachydacty...	OMIM:619995
Potocki-Shaffer Syndrome	Delayed puberty, Brachycephaly, Short philtrum, Parietal foramina, Hypertension, Downturned corne...	ORPHA:52022
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency	Persistent bleeding after trauma, Gastrointestinal hemorrhage, Epidural hemorrhage, Post-partum h...	ORPHA:465
Adenylosuccinate Lyase Deficiency	Brachycephaly, Flat occiput, Hypointensity of cerebral white matter on MRI, Microcephaly, Smooth ...	ORPHA:46
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Intestinal pseudo-obstruction, Optic nerve hypoplasia, Abnormality of primary teeth, Tooth agenes...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Intestinal pseudo-obstruction, Optic nerve hypoplasia, Abnormality of primary teeth, Tooth agenes...	ORPHA:352665
Short Stature-Micrognathia Syndrome	Penoscrotal hypospadias, Rhizomelia, 2-3 toe syndactyly, High palate, Short stature, Broad femora...	OMIM:617164
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Thick lower lip vermilion, Clinodactyly of the 5th finger, Thin corpus callosum, Single transvers...	OMIM:620075
Zellweger Syndrome	Macrocephaly, Hypospadias, Epiphyseal stippling, Polymicrogyria, High palate, Thickened nuchal sk...	ORPHA:912
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Thick lower lip vermilion, Short philtrum, Atrial septal defect, Ventricular septal defect, Widel...	OMIM:608227
7Q11.23 Microduplication Syndrome	Aortic valve stenosis, Craniosynostosis, Ventriculomegaly, Hypospadias, Short philtrum, Hydroceph...	ORPHA:96121
Cenani-Lenz Syndactyly Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Ectopic kidney, Metacarpal synostosis, Pulmonic...	OMIM:212780
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Bilateral single transverse palmar creases, Abnormal thumb morphology, Brachycephaly, Abnormality...	ORPHA:2511
Char Syndrome	Clinodactyly of the 5th finger, Triangular mouth, Short philtrum, Prominent occiput, Symphalangis...	ORPHA:46627
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Camptodactyly, Pulmonic stenosis, Pyloric stenosis, Overlapping toe, Atrial septal defect, Ventri...	OMIM:614262
Ellis-Van Creveld Syndrome	Disproportionate short-limb short stature, Hypoplastic iliac wing, Short long bone, Short ribs, C...	OMIM:225500
Snijders Blok-Campeau Syndrome	Perimembranous ventricular septal defect, Widely spaced teeth, Thin corpus callosum, Macrocephaly...	OMIM:618205
Intellectual Developmental Disorder, Autosomal Dominant 26	Brachycephaly, Clinodactyly of the 5th finger, Short philtrum, Narrow mouth, Decreased palmar cre...	OMIM:615834
Wagr Syndrome	Displacement of the urethral meatus, Cataract, Ambiguous genitalia, Aplasia/Hypoplasia of the iri...	ORPHA:893
Methylcobalamin Deficiency Type Cble	Postnatal growth retardation, Glomerulopathy, Hemolytic-uremic syndrome, Hydrocephalus, Hypertens...	ORPHA:2169
Noonan Syndrome 4	Abnormal bleeding, Ureteral duplication, Cubitus valgus, Macrocephaly, Dental malocclusion, Polyh...	OMIM:610733
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Congestive heart failure, Hip subluxation, High, narrow palate, Vascular dilatation, Abnormal ble...	ORPHA:1900
Lambotte Syndrome	Semilobar holoprosencephaly, Narrow mouth, Microcephaly, Intrauterine growth retardation, Ventric...	OMIM:245552
Reversible Cerebral Vasoconstriction Syndrome	Ischemic stroke, Abnormal bleeding, Dilatation of the cerebral artery, Transient ischemic attack,...	ORPHA:284388
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Abnormal bleeding, Renal tubular acidosis, Patent foramen ovale, Dehydration, Microcephaly, Oligo...	OMIM:208085
Cartilage-Hair Hypoplasia	Abnormal hip bone morphology, Disproportionate short-limb short stature, Tibial bowing, Cardiomyo...	ORPHA:175
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Optic nerve hypoplasia, Relative macrocephaly, Arachnodactyly, Abnormal heart morphology, Absent ...	ORPHA:500150
Noonan Syndrome With Multiple Lentigines	Abnormal endocardium morphology, Brachycephaly, Atrioventricular canal defect, Vascular dilatatio...	ORPHA:500
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Ascites, Renal cyst, Dilatation of the cerebral artery	OMIM:174050
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Vascular dilatation, Atelectasis, Delayed eruption of teeth, Gingivitis, Abnormality of the denti...	ORPHA:2314
Cardiomyopathy, Dilated, 2J	Congestive heart failure, Dilated cardiomyopathy, Secundum atrial septal defect, Severely reduced...	OMIM:620635
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Atelectasis, Recurrent lower respiratory tract infections, Reduced left ventricular ejection frac...	ORPHA:258
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Ritscher-Schinzel Syndrome 4	Narrow palate, Brachycephaly, Plagiocephaly, Decreased fetal movement, Short philtrum, Dandy-Walk...	OMIM:619435
Silver-Russell Syndrome Due To A Point Mutation	Polydactyly, Postnatal growth retardation, Clinodactyly of the 5th finger, Hypospadias, Small pla...	ORPHA:397590
1P36 Deletion Syndrome	Hypoplasia of penis, Abnormal intestine morphology, Microcephaly, Abnormality of the anus, Long p...	ORPHA:1606
Monosomy 9Q22.3	Polydactyly, Long philtrum, Microphthalmia, Orofacial cleft, Macrocephaly, Palmar pits, Delayed e...	ORPHA:77301
Ciliary Dyskinesia, Primary, 1	Situs inversus totalis, Atelectasis, Recurrent bronchitis, Bronchiectasis, Communicating hydrocep...	OMIM:244400
Fanconi Anemia, Complementation Group R	Microphthalmia, Radial dysplasia, Hydrocephalus, Pelvic kidney, Anal atresia, Growth delay, Micro...	OMIM:617244
Coffin-Siris Syndrome 1	Duodenal ulcer, Ectopic kidney, Sandal gap, Dislocated radial head, Prominent fingertip pads, Mic...	OMIM:135900
Cardiofaciocutaneous Syndrome 1	Relative macrocephaly, Pulmonic stenosis, Premature birth, Deep palmar crease, Hydrocephalus, Abn...	OMIM:115150
Bannayan-Riley-Ruvalcaba Syndrome	Narrow palate, Macrocephaly, Intestinal polyposis, Arteriovenous malformation, Aortic aneurysm, A...	ORPHA:109
Isolated Polycystic Liver Disease	Gastrointestinal hemorrhage, Vascular dilatation, Multiple renal cysts	ORPHA:2924
Isolated Klippel-Feil Syndrome	Renal hypoplasia/aplasia, Abnormal shoulder morphology, Ectopic anus, Anal atresia, Spina bifida,...	ORPHA:2345
Curry-Jones Syndrome	Microphthalmia, Megalencephaly, Intestinal pseudo-obstruction, Lipomyelomeningocele, Hemimegalenc...	OMIM:601707
3-Methylglutaconic Aciduria Type 7	Cerebral atrophy, 3-Methylglutaconic aciduria, Pneumothorax, Primary microcephaly, Abnormal basal...	ORPHA:445038
Laurence-Moon Syndrome	Hypoplasia of penis, Displacement of the urethral meatus, Type II diabetes mellitus, Cataract, Cr...	ORPHA:2377
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Plagiocephaly, Macrocephaly, Sandal gap, Tapered finger, Everted lower lip vermilion, Narrow mout...	OMIM:618089
Pde4D Haploinsufficiency Syndrome	Short metacarpal, Broad metatarsal, Intrauterine growth retardation, Long philtrum, Cone-shaped e...	ORPHA:439822
Parkes Weber Syndrome	Arteriovenous malformation, Arteriovenous fistula, Abnormality of the upper limb, Bounding pulse,...	ORPHA:90307
Coffin-Siris Syndrome 7	Single umbilical artery, Thick lower lip vermilion, Clinodactyly of the 5th finger, Polyhydramnio...	OMIM:618027
Gaucher Disease Type 3	Delayed puberty, Abnormal pulmonary interstitial morphology, Hydrops fetalis, Hematuria, Abnormal...	ORPHA:77261
Wolf-Hirschhorn Syndrome	Microcephaly, Decreased fetal movement, Malrotation of small bowel, Intrauterine growth retardati...	OMIM:194190
Primary Angiitis Of The Central Nervous System	Stroke, Transient ischemic attack, Recurrent subcortical infarcts, Multifocal cerebral white matt...	ORPHA:140989
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Decreased fetal movement, Polyhydramnios, Cleft soft palate, Tricuspid regurgitation, Aortic rupt...	OMIM:614557
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hyperinsulinemia, Secondary amenorrhea, Hypergonadotropic hypogonadism, Decreased testicular size...	ORPHA:3085
Mend Syndrome	Polydactyly, Hydrocephalus, Dandy-Walker malformation, 2-3 toe syndactyly, High palate, Aortic va...	OMIM:300960
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Cataract, Hypogonadism	OMIM:254000
Incontinentia Pigmenti	Microphthalmia, Cerebral ischemia, Umbilical hernia, Pulmonary arterial hypertension, Retinal hem...	ORPHA:464
Neuralgic Amyotrophy	Scapular winging, Narrow mouth, Short stature, Bifid uvula, Cleft palate, Upper limb amyotrophy, ...	ORPHA:2901
Coffin-Siris Syndrome	Microcephaly, Abnormal heart morphology, Wide mouth, Broad philtrum, Intrauterine growth retardat...	ORPHA:1465
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Brachycephaly, Clinodactyly of the 5th finger, Short distal phalanx of toe, Biparietal narrowing,...	ORPHA:1292
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Thin corpus callosum, Dilation of Virchow-Robin spaces, Dislocated radial head, Microcephaly, Lon...	OMIM:619512
Hajdu-Cheney Syndrome	Genu valgum, Fibular bowing, Hypospadias, Osteolytic defects of the phalanges of the hand, Dental...	OMIM:102500
Prader-Willi Syndrome Due To Translocation	Everted lower lip vermilion, Microcephaly, Abnormal heart morphology, Bifid uvula, Wide mouth, La...	ORPHA:177907
Alkaptonuria	Coronary artery calcification, Atherosclerosis, Aortic aneurysm, Abnormal heart valve morphology,...	ORPHA:56
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia, Single transverse palmar crease, High palate, Hypertrophic cardiomyopathy, Renal ...	OMIM:619053
7Q31 Microdeletion Syndrome	Postnatal growth retardation, Plagiocephaly, Macrocephaly, Galactosuria, Clinodactyly of the 2nd ...	ORPHA:251061
Arterial Calcification, Generalized, Of Infancy, 1	Congestive heart failure, Fetal distress, Hypertension, Renal artery stenosis, Short stature, Gen...	OMIM:208000
Cardioacrofacial Dysplasia 1	Atrioventricular canal defect, Genu valgum, Short philtrum, Conical tooth, Postaxial polydactyly,...	OMIM:619142
Orofaciodigital Syndrome Viii	Polydactyly, High palate, Short stature, Cleft palate, Recurrent aspiration pneumonia, Syndactyly...	OMIM:300484
Trigonocephaly With Short Stature And Developmental Delay	Lambdoidal craniosynostosis, Clinodactyly of the 5th finger, Broad alveolar ridges, High palate, ...	OMIM:314320
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Rocker bottom foot, Brachycephaly, Lambdoidal craniosynostosis, Ulnar bowing, Hydrocephalus, Abno...	OMIM:207410
Bardet-Biedl Syndrome 8	Brachycephaly, Situs inversus totalis, Hypospadias, Postaxial polydactyly, Renal dysplasia	OMIM:615985
Peters-Plus Syndrome	Limited elbow movement, Square pelvis bone, Ureteral duplication, Proximal placement of thumb, Di...	OMIM:261540
Developmental And Epileptic Encephalopathy 1	Plagiocephaly, Microphthalmia, Global brain atrophy, Growth delay, Microcephaly, Ventriculomegaly...	OMIM:308350
Ulbright-Hodes Syndrome	Prominent occiput, Short ribs, Severe intrauterine growth retardation, Short metacarpal, Mesomeli...	ORPHA:3404
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Congestive heart failure, Dicarboxylic aciduria, Ethylmalonic aciduria, Increased urine alpha-ket...	OMIM:619355
Congenital Heart Defects, Multiple Types, 4	Atrioventricular canal defect, Left ventricular outflow tract obstruction, Aortic valve stenosis,...	OMIM:615779
Acromegaly	Macrodactyly, Palpebral edema, Cortical diaphyseal thickening of the upper limbs, Deep palmar cre...	ORPHA:963
Monosomy 5P	Finger syndactyly, High palate, Short stature, Microcephaly, Intrauterine growth retardation, Sma...	ORPHA:281
Pseudoaminopterin Syndrome	Clinodactyly of the 5th toe, Limited elbow movement, Microdontia, Overlapping toe, Clinodactyly o...	ORPHA:221120
Gabriele-De Vries Syndrome	Thick lower lip vermilion, Sandal gap, Cortical dysplasia, Patent foramen ovale, High palate, Abn...	OMIM:617557
Aymé-Gripp Syndrome	Rocker bottom foot, Pericarditis, Long philtrum, Craniosynostosis, Ventriculomegaly, Reduced arm ...	ORPHA:1272
Distal Deletion 12Q	Ectopic kidney, Microcephaly, Aplasia/Hypoplasia of the middle phalanx of the 3rd finger, Long ph...	ORPHA:96149
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Postnatal growth retardation, Perimembranous ventricular septal defect, Single transverse palmar ...	ORPHA:83617
Cardiofaciocutaneous Syndrome	Pulmonic stenosis, Premature birth, Long philtrum, Deep palmar crease, Hydrocephalus, Biparietal ...	ORPHA:1340
Fetal Alcohol Syndrome	Microphthalmia, Non-midline cleft of the upper lip, Microdontia, Biparietal narrowing, Short stat...	ORPHA:1915
Coffin-Lowry Syndrome	Short metacarpal, Everted lower lip vermilion, Microcephaly, Broad palm, Ventriculomegaly, Coxa v...	OMIM:303600
Chopra-Amiel-Gordon Syndrome	Postnatal growth retardation, Brachycephaly, Macrocephaly, Unilateral renal agenesis, Short philt...	OMIM:619504
Hemochromatosis, Type 2B	Congestive heart failure, Cardiomyopathy	OMIM:613313
Bardet-Biedl Syndrome 2	Postaxial hand polydactyly, Bicuspid aortic valve, Atrial septal defect, Dilated cardiomyopathy, ...	OMIM:615981
Spondyloepimetaphyseal Dysplasia, Krakow Type	Delayed pubic bone ossification, Rhizomelia, Irregular epiphyses, Clinodactyly of the 5th finger,...	OMIM:618162
Syndactyly Type 3	Finger syndactyly, Camptodactyly of finger, Short toe	ORPHA:93404
Cleidocranial Dysplasia	Glossoptosis, Abnormal epiphysis morphology, Abnormal metacarpal morphology, Abnormality of the d...	ORPHA:1452
Joubert Syndrome 1	Plagiocephaly, Macrocephaly, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Postaxial...	OMIM:213300
Long Qt Syndrome 3	Torsade de pointes, Hydrops fetalis, Prolonged QTc interval, Ventricular flutter, Ventricular fib...	OMIM:603830
Leukoencephalopathy With Calcifications And Cysts	Cerebral calcification, Stroke, Intracerebral periventricular calcifications, Cerebral hemorrhage...	ORPHA:542310
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Optic nerve hypoplasia, Abnormal periventricular white matter morphology, Microcephaly, Olivopont...	ORPHA:468631
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Congestive heart failure, Dilated cardiomyopathy, Hypertension, Hypertrophic cardiomyopathy	ORPHA:1349
Alg12-Cdg	Prolonged prothrombin time, Proximal placement of thumb, Sandal gap, Progressive microcephaly, Sh...	ORPHA:79324
Roberts-Sc Phocomelia Syndrome	Microphthalmia, Radial deviation of finger, Severe intrauterine growth retardation, Wrist flexion...	OMIM:268300
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Clinodactyly of the 5th finger, Sandal gap, Short philtrum, Single transverse palmar crease, 2-3 ...	OMIM:617061
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Macrocephaly, Lissencephaly, Hydrocephalus, Right atrial enlargement, Communicating hydrocephalus...	OMIM:615219
Tricuspid Atresia	Hypoplasia of right ventricle, Transposition of the great arteries, Tricuspid atresia, Patent for...	ORPHA:1209
Jawad Syndrome	Single interphalangeal crease of fifth finger, Short middle phalanx of the 5th finger, 4-5 toe sy...	OMIM:251255
Conotruncal Heart Malformations	Transposition of the great arteries, Truncus arteriosus, Postaxial polydactyly, Coarctation of ao...	OMIM:217095
Chromosome 1P36 Deletion Syndrome, Distal	Ectopic kidney, Microcephaly, Bifid uvula, Lateral ventricle dilatation, Abnormality of the anus,...	OMIM:607872
Cutis Laxa, Autosomal Dominant 2	Mitral regurgitation	OMIM:614434
Renal Tubular Dysgenesis	Abnormality of the urinary system, Anuria, Hypotension, Microcephaly, Oligohydramnios, Pulmonary ...	OMIM:267430
Galloway-Mowat Syndrome 1	Microphthalmia, Microcephaly, Wide mouth, Intrauterine growth retardation, Ventriculomegaly, Olig...	OMIM:251300
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Hepatic arteriovenous malformation, Aortic aneurysm, Stroke, Clubbing, Hamartomatous polyposis, A...	OMIM:175050
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome	Delayed puberty, Abnormal thumb morphology, Abnormality of the wrist, Proximal placement of thumb...	ORPHA:1825
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Cataract, Abnormality of the ovary, Hypogonadism, Decreased testicular size	ORPHA:1875
Blepharophimosis-Impaired Intellectual Development Syndrome	Thin corpus callosum, Microdontia, Wide mouth, Short distal phalanx of finger, Hypospadias, Short...	OMIM:619293
Lambert Syndrome	Hypospadias, Branchial anomaly, Wide mouth, Intrauterine growth retardation, Ventricular septal d...	ORPHA:1296
Aorta Coarctation	Congestive heart failure, Perimembranous ventricular septal defect, Cardiomegaly, Hypoplastic aor...	ORPHA:1457
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Retinal arteriolar tortuosity, Hematuria, Supraventricular arrhythmia, Retinal hemorrhage, Renal ...	OMIM:611773
Stromme Syndrome	Stillbirth, Preaxial polydactyly, Microphthalmia, Hydrocephalus, Optic nerve hypoplasia, Cerebell...	OMIM:243605
Subaortic Stenosis-Short Stature Syndrome	Bilateral single transverse palmar creases, Microphthalmia, Membranous subvalvular aortic stenosi...	ORPHA:3191
Diamond-Blackfan Anemia 7	Fetal distress, Polyhydramnios, Triphalangeal thumb, Vesicoureteral reflux, Esophagitis, Growth d...	OMIM:612562
Kyphoscoliotic Ehlers-Danlos Syndrome	Decreased fetal movement, Abnormality of the hand, Dextrocardia, Talipes equinovarus, Aortic aneu...	ORPHA:536545
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Clinodactyly of the 5th finger, Intestinal malrotation, Pulmonary hypoplasia, Syndactyly, Toe syn...	OMIM:601163
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Protein-losing enteropathy, Polyhydramnios, Thyroid lymphangiectasia, Pancreatic lymphangiectasis...	OMIM:235255
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Tessier cleft, Bilateral cleft palate, Anterior encephalocele, Cleft upper lip, Foot oligodactyly...	OMIM:601357
Hypergonadotropic Hypogonadism-Cataract Syndrome	Delayed puberty, Absence of secondary sex characteristics, Hypergonadotropic hypogonadism, Second...	ORPHA:2410
Cornelia De Lange Syndrome	Bilateral single transverse palmar creases, Delayed puberty, Proximal placement of thumb, Hypopla...	ORPHA:199
Cockayne Syndrome Type 3	Microphthalmia, Progressive microcephaly, Cardiomyopathy, Subcortical white matter calcifications...	ORPHA:90324
19P13.3 Microduplication Syndrome	Cerebral atrophy, Hip subluxation, Short philtrum, Narrow mouth, Pulmonary arterial hypertension,...	ORPHA:447980
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Brachycephaly, Plagiocephaly, Transposition of the great arteries, Patent foramen ovale, Everted ...	OMIM:616789
3-Methylglutaconic Aciduria, Type Viib	Cerebral atrophy, Congestive heart failure, 3-Methylglutaconic aciduria, Polyhydramnios, Rhizomel...	OMIM:616271
Thrombocytopenia-Absent Radius Syndrome	Broad thumb, Aplasia/hypoplasia of the humerus, Cervical ribs, Absent radius, Adducted thumb, Axi...	ORPHA:3320
Chromosome 15Q14 Deletion Syndrome	Atrial septal defect, Short philtrum, Recurrent viral upper respiratory tract infections, Everted...	OMIM:616898
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Brachycephaly, Plagiocephaly, Bradycardia, Microcephaly, Diffuse cerebral atrophy, Decreased feta...	ORPHA:2898
Thiamine-Responsive Megaloblastic Anemia Syndrome	Situs inversus totalis, Stroke, Cardiomyopathy, Short stature, Arrhythmia, Atrial septal defect, ...	OMIM:249270
Acropectoral Syndrome	Preaxial hand polydactyly, Finger syndactyly	ORPHA:85203
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Cerebral atrophy, Fetal distress, Homocystinuria, Horizontal ribs, Pulmonary arterial hypertensio...	OMIM:614857
Cardiomyopathy, Dilated, 1Oo	Congestive heart failure, Atrial septal defect, Reduced left ventricular ejection fraction, Prema...	OMIM:620247
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Presyncope, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Premature v...	OMIM:604400
Recurrent Respiratory Papillomatosis	Atelectasis, Abnormal lung morphology, Recurrent pneumonia, Recurrent upper respiratory tract inf...	ORPHA:60032
Gaucher Disease	Delayed puberty, Abnormal pulmonary interstitial morphology, Hydrops fetalis, Hematuria, Abnormal...	ORPHA:355
Doors Syndrome	Aplasia/Hypoplasia of the phalanges of the 2nd toe, Prominent occiput, Broad alveolar ridges, Abn...	ORPHA:79500
Bardet-Biedl Syndrome 13	Polydactyly	OMIM:615990
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Pulmonary edema, Fetal distress, Hypospadias, Anteriorly placed anus, Aortic valve atresia, Cereb...	OMIM:220111
Restrictive Dermopathy	Ureteral duplication, Microcolon, Premature birth, Decreased fetal movement, Intrauterine growth ...	ORPHA:1662
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Delayed puberty, Triphalangeal thumb, Finger syndactyly, Ectopic anus, Abnormality of the dentiti...	ORPHA:2994
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Hypoplasia of the corpus callosum, Short ribs, Postaxial hand polydactyly, Pulmonary arterial hyp...	ORPHA:2519
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Postnatal growth retardation, Protein-losing enteropathy, Polyhydramnios, Abnormally large globe,...	ORPHA:1655
Cardiomyopathy, Dilated, 1G	Congestive heart failure, Reduced left ventricular ejection fraction, Atrial fibrillation, Premat...	OMIM:604145
Cystic Hamartoma Of Lung And Kidney	Recurrent respiratory infections, Hypertension, Multicystic kidney dysplasia, Pulmonary fibrosis	ORPHA:2111
Larsen-Like Syndrome, Lethal Type	Pulmonary insufficiency, Neonatal death, Pulmonary hypoplasia	OMIM:245650
Leigh Syndrome	3-Methylglutaconic aciduria, Generalized aminoaciduria, Complex organic aciduria, Intrauterine gr...	ORPHA:506
Malan Overgrowth Syndrome	Hypoplasia of the corpus callosum, Plagiocephaly, Macrocephaly, Optic disc hypoplasia, Slender lo...	ORPHA:420179
Curry-Jones Syndrome	Microphthalmia, Craniosynostosis, Finger syndactyly, Broad thumb, Foot polydactyly, Intestinal ma...	ORPHA:1553
Acyl-Coa Dehydrogenase 9 Deficiency	Prolonged prothrombin time, Congestive heart failure, Cerebellar hemorrhage, Dicarboxylic aciduri...	ORPHA:99901
Penile Agenesis	Atrial septal defect, Rectal fistula, Hydroureter, Bilateral lung agenesis, Abnormality of the bl...	ORPHA:49
Ring Chromosome 7 Syndrome	Severe intrauterine growth retardation, Microcephaly, Bifid uvula, Heart murmur, Short 5th finger...	ORPHA:1449
Kbg Syndrome	Finger clinodactyly, Single transverse palmar crease, Oligodontia, Short stature, Microcephaly, C...	ORPHA:2332
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Cerebellar hemorrhage, Cardiomyopathy, Dehydration, Abnormal globus pallidus morphology, Stage 5 ...	OMIM:251000
Townes-Brocks Syndrome 1	Clinodactyly of the 5th toe, Tracheoesophageal fistula, Broad thumb, Microcephaly, Urethral valve...	OMIM:107480
Desminopathy	Congestive heart failure, Concentric hypertrophic cardiomyopathy, Supraventricular arrhythmia, At...	ORPHA:98909
Trisomy 10P	Abnormal heart morphology, Multiple renal cysts, Intrauterine growth retardation, Primary microce...	ORPHA:171929
Digeorge Syndrome	Right aortic arch with mirror image branching, Microcephaly, Bifid uvula, Ovarian cyst, Recurrent...	OMIM:188400
Filippi Syndrome	Bilateral single transverse palmar creases, Clinodactyly of the 5th toe, Thin vermilion border, C...	ORPHA:3255
Acro-Renal-Ocular Syndrome	Microphthalmia, Renal hypoplasia/aplasia, Sandal gap, Short humerus, Renal malrotation, Hypoplasi...	ORPHA:959
Reactive Arthritis	Recurrent aphthous stomatitis, Aortic regurgitation, Recurrent urinary tract infections, Pericard...	ORPHA:29207
Zechi-Ceide Syndrome	Thin vermilion border, Short metatarsal, Sandal gap, Short philtrum, Cerebellar vermis hypoplasia...	ORPHA:217017
Joubert Syndrome 37	Hypoplasia of the corpus callosum, Microphthalmia, Cerebellar vermis hypoplasia, High palate, Pos...	OMIM:619185
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Brachycephaly, Lambdoidal craniosynostosis, Spina bifida occulta, Bicoronal synostosis, Optic ner...	OMIM:618736
Joubert Syndrome 21	Hypoplasia of the corpus callosum, Occipital encephalocele, Encephalocele, Anophthalmia, Short ri...	OMIM:615636
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Anencephaly, Non-midline cleft of the upper lip, Ectopic anus, Spina bifida, Cleft palate, Aplasi...	ORPHA:2476
Fetal Minoxidil Syndrome	Ventricular septal defect, Clinodactyly of the 5th finger, Umbilical hernia	ORPHA:1918
Hemimegalencephaly	Hyperintensity of cerebral white matter on MRI, Macrocephaly, Focal cortical dysplasia, Polymicro...	ORPHA:99802
Noonan Syndrome 5	Macrocephaly, Cubitus valgus, Polyhydramnios, Hypertrophic cardiomyopathy, Pulmonic stenosis, Sho...	OMIM:611553
Anterior Segment Dysgenesis 7	Ocular anterior segment dysgenesis, Microphthalmia, Microcornea, Corneal opacity, Sclerocornea, C...	OMIM:269400
Rhombencephalosynapsis	Polydactyly, Aganglionic megacolon, Macrocephaly, Esophageal atresia, Finger syndactyly, Abnormal...	ORPHA:59315
Intellectual Developmental Disorder, Autosomal Recessive 65	Hypoplasia of the corpus callosum, Contracture of the proximal interphalangeal joint of the 4th f...	OMIM:618109
Peroxisome Biogenesis Disorder 8A (Zellweger)	Ventricular septal defect, Glossoptosis, Epiphyseal stippling	OMIM:614876
Ebstein Malformation Of The Tricuspid Valve	Abnormal endocardium morphology, Congestive heart failure, Patent ductus arteriosus, Atrial fibri...	ORPHA:1880
Anterior Segment Dysgenesis 2	Microphthalmia, Aniridia, Coloboma, Microcornea, Corneal opacity, Congenital aphakia, Anterior se...	OMIM:610256
Rhyns Syndrome	Nephronophthisis, Abnormal long bone morphology, Small epiphyses, Hypoplastic ilia, Abnormal acet...	ORPHA:140976
Loeys-Dietz Syndrome 2	Pulmonary artery aneurysm, Arterial tortuosity, Descending thoracic aorta aneurysm, Arachnodactyl...	OMIM:610168
Weiss-Kruszka Syndrome	Hypoplasia of the corpus callosum, Clinodactyly of the 5th finger, Proximal placement of thumb, S...	OMIM:618619
Erdheim-Chester Disease	Abnormal metaphysis morphology, Congestive heart failure, Abnormal pulmonary interstitial morphol...	ORPHA:35687
Fanconi Anemia, Complementation Group A	Microphthalmia, Ectopic kidney, Duplicated collecting system, Abnormal renal morphology, Renal ag...	OMIM:227650
Diffuse Cutaneous Systemic Sclerosis	Congestive heart failure, Hypertensive crisis, Pulmonary arterial hypertension, Carious teeth, Te...	ORPHA:220393
Familial Dyskinesia And Facial Myokymia	Congestive heart failure, Dilated cardiomyopathy	ORPHA:324588
Congenital Factor Vii Deficiency	Prolonged prothrombin time, Gastrointestinal hemorrhage, Post-partum hemorrhage, Gingival bleedin...	ORPHA:327
Orofaciodigital Syndrome Type 5	Abnormal oral frenulum morphology, Microcephaly, Bifid uvula, Accessory oral frenulum, Aganglioni...	ORPHA:2919
Congenital Muscular Dystrophy Due To Lmna Mutation	Decreased fetal movement, Congestive heart failure, Arrhythmia	ORPHA:157973
Baller-Gerold Syndrome	Limited elbow movement, Turricephaly, Carpal bone aplasia, Optic nerve hypoplasia, Oligodactyly, ...	OMIM:218600
Frontoocular Syndrome	Narrow philtrum, Narrow mouth, High palate, Pulmonic stenosis, Trigonocephaly, Coronal craniosyno...	OMIM:605321
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv	Short stature, Cutaneous finger syndactyly, Microcephaly, Syndactyly, Aplasia/Hypoplasia of toe, ...	OMIM:600384
Vater/Vacterl Association	Occipital encephalocele, Ectopic kidney, Tracheoesophageal fistula, Syndactyly, Absent radius, In...	OMIM:192350
Familial Partial Lipodystrophy, Dunnigan Type	Congestive heart failure, Glomerulopathy, Advanced eruption of teeth, Coronary artery atheroscler...	ORPHA:2348
Intellectual Developmental Disorder, Autosomal Dominant 23	Brachycephaly, Broad distal phalanx of finger, Hypospadias, Sandal gap, Dental crowding, Postaxia...	OMIM:615761
Cataract-Intellectual Disability-Hypogonadism Syndrome	Brachycephaly, Abnormality of the hand, Short philtrum, Tooth malposition, High palate, Everted l...	ORPHA:1387
Pearson Syndrome	Postnatal growth retardation, Steatorrhea, Hydrops fetalis, Corneal stromal edema, Cardiomyopathy...	ORPHA:699
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Macrocephaly, Short philtrum, Hyperextensibility of the finger joints, Dental crowding, Ascending...	OMIM:309520
Acrocephalopolydactylous Dysplasia	Enlarged kidney, Extrapulmonary lobar sequestration, Hypoplasia of the small intestine, Postaxial...	OMIM:200995
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Hyperintensity of cerebral white matter on MRI, Thin corpus callosum, Rectovaginal fistula, Polym...	OMIM:619708
De Barsy Syndrome	Progressive microcephaly, Decreased fetal movement, Intrauterine growth retardation, Small, conic...	ORPHA:2962
Fanconi Anemia, Complementation Group E	Microphthalmia, Ectopic kidney, Duplicated collecting system, Renal agenesis, Short stature, Comp...	OMIM:600901
Wolfram Syndrome 1	Optic atrophy, Hydroureter, Diabetes insipidus, Neurogenic bladder, Hypothyroidism, Hydronephrosi...	OMIM:222300
Mitochondrial Complex I Deficiency, Nuclear Type 20	Congestive heart failure, Dicarboxylic aciduria, Stroke, Hypertrophic cardiomyopathy, Cerebral ed...	OMIM:611126
Menkes Disease	Abnormal metaphysis morphology, Abnormal palate morphology, Gastrointestinal hemorrhage, Tarsal s...	ORPHA:565
Microcephaly 20, Primary, Autosomal Recessive	Hypoplasia of the corpus callosum, Microphthalmia, Optic nerve hypoplasia, Bilateral renal agenes...	OMIM:617914
Cerebral Amyloid Angiopathy, Cst3-Related	Stroke, Cerebral hemorrhage, Intracranial hemorrhage	OMIM:105150
Aniridia 2	Optic atrophy, Aniridia, Cataract, Lens subluxation, Iris coloboma	OMIM:617141
Wiedemann-Steiner Syndrome	Microcephaly, Contracture of the distal interphalangeal joint of the fingers, Intrauterine growth...	OMIM:605130
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Abnormal hip bone morphology, Dental crowding, Tibial bowing, Relative macrocephaly, Microdontia,...	ORPHA:251028
2Q23.1 Microdeletion Syndrome	Brachycephaly, Clinodactyly of the 5th finger, Sandal gap, Hypoplasia of penis, Everted lower lip...	ORPHA:228402
Nephronophthisis 20	Nephronophthisis, Vesicoureteral reflux, Renal cyst, Stage 5 chronic kidney disease, Renal insuff...	OMIM:617271
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Optic nerve hypoplasia, Type II lissencephaly, Lateral ventricle dilatation, Primary microcephaly...	ORPHA:300570
Beck-Fahrner Syndrome	Brachycephaly, Long philtrum, Periventricular leukomalacia, Macrocephaly, High palate, Microcepha...	OMIM:618798
Cocaine Intoxication	Prolonged QT interval, Hypertension, Prolonged QRS complex, Diffuse alveolar hemorrhage, Acute ki...	ORPHA:90068
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Pulmonic stenosis, Submucous cleft hard palate, Microcephaly, Bifid uvula, Absent thumb, Atrial s...	OMIM:619239
Congenital Factor Xiii Deficiency	Spontaneous hematomas, Prolonged bleeding after dental extraction, Post-partum hemorrhage, Oral c...	ORPHA:331
Kleefstra Syndrome 1	U-Shaped upper lip vermilion, Brachycephaly, Hypospadias, Abnormal renal morphology, Single trans...	OMIM:610253
Combined Deficiency Of Factor V And Factor Viii	Prolonged prothrombin time, Gastrointestinal hemorrhage, Hematuria, Gingival bleeding, Prolonged ...	ORPHA:35909
Townes-Brocks Syndrome	Delayed puberty, Microphthalmia, Ectopic kidney, Hypoplasia of penis, Absent toe, Broad thumb, Ur...	ORPHA:857
Sudden Cardiac Failure, Infantile	Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Myocardial fibro...	OMIM:617222
Congenital Heart Defects, Multiple Types, 3	Tachycardia, Atrial fibrillation, Right bundle branch block, Persistent left superior vena cava, ...	OMIM:614954
Chromosome 17P13.1 Deletion Syndrome	Turricephaly, Proximal placement of thumb, Everted lower lip vermilion, Microcephaly, Arachnodact...	OMIM:613776
Congenital Myopathy 22A, Classic	Normal pressure hydrocephalus, Polyhydramnios, Breech presentation, Bradycardia, Dental crowding,...	OMIM:620351
Polycystic Kidney Disease 5	Enlarged kidney, Polycystic kidney dysplasia, Hypertension, Hyperechogenic kidneys, Reduced renal...	OMIM:617610
Ciliary Dyskinesia, Primary, 20	Situs inversus totalis, Atelectasis, Dextrocardia, Pulmonary arterial hypertension, Persistent le...	OMIM:615067
Cardiomyopathy, Dilated, 1O	Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co...	OMIM:608569
Somatomammotropinoma	Macrodactyly, Palpebral edema, Cortical diaphyseal thickening of the upper limbs, Deep palmar cre...	ORPHA:314769
Fanconi Anemia, Complementation Group N	Postnatal growth retardation, Hypoplasia of the radius, Microphthalmia, Unilateral renal agenesis...	OMIM:610832
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Postnatal growth retardation, Thin vermilion border, Microphthalmia, Hypoplasia of the corpus cal...	OMIM:241410
Contractures-Developmental Delay-Pierre Robin Syndrome	High, narrow palate, Hypospadias, Abnormal finger morphology, Glossoptosis, Wrist flexion contrac...	ORPHA:436003
Abetal34V Amyloidosis	Stroke, Cerebral hemorrhage, Abnormal cerebral vascular morphology	ORPHA:324703
Autosomal Dominant Polycystic Kidney Disease	Enlarged kidney, Dilatation of the cerebral artery, Hematuria, Decreased glomerular filtration ra...	ORPHA:730
Hemochromatosis, Type 1	Congestive heart failure, Cardiomyopathy, Pleural effusion, Ascites, Arrhythmia, Cardiomegaly, Te...	OMIM:235200
Congenital Heart Defects, Multiple Types, 5	Bicuspid aortic valve, Atrial septal defect, Atrial fibrillation, Aortic valve stenosis, Tetralog...	OMIM:617912
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Polyhydramnios, Short long bone, Postaxial polydactyly, Nephrocalcinosis, Brachydactyly, Recurren...	OMIM:615633
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Thin corpus callosum, Broad 2nd toe, Everted lower lip vermilion, Wide mouth, Umbilical hernia, C...	OMIM:280000
Craniofacioskeletal Syndrome	Clinodactyly of the 5th finger, Hypospadias, Short philtrum, Interrupted aortic arch, Narrow ilia...	OMIM:300712
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Hyperintensity of cerebral white matter on MRI, Microphthalmia, Flexion contracture of toe, Finge...	ORPHA:48431
Orofaciodigital Syndrome Ii	Syndactyly, Metaphyseal irregularity, Accessory oral frenulum, Tongue nodules, Hydrocephalus, Pos...	OMIM:252100
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Tricuspid regurgitation, Hypertrophic cardiomyopathy, Pulmonary arterial...	OMIM:619051
Microphthalmia, Syndromic 1	Microphthalmia, Renal hypoplasia/aplasia, Radial deviation of finger, Dental crowding, Prominent ...	OMIM:309800
Congenital Myopathy 11	Polyhydramnios, Breech presentation, Patent ductus arteriosus, Patent foramen ovale, Decreased fe...	OMIM:619967
Idiopathic Chronic Eosinophilic Pneumonia	Abnormal pulmonary thoracic imaging finding, Hypersensitivity pneumonitis, Atelectasis, Pleural e...	ORPHA:2902
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Brachycephaly, Macrocephaly, Hydrocephalus, Short stature, Rieger anomaly, Agenesis of corpus cal...	OMIM:109120
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Microphthalmia, Retinal detachment, Corneal scarring, Chorioretinal coloboma, Cataract, Buphthalm...	OMIM:212550
Seckel Syndrome 10	Congestive heart failure, Slender long bone, Hypertension, Ventricular hypertrophy, Microcephaly,...	OMIM:617253
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Recurrent lower respiratory tract infections, Short stature, Growth delay, Bicuspid aortic valve,...	OMIM:617744
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Pericardial lymphangiectasia, Intestinal lymphangiectasia, Lymphedema, Narrow mouth, Camptodactyl...	OMIM:616006
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hydrops fetalis, Short middle phalanx of the 4th finger, Limited pronation/supination of forearm,...	OMIM:616738
Fanconi Anemia, Complementation Group C	Microphthalmia, Ectopic kidney, Duplicated collecting system, Prolonged G2 phase of cell cycle, I...	OMIM:227645
Joubert Syndrome 20	Postaxial polydactyly, Renal cyst, 4-5 toe syndactyly	OMIM:614970
Spermatogenic Failure, X-Linked, 2	Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia	OMIM:309120
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Brachycephaly, 2-3 toe syndactyly, High palate, Long fingers, Respiratory tract infection, Diffus...	OMIM:218000
22Q11.2 Duplication Syndrome	Transposition of the great arteries, Interrupted aortic arch, Growth delay, Microcephaly, Hydrone...	ORPHA:1727
Developmental And Epileptic Encephalopathy 66	Widely spaced teeth, Clinodactyly of the 5th finger, Dextrocardia, Cerebellar vermis hypoplasia, ...	OMIM:618067
Non-Involuting Congenital Hemangioma	Congestive heart failure, Peripheral arteriovenous fistula, Telangiectasia of the skin, Prominent...	ORPHA:141179
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Intestinal pseudo-obstruction, Finger syndactyly, Cerebral calcification, Fetal megacystis, Micro...	ORPHA:73246
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Short distal phalanx of toe, Narrow mouth, Microdontia, Bilateral triphalangeal thumbs, Microceph...	OMIM:619356
Combined Oxidative Phosphorylation Deficiency 42	Cardiomyopathy, Premature birth, Nonimmune hydrops fetalis, Neonatal death, Intrauterine growth r...	OMIM:618839
Lowry-Maclean Syndrome	High, narrow palate, Atrioventricular canal defect, Hypospadias, Hydrocephalus, Single transverse...	ORPHA:2409
Buratti-Harel Syndrome	Clinodactyly of the 5th finger, Hypospadias, Dilation of Virchow-Robin spaces, High palate, Broad...	OMIM:619314
White-Sutton Syndrome	Brachycephaly, Thin vermilion border, Hypoplasia of the corpus callosum, Thin corpus callosum, Ce...	OMIM:616364
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Dental crowding, Relative macrocephaly, Severe intrauterine growth retardation, Microdontia, Abno...	ORPHA:96182
Wieacker-Wolff Syndrome, Female-Restricted	Rocker bottom foot, U-Shaped upper lip vermilion, Brachycephaly, Urinary incontinence, Polyhydram...	OMIM:301041
Schuurs-Hoeijmakers Syndrome	Single umbilical artery, Cavum septum pellucidum, Patent foramen ovale, Downturned corners of mou...	OMIM:615009
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Brachycephaly, Bicuspid aortic valve, Carpal osteolysis, Osteolysis involving bones of the lower ...	ORPHA:371428
Fallot Complex With Severe Mental And Growth Retardation	Pulmonic stenosis, Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot	OMIM:601127
Lymphatic Malformation 12	Polyhydramnios, Pleural thickening, Lymphedema, Fetal pericardial effusion, Fetal pleural effusio...	OMIM:620014
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Thin corpus callosum, Bradycardia, Hypertrophic cardiomyopathy, Ventricular septal defect, Elevat...	OMIM:616277
Craniosynostosis 6	Brachycephaly, Plagiocephaly, Turricephaly, Spina bifida occulta, Bicoronal synostosis, Parietal ...	OMIM:616602
Meacham Syndrome	Abnormal lung lobation, Situs inversus totalis, Transposition of the great arteries, Hypoplasia o...	ORPHA:3097
Ring Chromosome 10 Syndrome	Thin vermilion border, Microphthalmia, Renal hypoplasia/aplasia, Aganglionic megacolon, Sandal ga...	ORPHA:1438
Respiratory Distress Syndrome In Premature Infants	Edema, Pulmonary edema, Premature birth, Atelectasis	OMIM:267450
Werner Syndrome	Rocker bottom foot, Congestive heart failure, Neoplasm of the oral cavity, Renal neoplasm, Hypert...	ORPHA:902
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment	Clinodactyly of the 5th finger, High palate, Increased nuchal translucency, Short stature, Fetal ...	OMIM:618480
Warburg Micro Syndrome 3	Narrow palate, Postnatal growth retardation, Microphthalmia, Brachycephaly, Clinodactyly of the 5...	OMIM:614222
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type	Brachycephaly, Macrocephaly, Frontal cortical atrophy, Short stature, Ventriculomegaly	OMIM:300699
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Unilateral renal agenesis, Azoospermia, Decreased circulating follicle stimulating hormone concen...	OMIM:308700
Idiopathic/Heritable Pulmonary Arterial Hypertension	Abnormal cardiovascular system physiology, Elevated jugular venous pressure, Pulmonary arterial h...	ORPHA:422
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia, Aplasia of the distal phalanx of the 5th toe, Everted lower lip vermilion, Microc...	OMIM:608670
Sweeney-Cox Syndrome	Brachycephaly, Flat occiput, Polyhydramnios, Short philtrum, Short clavicles, Patent foramen oval...	OMIM:617746
19Q13.11 Microdeletion Syndrome	Thin vermilion border, Clinodactyly of the 5th finger, Hypospadias, Solitary median maxillary cen...	ORPHA:217346
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Polydactyly, Postnatal growth retardation, Clinodactyly of the 5th finger, Dental crowding, Relat...	ORPHA:231140
Intellectual Developmental Disorder, X-Linked 112	Ectopic kidney, Hypospadias, Horseshoe kidney, Madelung deformity, Enuresis nocturna, Vesicourete...	OMIM:301111
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Delayed puberty, Dental crowding, Relative macrocephaly, Wide mouth, Cardiomegaly, Short philtrum...	OMIM:300967
Combined Oxidative Phosphorylation Deficiency 40	Hypertrophic cardiomyopathy, Premature birth, Nonimmune hydrops fetalis, Neonatal death, Intraute...	OMIM:618835
Toriello-Carey Syndrome	Cardiomyopathy, Pulmonic stenosis, Microcephaly, Intrauterine growth retardation, Ventriculomegal...	ORPHA:3338
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Brachycephaly, Hypoplasia of the corpus callosum, Dysplastic pulmonary valve, Microcephaly, Cleft...	OMIM:300958
Polydactyly, Postaxial, Type A5	Metacarpal synostosis, Cutaneous finger syndactyly, Postaxial hand polydactyly, Syndactyly	OMIM:263450
Lymphatic Malformation 6	Facial edema, Intestinal lymphangiectasia, Polyhydramnios, Chylothorax, Genital edema, Lymphedema...	OMIM:616843
Fetal And Neonatal Alloimmune Thrombocytopenia	Spontaneous hematomas, Gastrointestinal hemorrhage, Cephalohematoma, Hematuria, Melena, Purpura, ...	ORPHA:853
Chromosome 5P13 Duplication Syndrome	Brachycephaly, Turricephaly, Macrocephaly, Short philtrum, Single transverse palmar crease, Vesic...	OMIM:613174
Gracile Bone Dysplasia	Microphthalmia, Aniridia, Slender long bone, Flared metaphysis, Hydrocephalus, Thin ribs, Ascites...	OMIM:602361
Prune1-Related Neurological Syndrome	Cerebral atrophy, Plagiocephaly, Thin corpus callosum, Hypertrophic cardiomyopathy, Bilateral tal...	ORPHA:544469
Frank-Ter Haar Syndrome	Broad alveolar ridges, Short long bone, Wide mouth, Mitral valve prolapse, Patent foramen ovale, ...	OMIM:249420
Rapidly Involuting Congenital Hemangioma	Congestive heart failure, Peripheral arteriovenous fistula, Telangiectasia of the skin, Prominent...	ORPHA:141184
Eisenmenger Syndrome	Aortopulmonary window, Clubbing, Ascites, Left-to-right shunt, Abnormal heart morphology, Heart m...	ORPHA:97214
Transketolase Deficiency	Increased level of ribose in urine, Patent foramen ovale, Renal cyst, Proportionate short stature...	ORPHA:488618
Luo-Schoch-Yamamoto Syndrome	Widely-spaced maxillary central incisors, Short philtrum, Narrow mouth, Tricuspid regurgitation, ...	OMIM:619460
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Delayed puberty, Cardiomyopathy, Long philtrum, Overlapping toe, Ventriculomegaly, Aplasia/Hypopl...	ORPHA:480880
Hyperparathyroidism, Transient Neonatal	Brachycephaly, Enlarged kidney, Polyhydramnios, Unilateral renal agenesis, Stroke, Short long bon...	OMIM:618188
Isolated Osteopoikilosis	Abnormality of the kidney, Sclerotic foci within carpal bones, Abnormal femur morphology, Tarsal ...	ORPHA:166119
Hemophilia B	Cephalohematoma, Hematuria, Spontaneous, recurrent epistaxis, Delayed onset bleeding, Joint hemor...	ORPHA:98879
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Bilateral single transverse palmar creases, Partial anomalous pulmonary venous return, Solitary m...	OMIM:619657
Cardiomyopathy, Dilated, 1Y	Congestive heart failure, Increased left ventricular end-diastolic volume, Atrial fibrillation, E...	OMIM:611878
Lymphatic Malformation 7	Pulmonary edema, Facial edema, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuch...	OMIM:617300
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Cerebral atrophy, Ventricular septal defect, Pulmonary artery atresia, Left superior vena cava dr...	OMIM:613759
Oculoauriculofrontonasal Syndrome	Macrocephaly, Encephalocele, Narrow mouth, Microcephaly, Cleft palate, Broad philtrum, Pericallos...	ORPHA:398156
Idiopathic Hypereosinophilic Syndrome	Congestive heart failure, Myocardial eosinophilic infiltration, Supraventricular arrhythmia, Club...	ORPHA:3260
Pontocerebellar Hypoplasia, Type 3	Brachycephaly, Cerebral atrophy, High, narrow palate, Hypoplasia of the corpus callosum, Progress...	OMIM:608027
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Congenital Alpha2-Antiplasmin Deficiency	Abnormal bleeding, Hematuria, Gingival bleeding, Abnormal umbilical stump bleeding, Joint hemorrh...	ORPHA:79
Alpha-Thalassemia	Congestive heart failure, Hydrops fetalis, Pleural effusion, Generalized edema, Pericardial effusion	ORPHA:846
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	Brachycephaly, Hypoplasia of the corpus callosum, Clinodactyly of the 5th finger, Microcephaly, C...	ORPHA:352530
Cerebellar-Facial-Dental Syndrome	Inferior cerebellar vermis hypoplasia, Microcephaly, Severe short stature, Mitral valve prolapse,...	ORPHA:444072
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Microcephaly, Recurrent sinusitis, Decreased fetal movement, Craniosynostosis, Overlapping toe, P...	OMIM:213980
Hamel Cerebro-Palato-Cardiac Syndrome	Narrow mouth, Short stature, Arachnodactyly, Microcephaly, Cleft palate, Atrial septal defect	ORPHA:93946
Ogden Syndrome	Postnatal growth retardation, Cerebral atrophy, Everted upper lip vermilion, High, narrow palate,...	ORPHA:276432
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Telangiectasia of extensor surfaces, Palpebral edema, Abnormal renal glomerulus morphology, Lymph...	OMIM:137940
Oculopalatocerebral Syndrome	Microphthalmia, Remnants of the hyaloid vascular system, Leukocoria	OMIM:257910
Lenz-Majewski Hyperostotic Dwarfism	Relative macrocephaly, Microcephaly, Syndactyly, Intrauterine growth retardation, Ventriculomegal...	OMIM:151050
Familial Hyperaldosteronism Type Iii	Prolonged QT interval, Hypercalciuria, Hypertension, Epistaxis, Intracranial hemorrhage, Left ven...	ORPHA:251274
Immune-Mediated Necrotizing Myopathy	Myocarditis, Congestive heart failure, Abnormal pulmonary interstitial morphology, Scapular wingi...	ORPHA:206569
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Rocker bottom foot, Delayed puberty, Turricephaly, Proximal tibial and fibular fusion, Hypertensi...	ORPHA:95699
Hemophilia A	Spontaneous hematomas, Gastrointestinal hemorrhage, Joint hemorrhage, Joint swelling, Intracrania...	ORPHA:98878
Brain-Lung-Thyroid Syndrome	Atrial septal defect, Abnormal pulmonary interstitial morphology, Hypospadias, Recurrent respirat...	ORPHA:209905
Hemorrhagic Fever-Renal Syndrome	Hematemesis, Decreased glomerular filtration rate, Hypertension, Epistaxis, Oliguria, Glomerulone...	ORPHA:340
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Delayed puberty, Dental crowding, Relative macrocephaly, Wide mouth, Left ventricular hypertrophy...	ORPHA:466791
X-Linked Intellectual Disability, Nascimento Type	Hypointensity of cerebral white matter on MRI, Wide mouth, Overlapping toe, Oligohydramnios, Hypo...	ORPHA:163956
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Aortic valve stenosis, Aortic regurgitation, Aortic valve calcification	OMIM:114065
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Polydactyly, Hypospadias, Hypoplastic ischia, Microcephaly, Intrauterine growth retardation	OMIM:616910
Hallermann-Streiff Syndrome	Brachycephaly, Congestive heart failure, Microphthalmia, Supernumerary tooth, Clinodactyly of the...	ORPHA:2108
Aase-Smith Syndrome I	Hydrocephalus, Dandy-Walker malformation, Slender finger, Cleft palate, Open mouth, Ventricular s...	OMIM:147800
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Brachycephaly, Plagiocephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Global brain a...	OMIM:616801
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Congestive heart failure, Dilated cardiomyopathy	OMIM:606703
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Low-output congestive heart failure, Hypertrophic cardiomyopathy	ORPHA:91130
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Brachycephaly, Abnormal palate morphology, Turricephaly, Abnormal metacarpal morphology, Hydrocep...	ORPHA:93262
Monosomy 13Q34	Prolonged prothrombin time, Postaxial hand polydactyly, Pulmonic stenosis, Common atrium, Growth ...	ORPHA:96168
Renal Dysplasia, Cystic, Susceptibility To	Vesicoureteral reflux, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Cystic renal...	OMIM:601331
Familial Bicuspid Aortic Valve	Aortic regurgitation, Abnormal left ventricular outflow tract morphology, Aortic valve calcificat...	ORPHA:402075
Cooper-Jabs Syndrome	Brachycephaly, Proximal placement of thumb, Abnormal hip bone morphology, Abnormal rib morphology...	ORPHA:1488
Infundibulopelvic Dysgenesis	Microscopic hematuria, Multicystic kidney dysplasia	OMIM:600989
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Unilateral microphthalmos, Anal atresia, Short stature, Microcephaly, B...	OMIM:619318
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia, Widely spaced teeth, Cubitus valgus, Thin corpus callosum, Microdontia, Camptodac...	OMIM:619694
Papillorenal Syndrome	Microphthalmia, Hematuria, Horseshoe kidney, Hypertension, Mild proteinuria, Nephrolithiasis, Ves...	OMIM:120330
Chromosome 14Q11-Q22 Deletion Syndrome	Hypoplasia of the corpus callosum, Plagiocephaly, Hip subluxation, Thin corpus callosum, Renal tu...	OMIM:613457
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Hypoplasia of the corpus callosum, Absent cupid's bow, Cerebellar hypoplasia, Ventricular hypertr...	ORPHA:284169
Cerebral Cavernous Malformations 2	Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia	OMIM:603284
Waldenström Macroglobulinemia	Congestive heart failure, Gastrointestinal hemorrhage, Purpura, Vasculitis, Stroke, Gingival blee...	ORPHA:33226
Chromosome 2Q37 Deletion Syndrome	Brachycephaly, Type E brachydactyly, Short metacarpal, Short fourth metatarsal, Short stature, Sh...	OMIM:600430
Nephronophthisis 15	Polydactyly, Cerebellar vermis hypoplasia, Nephronophthisis	OMIM:614845
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Congestive heart failure, Clubbing of fingers, Tooth agenesis, Cardiomyocyte hypertrophy, Palmopl...	OMIM:605676
Lymphatic Malformation 8	Stillbirth, Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion, Nonimmune ...	OMIM:618773
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Palpebral edema, Hydrops fetalis, Predominantly lower limb lymphedema, Pleural effusion, Ascites,...	ORPHA:69735
Apert Syndrome	Narrow palate, Esophageal atresia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Delayed er...	ORPHA:87
X Small Rings	Long philtrum, Clinodactyly of the 5th finger, Upper limb undergrowth, Aortic root aneurysm, 2-3 ...	ORPHA:96201
Homozygous Familial Hypercholesterolemia	Calcification of the aorta, Hypertension, Precocious atherosclerosis, Peripheral arterial stenosi...	ORPHA:391665
Neurooculorenal Syndrome	Thin corpus callosum, Intestinal malrotation, Mitral valve prolapse, Broad philtrum, Ventriculome...	OMIM:620305
Bardet-Biedl Syndrome 7	Polydactyly, 2-3 toe syndactyly, Narrow mouth, Postaxial polydactyly, Clinodactyly	OMIM:615984
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Hypoplasia of the corpus callosum, Periventricular leukomalacia, Unilateral renal agenesis, Coron...	OMIM:620024
Heterotaxy, Visceral, 5, Autosomal	Ureteral duplication, Ureteral stenosis, Intestinal malrotation, Intrauterine growth retardation,...	OMIM:270100
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Lens subluxation, Lattice retinal degeneration, Cataract	OMIM:614292
Feingold Syndrome Type 1	Microcephaly, Abnormal heart morphology, Abnormality of the kidney, Tricuspid atresia, Multiple m...	ORPHA:391641
Kallmann Syndrome With Spastic Paraplegia	Unilateral renal agenesis, Decreased circulating follicle stimulating hormone concentration, Decr...	OMIM:308750
Combined Oxidative Phosphorylation Deficiency 25	Cerebral atrophy, Aspiration pneumonia, Short stature, Hypoplasia of the pons, Syndactyly, Smooth...	OMIM:616430
Microcephaly 30, Primary, Autosomal Recessive	Fetal distress, Clinodactyly of the 5th finger, Cleft soft palate, Increased nuchal translucency,...	OMIM:620183
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Microphthalmia, Urinary incontinence, Dental crowding, Pulmonic stenosis, Aortic valve stenosis, ...	ORPHA:261537
Limb Body Wall Complex	Aplasia/hypoplasia involving bones of the upper limbs, Anencephaly, Abnormal intestine morphology...	ORPHA:2369
Familial Cutaneous Collagenoma	Angina pectoris, Congestive heart failure, Atrial septal defect, Cardiomyopathy	ORPHA:53296
Holoprosencephaly 7	Microphthalmia, Solitary median maxillary central incisor, Bilateral cleft palate, Cranial asymme...	OMIM:610828
Naxos Disease	Congestive heart failure, Right ventricular cardiomyopathy, Palmoplantar keratoderma, Cardiomegal...	OMIM:601214
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Polydactyly, 3-Methylglutaconic aciduria, Abnormal renal collecting system morphology, Orofacial ...	ORPHA:17
Joubert Syndrome With Hepatic Defect	Orofacial cleft, Occipital encephalocele, Macrocephaly, Multicystic kidney dysplasia, Renal insuf...	ORPHA:1454
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Dysplastic corpus callosum, Thick lower lip vermilion, Hypospadias, Focal polymicrogyria, Dysplas...	OMIM:619103
Congenital Disorder Of Glycosylation, Type Ig	Hypoplasia of the radius, Polyhydramnios, Rhizomelia, Hypospadias, Sandal gap, Short philtrum, Pr...	OMIM:607143
Nephronophthisis 14	Situs inversus totalis, Polycystic kidney dysplasia, Cerebellar vermis hypoplasia, Nephronophthisis	OMIM:614844
Floating-Harbor Syndrome	Mesocardia, Dislocated radial head, Short metacarpal, Microdontia, Nephrocalcinosis, Wide mouth, ...	ORPHA:2044
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Hypoplasia of the corpus callosum, Widely spaced teeth, Short metatarsal, Sandal gap, Cone-shaped...	OMIM:617102
Intellectual Developmental Disorder, Autosomal Dominant 53	Brachycephaly, Posterior plagiocephaly, Genu valgum, Macrocephaly, Thick corpus callosum, Intesti...	OMIM:617798
Idiopathic Pulmonary Arterial Hypertension	Elevated pulmonary artery pressure, Congestive heart failure, Abnormal jugular vein morphology, P...	ORPHA:275766
Microphthalmia, Lenz Type	Orofacial cleft, Microphthalmia, Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Clinodactyly...	ORPHA:568
Combined Oxidative Phosphorylation Deficiency 59	Congestive heart failure, Dicarboxylic aciduria, Abnormal basal ganglia MRI signal intensity, Hyp...	OMIM:620646
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation	Cerebral atrophy, Brachycephaly, Hypoplasia of the corpus callosum, Dental crowding, Short statur...	ORPHA:320385
Intellectual Developmental Disorder, Autosomal Dominant 66	Brachycephaly, Plagiocephaly, Transposition of the great arteries, Clinodactyly of the 5th finger...	OMIM:619910
1P31P32 Microdeletion Syndrome	Moyamoya phenomenon, Macrocephaly, Aplasia/Hypoplasia of the corpus callosum, Craniosynostosis, F...	ORPHA:401986
Okamoto Syndrome	Urinary incontinence, Aortic valve stenosis, Abnormal mitral valve morphology, Intestinal malrota...	ORPHA:2729
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Narrow palate, Abnormal fibula morphology, Abnormal palate morphology, Abnormal femur morphology,...	ORPHA:2063
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Postaxial polydactyly, Occipital encephalocele, Abnormality of the urinary system, Agenesis of ce...	OMIM:213010
Microphthalmia, Syndromic 8	Orofacial cleft, Microphthalmia, Split foot, Cleft upper lip, Microcephaly, Cleft palate, Widely-...	OMIM:601349
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Plagiocephaly, Short philtrum, Polymicrogyria, Tooth agenesis, Microcephaly, Downturned corners o...	OMIM:618731
Desbuquois Syndrome	Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal femoral neck/head morpho...	ORPHA:1425
Chime Syndrome	Aplasia/Hypoplasia of the phalanges of the toes, Microdontia, Aplasia/Hypoplasia of the phalanges...	ORPHA:3474
D-Bifunctional Protein Deficiency	Hypoplasia of the corpus callosum, Cerebral dysmyelination, Macrocephaly, Hammertoe, Polyhydramni...	OMIM:261515
Congenital Generalized Lipodystrophy	Congestive heart failure, Hypertrophic cardiomyopathy, Large hands, Polycystic ovaries, Macroglos...	ORPHA:528
Branchio-Oculo-Facial Syndrome	Orofacial cleft, Non-midline cleft of the upper lip, High palate, Everted lower lip vermilion, Mi...	ORPHA:1297
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Hypoplasia of the corpus callosum, Arteria lusoria, Single umbilical artery, Tibial torsion, Pelv...	OMIM:618653
Hyperphosphatasia-Intellectual Disability Syndrome	Shortening of all distal phalanges of the fingers, Bifid uvula, Broad philtrum, Oligohydramnios, ...	ORPHA:247262
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Macrocephaly, Breech presentation, Polyhydramnios, Flared metaphysis...	ORPHA:2347
Non-Syndromic Bicoronal Craniosynostosis	Metacarpal synostosis, Brachycephaly, Brachydactyly	ORPHA:35099
Stickler Syndrome Type 2	Retinal detachment, Corneal opacity, Cataract	ORPHA:90654
Ulnar Agenesis And Endocardial Fibroelastosis	Aplasia of the ulna, Hydrops fetalis, Finger aplasia, Neonatal death, Endocardial fibroelastosis	OMIM:276822
Tetraamelia Syndrome 1	Single umbilical artery, Microphthalmia, Hydrocephalus, Anal atresia, Hypoplastic pelvis, Renal a...	OMIM:273395
Microscopic Polyangiitis	Congestive heart failure, Gastrointestinal hemorrhage, Glomerulopathy, Hematuria, Vasculitis, Per...	ORPHA:727
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Enlarged kidney, Abnormal right ventricle morphology, Tibial bowing, Mitral valve prolapse, Renal...	ORPHA:500095
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Abnormal atrioventricular conduction, Congestive heart failure, Advanced eruption of teeth, Osteo...	ORPHA:280365
Aniridia-Intellectual Disability Syndrome	Cataract, Optic nerve hypoplasia, Ectopia lentis, Aniridia	ORPHA:1068
Schizophrenia 1	Flat occiput, Ectopic kidney, Renal agenesis, Short stature, Frontal bossing, Syndactyly, Partial...	OMIM:181510
Familial Progressive Cardiac Conduction Defect	Congestive heart failure, Heart block, Bundle branch block, Arrhythmia, Syncope	ORPHA:871
Cranioectodermal Dysplasia	Abnormal metaphysis morphology, Rhizomelia, Clinodactyly of the 5th finger, Abnormal diaphysis mo...	ORPHA:1515
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Microphthalmia, Urinary incontinence, Dental crowding, Hyphema, Arachnodactyly, Aortic valve sten...	ORPHA:261552
Hypertelorism, Microtia, Facial Clefting Syndrome	Tessier cleft, Ectopic kidney, 2-3 toe syndactyly, Narrow mouth, Microcephaly, Cleft upper lip, A...	OMIM:239800
Acrodysostosis 1 With Or Without Hormone Resistance	Disproportionate short-limb short stature, Cone-shaped epiphyses of the phalanges of the hand, Di...	OMIM:101800
Acrofacial Dysostosis, Catania Type	Bilateral single transverse palmar creases, Tessier cleft, Abnormal palate morphology, Clinodacty...	ORPHA:1786
Retinitis Pigmentosa 84	Cataract, Macular coloboma, Bone spicule pigmentation of the retina, Macular atrophy	OMIM:618220
Diamond-Blackfan Anemia 16	Pulmonic stenosis, Atrial septal defect	OMIM:617408
21Q22.11Q22.12 Microdeletion Syndrome	Postnatal growth retardation, Thick lower lip vermilion, Acromesomelia, Cone-shaped epiphyses of ...	ORPHA:261323
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Hypoplasia of the corpus callosum, Decreased fetal movement, Microphthalmia, Macrocephaly, Enceph...	OMIM:614643
Recombinant 8 Syndrome	Bilateral single transverse palmar creases, Abnormality of the kidney, Clinodactyly of the 5th fi...	ORPHA:96167
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	Microcephaly, 2-4 toe syndactyly, Syndactyly	OMIM:241000
Cortical Dysplasia, Complex, With Other Brain Malformations 13	Hypoplasia of the corpus callosum, Plagiocephaly, Cerebellar vermis hypoplasia, Frontal polymicro...	OMIM:614563
Lateral Meningocele Syndrome	Long philtrum, Aortic aneurysm, Meningocele, Dental crowding, Neurogenic bladder, Hydrocephalus, ...	OMIM:130720
Refsum Disease	Microphthalmia, Heart block, Hammertoe, Cardiomyopathy, Short metacarpal, Abnormal epiphysis morp...	ORPHA:773
Summitt Syndrome	Short 4th metacarpal, Plagiocephaly, Genu valgum, Clinodactyly of the 5th finger, Macrocephaly, F...	ORPHA:3210
Acrofrontofacionasal Dysostosis 2	Brachycephaly, Hypospadias, High palate, Thickened nuchal skin fold, Broad thumb, Short stature, ...	OMIM:239710
Oculodentodigital Dysplasia	Broad alveolar ridges, Cerebral calcification, Tooth agenesis, Umbilical hernia, Clinodactyly, Ap...	ORPHA:2710
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Brachycephaly, Plagiocephaly, Hypoplasia of the corpus callosum, Periventricular leukomalacia, De...	ORPHA:500055
Cardiomyopathy, Dilated, 1D	Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco...	OMIM:601494
Combined Oxidative Phosphorylation Defect Type 23	Congestive heart failure, Wolff-Parkinson-White syndrome, Severely reduced left ventricular eject...	ORPHA:444013
Mandibulofacial Dysostosis, Guion-Almeida Type	Proximal placement of thumb, Esophageal atresia, Progressive microcephaly, Slender finger, Short ...	OMIM:610536
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Microphthalmia, Anophthalmia, Chylothorax, Lymphedema, Pleural effusion, Microcephaly, Severe sho...	ORPHA:2526
Carpenter Syndrome 2	Broad thumb, Trigonocephaly, Umbilical hernia, Long philtrum, Craniosynostosis, Narrow palate, Tr...	OMIM:614976
Lymphatic Malformation 1	Hyperkeratosis over edematous areas, Hypoplasia of lymphatic vessels, Predominantly lower limb ly...	OMIM:153100
Cardiomyopathy, Familial Hypertrophic, 6	Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril...	OMIM:600858
Cardiomyopathy, Dilated, 2F	Congestive heart failure, Increased left ventricular end-diastolic volume, Ventricular fibrillati...	OMIM:619747
Rubinstein-Taybi Syndrome 2	Narrow palate, Short 5th toe, Short first metatarsal, Increased overbite, Prominent fingertip pad...	OMIM:613684
Cutis Laxa, Autosomal Recessive, Type Ib	Pulmonary artery aneurysm, Arterial tortuosity, Bradycardia, Microcephaly, Arachnodactyly, Intuss...	OMIM:614437
Deafness-Lymphedema-Leukemia Syndrome	Lymphedema, Bruising susceptibility, Intracranial hemorrhage, Prolonged bleeding time, Recurrent ...	ORPHA:3226
Abeta Amyloidosis, Iowa Type	Stroke, Cerebral hemorrhage, Abnormal cerebral vascular morphology	ORPHA:324708
Harrod Syndrome	Abnormal shoulder morphology, Hypospadias, High palate, Abnormal pelvic girdle bone morphology, N...	ORPHA:2115
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Congestive heart failure, Atrial flutter, Heart block, Atrial fibrillation, Supraventricular tach...	ORPHA:300751
Carey-Fineman-Ziter Syndrome 1	Decreased fetal movement, Plagiocephaly, Pectoralis hypoplasia, Macrocephaly, Glossoptosis, High ...	OMIM:254940
Syngap1-Related Developmental And Epileptic Encephalopathy	Thin vermilion border, Hypospadias, High palate, Narrow mouth, Postaxial polydactyly, Microcephal...	ORPHA:544254
Bardet-Biedl Syndrome 3	Postaxial polydactyly, Renal hypoplasia, Brachydactyly, Tricuspid regurgitation	OMIM:600151
Isotretinoin-Like Syndrome	Postnatal growth retardation, Abnormal aortic arch morphology, Abnormal cardiac ventricle morphol...	ORPHA:2306
Acromelic Frontonasal Dysostosis	Dilation of Virchow-Robin spaces, Optic nerve hypoplasia, Parietal foramina, Calcification of fal...	OMIM:603671
Wahab Syndrome	Short metacarpal, Camptodactyly, Short foot, Short palm, Syndactyly, Short thumb, Adducted thumb,...	OMIM:615170
Severe Generalized Junctional Epidermolysis Bullosa	Renal tubular epithelial necrosis, Bradycardia, Ureterocele, Edema, Abnormality of the bladder, A...	ORPHA:79404
Mowat-Wilson Syndrome	Microphthalmia, Urinary incontinence, Focal white matter lesions, Dental crowding, Everted lower ...	ORPHA:2152
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies	Brachycephaly, Plagiocephaly, Hypoplasia of the corpus callosum, Clinodactyly of the 5th finger, ...	OMIM:618672
Maternal Phenylketonuria	Hypoplasia of the corpus callosum, Long philtrum, Esophageal atresia, Abnormal renal morphology, ...	ORPHA:2209
Al-Raqad Syndrome	Sandal gap, Narrow mouth, Microcephaly, Brachydactyly, Atrial septal defect, Thin upper lip vermi...	OMIM:616459
X-Linked Dominant Chondrodysplasia Punctata	Microphthalmia, Epiphyseal stippling, Severe postnatal growth retardation, Anterior rib punctate ...	ORPHA:35173
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Short stature, Microphthalmia	OMIM:251270
Galloway-Mowat Syndrome 4	Cerebral atrophy, Plagiocephaly, Polymicrogyria, Focal segmental glomerulosclerosis, Congenital n...	OMIM:617730
Steinfeld Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Microphthalmia, Unilateral renal dysplasia, Apl...	OMIM:184705
Heterotaxy, Visceral, 4, Autosomal	Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia, Right aortic ar...	OMIM:613751
Geleophysic Dysplasia 1	Short long bone, Wrist flexion contracture, Aortic valve stenosis, Wide mouth, Long philtrum, Con...	OMIM:231050
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Vascular dilatation, Focal segmental glomerulosclerosis, Renal cyst, Short stature, Chronic kidne...	OMIM:617056
Otopalatodigital Syndrome, Type Ii	Rocker bottom foot, Femoral bowing, Tibial bowing, Short metacarpal, Short ribs, Broad thumb, Umb...	OMIM:304120
Cutis Laxa, Autosomal Recessive, Type Iie	Copper beaten skull, Thick lower lip vermilion, Clinodactyly of the 5th finger, Deep palmar creas...	OMIM:619451
Arboleda-Tham Syndrome	Sandal gap, Pulmonic stenosis, Intestinal malrotation, Microcephaly, Upper limb amyotrophy, Wide ...	OMIM:616268
Opitz Gbbb Syndrome	Rectourethral fistula, Solitary median maxillary central incisor, Hypospadias, Cerebellar vermis ...	OMIM:300000
Holoprosencephaly 14	Aqueductal stenosis, Macrocephaly, Proboscis, Aortic valve atresia, Hydrocephalus, Alobar holopro...	OMIM:619895
Atrial Fibrillation, Familial, 10	Paroxysmal atrial fibrillation, Left atrial enlargement, Atrial flutter, Bradycardia, Stroke, Per...	OMIM:614022
Abeta Amyloidosis, Italian Type	Stroke, Cerebral hemorrhage	ORPHA:324713
Sporadic Pheochromocytoma/Secreting Paraganglioma	Congestive heart failure, Hematuria, Glomerular sclerosis, Hypertension associated with pheochrom...	ORPHA:276621
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Solitary median maxillary central incisor, Dental crowding, Microcephaly, Contracture of the prox...	OMIM:301044
Rabson-Mendenhall Syndrome	Polydactyly, Advanced eruption of teeth, Long penis, Severe postnatal growth retardation, Dental ...	ORPHA:769
Cranioectodermal Dysplasia 3	Nephronophthisis, Rhizomelia, Widely spaced teeth, Sandal gap, Macrocephaly, 2-3 toe syndactyly, ...	OMIM:614099
Muenke Syndrome	Brachycephaly, Plagiocephaly, High, narrow palate, Tarsal synostosis, Macrocephaly, Hydrocephalus...	ORPHA:53271
Pparg-Related Familial Partial Lipodystrophy	Congestive heart failure, Coronary artery atherosclerosis, Hypertension, Prominent veins on trunk...	ORPHA:79083
Thauvin-Robinet-Faivre Syndrome	Macrocephaly, Pedal edema, Ventricular septal defect, Renal cyst, Long hallux, Large hands, Bifid...	OMIM:617107
Ulnar-Mammary Syndrome	Delayed puberty, Aplasia of the pectoralis major muscle, Hypoplasia of penis, Abnormal finger mor...	ORPHA:3138
Campomelic Dysplasia	Disproportionate short-limb short stature, Dislocated radial head, Hypoplastic iliac wing, Femora...	OMIM:114290
48,Xxxy Syndrome	Brachycephaly, Taurodontia, Clinodactyly of the 5th finger, Talipes equinovarus, Hypoplasia of pe...	ORPHA:96263
Transaldolase Deficiency	Thin vermilion border, Short philtrum, Patent foramen ovale, Coarctation of aorta, Wide mouth, Pa...	OMIM:606003
Alveolar Echinococcosis	Abnormal bladder morphology, Budd-Chiari syndrome, Renal cyst, Portal hypertension, Abnormal pelv...	ORPHA:284
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Renal hypoplasia/aplasia, Abnormal metacarpal morphology, Finger syndactyly, Aplasia/Hypoplasia o...	ORPHA:1112
Pediatric-Onset Graves Disease	Congestive heart failure, Craniosynostosis, Atrial fibrillation, Increased fetal movement, Sinus ...	ORPHA:525731
Pierson Syndrome	Posterior lenticonus, Microphthalmia, Hypoplasia of the ciliary body, Retinal detachment, Remnant...	OMIM:609049
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Broad distal phalanx of finger, Dental crowding, Pulmonic stenosis, Aortic valve stenosis, Broad ...	ORPHA:353281
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Dental crowding, Microcephaly, Arachnodactyly, Slender long bones with narrow diaphyses, Colpocep...	OMIM:620083
Noonan Syndrome 7	Macrocephaly, Deep palmar crease, Cubitus valgus, Abnormal esophagus morphology, Hypertrophic car...	OMIM:613706
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Macrocephaly, Hypospadias, Bilateral cleft palate, Polymicrogyria, High palate, Unilateral microp...	OMIM:618874
Hereditary Pheochromocytoma-Paraganglioma	Congestive heart failure, Hematuria, Aniridia, Glomerular sclerosis, Hypertension associated with...	ORPHA:29072
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion	Short philtrum, Abnormality of the dentition, Biparietal narrowing, Short stature, Microcephaly, ...	ORPHA:261190
Tuberous Sclerosis Complex	Abnormality of the kidney, Cardiac rhabdomyoma, Aortic aneurysm, Polycystic kidney dysplasia, Cor...	ORPHA:805
Pulmonary Atresia With Ventricular Septal Defect	Ventricular septal defect, Pulmonary artery atresia	OMIM:178370
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Pseudo-Torch Syndrome 1	Cerebellar hypoplasia, Lissencephaly, Petechiae, Cerebral calcification, Patent foramen ovale, Po...	OMIM:251290
American Trypanosomiasis	Myocarditis, Congestive heart failure, Aganglionic megacolon, Cardiomyopathy, Arrhythmia, Edema, ...	ORPHA:3386
Oculocerebrocutaneous Syndrome	Tessier cleft, Orofacial cleft, Finger syndactyly, Hydrocephalus, Dandy-Walker malformation, Poly...	ORPHA:1647
Hypomelanosis Of Ito	Cerebral atrophy, Radial deviation of finger, Thick lower lip vermilion, Macrocephaly, Microcepha...	OMIM:300337
Terminal Osseous Dysplasia	Mesomelic arm shortening, Abnormal hand bone ossification, Camptodactyly of toe, Camptodactyly of...	OMIM:300244
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Orofacial cleft, Plagiocephaly, Increased nuchal translucency, Intestinal malrotation, Incomplete...	ORPHA:77300
Heart Defects, Congenital, And Other Congenital Anomalies	Ureteral duplication, Microcolon, Pulmonic stenosis, Intestinal malrotation, Microcephaly, Umbili...	OMIM:600001
X-Linked Lissencephaly With Abnormal Genitalia	Aganglionic megacolon, Hypoplasia of penis, Microcephaly, Agenesis of corpus callosum, Patent duc...	ORPHA:452
15Q11.2 Microdeletion Syndrome	Abnormal palate morphology, Total anomalous pulmonary venous return, Thick cerebral cortex, Dilat...	ORPHA:261183
Hemochromatosis, Neonatal	Intrauterine growth retardation, Oligohydramnios, Abnormal bleeding, Nonimmune hydrops fetalis	OMIM:231100
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Microcephaly, Sick sinus syndrome, Patent foramen ovale, Bradycardia	OMIM:617182
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Hypoplasia of the corpus callosum, Plagiocephaly, Clinodactyly of the 5th finger, Unilateral rena...	ORPHA:457284
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Abnormally large globe, Hydrocephalus, Progressive microcephaly, Type II lissence...	OMIM:615249
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Urinary incontinence, Right axis deviation, Sinus tachycardia, Pl...	OMIM:232300
Factor Xiii, A Subunit, Deficiency Of	Spontaneous hematomas, Abnormal bleeding, Gingival bleeding, Abnormal umbilical stump bleeding, J...	OMIM:613225
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	High, narrow palate, Macrocephaly, Short philtrum, Renal tubular acidosis, Hydrocephalus, Dilated...	OMIM:619575
Cystic Echinococcosis	Abnormal pulmonary thoracic imaging finding, Abnormal subpleural morphology, Renal cyst, Eosinoph...	ORPHA:400
Frontonasal Dysplasia 2	Brachycephaly, Hypoplasia of the corpus callosum, Microphthalmia, Widely spaced teeth, Encephaloc...	OMIM:613451
Tempi Syndrome	Abnormality of the kidney, Abnormality of the pulmonary vasculature, Transudative pleural effusio...	ORPHA:284227
Chondrodysplasia Punctata 2, X-Linked Dominant	Postnatal growth retardation, Microphthalmia, Polyhydramnios, Rhizomelia, Epiphyseal stippling, D...	OMIM:302960
Juvenile Polyposis Of Infancy	Gastrointestinal hemorrhage, Broad thumb, Abnormal heart morphology, Hematochezia, Intestinal ble...	ORPHA:79076
Intellectual Developmental Disorder, Autosomal Recessive 71	Macrocephaly, Unilateral renal agenesis, Abnormally large globe, Increased overbite, Ventricular ...	OMIM:618504
Alstrom Syndrome	Polydactyly, Congestive heart failure, Hypertension, Hyperostosis frontalis interna, Abnormality ...	OMIM:203800
Renal Hypoplasia, Bilateral	Decreased glomerular filtration rate, Hypertension, Vesicoureteral reflux, Beta 2-microglobulinur...	ORPHA:97362
Poland Syndrome	Aplasia of the pectoralis major muscle, Renal hypoplasia/aplasia, Short ribs, Ureterocele, Microc...	ORPHA:2911
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Elevated pulmonary artery pressure, Ileal atresia, Bidirectional shunt, Thoracic aortic aneurysm,...	OMIM:619351
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Plagiocephaly, Muscular ventricular septal defect, Unilateral renal agenesis, Esophageal atresia,...	OMIM:619227
Weaver Syndrome	Abnormal metaphysis morphology, Macrocephaly, Sandal gap, Hypoplasia of penis, Finger syndactyly,...	ORPHA:3447
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Tessier cleft, Bilateral microphthalmos, High, narrow palate, Ethmoidal encephalocele, Optic nerv...	OMIM:607597
Chromosome 17Q12 Duplication Syndrome	Microphthalmia, Esophageal atresia, Cleft soft palate, Broad thumb, Brachydactyly, Smooth philtru...	OMIM:614526
Specc1L-Related Hypertelorism Syndrome	Brachycephaly, Orofacial cleft, Advanced eruption of teeth, Thin vermilion border, Clinodactyly o...	ORPHA:1519
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Microphthalmia, Hydrocephalus, Optic nerve hypoplasia, Polymicrogyria, Type II lissencephaly, Hyp...	OMIM:615181
Wyburn-Mason Syndrome	Arteriovenous malformation, Vascular dilatation, Peripheral arteriovenous fistula, Gingival bleed...	ORPHA:53719
Anemia, Congenital Dyserythropoietic, Type Iv	Hydrops fetalis, Hypospadias, Hypertrophic cardiomyopathy, Short stature, Frontal bossing, Microp...	OMIM:613673
Microform Holoprosencephaly	Orofacial cleft, Solitary median maxillary central incisor, Short philtrum, Hypoplasia of penis, ...	ORPHA:280200
Renpenning Syndrome 1	Microphthalmia, Microcephaly, Hypospadias, Short philtrum, Phimosis, Camptodactyly, Short stature...	OMIM:309500
Spinal Arteriovenous Metameric Syndrome	Abnormality of the kidney, Congestive heart failure, Spinal arteriovenous malformation, Arteriove...	ORPHA:53721
Extracranial Carotid Artery Aneurysm	Arteritis, Arteriosclerosis, Vasculitis, Stroke, Hypertension, Cerebral ischemia, Total anomalous...	ORPHA:494424
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations	Situs inversus totalis, Porencephalic cyst, Tetralogy of Fallot, Agenesis of cerebellar vermis, C...	OMIM:601322
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Cerebral atrophy, Plagiocephaly, Hypoplasia of the corpus callosum, Hypospadias, Renal tubular ac...	OMIM:615471
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Purpura, Pulmonary embolism, Cerebral hemorrhage	OMIM:614514
Skraban-Deardorff Syndrome	Hypoplasia of the corpus callosum, Absent cupid's bow, Widely spaced teeth, Right aortic arch, Th...	OMIM:617616
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii	Short 4th metacarpal, Type E brachydactyly, Short metatarsal, Short stature, Atrial septal defect	OMIM:113301
Afibrinogenemia, Congenital	Hematemesis, Abnormal bleeding, Epidural hemorrhage, Gingival bleeding, Prolonged bleeding follow...	OMIM:202400
Arachnoid Cyst	Urinary incontinence, Encephalocele, Hydrocephalus, Urinary bladder sphincter dysfunction, Abnorm...	ORPHA:2356
Jansen-De Vries Syndrome	Parietal foramina, Short stature, Thin upper lip vermilion, Wide mouth, Brachydactyly, Bicuspid a...	OMIM:617450
Branchiooculofacial Syndrome	Microphthalmia, Proximal placement of thumb, Microcephaly, Malrotation of colon, Intrauterine gro...	OMIM:113620
Spondylometaphyseal Dysplasia, Sedaghatian Type	Narrow greater sciatic notch, Turricephaly, Cone-shaped epiphyses of the phalanges of the hand, S...	OMIM:250220
Pfeiffer Syndrome Type 1	Brachycephaly, Aqueductal stenosis, Short hallux, Aplasia/Hypoplasia of the thumb, Finger syndact...	ORPHA:93258
Silver-Russell Syndrome 3	Postnatal growth retardation, Clinodactyly of the 5th finger, Penoscrotal hypospadias, Relative m...	OMIM:616489
Pfeiffer Syndrome	3-4 toe cutaneous syndactyly, Shortening of all middle phalanges of the fingers, Finger syndactyl...	OMIM:101600
Down Syndrome	Bilateral single transverse palmar creases, Delayed puberty, Renal hypoplasia/aplasia, Sandal gap...	ORPHA:870
Codas Syndrome	Hydroureter, Delayed eruption of teeth, Abnormal dental enamel morphology, Short metacarpal, Abno...	ORPHA:1458
Aapoaiv Amyloidosis	Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Atrial flutter, Left bund...	ORPHA:439232
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Corneopalpebral synechiae, Vaginal atresia, Anophthalmia	OMIM:248450
Pfeiffer Syndrome Type 3	Aqueductal stenosis, Short hallux, Finger syndactyly, Vesicoureteral reflux, High palate, Short f...	ORPHA:93260
Isovaleric Acidemia	Elevated urinary isovalerylglycine level, Hyperglycinuria, Cerebellar hemorrhage, Dehydration	OMIM:243500
Double Outlet Right Ventricle	Truncus arteriosus, Narrow mouth, Pulmonary artery atresia, Pulmonic stenosis, Intestinal malrota...	ORPHA:3426
Split-Hand/Foot Malformation 1	Triphalangeal thumb, Split hand, Ectrodactyly, Finger aplasia, Split foot, Cleft palate, Foot oli...	OMIM:183600
Cutis Laxa, Autosomal Recessive, Type Iid	Hypoplasia of the corpus callosum, Congestive heart failure, Atrial septal defect, Pneumothorax, ...	OMIM:617403
Kabuki Syndrome 1	Prominent fingertip pads, Intestinal malrotation, Microcephaly, Recurrent aspiration pneumonia, L...	OMIM:147920
Cardiomyopathy, Dilated, 1A	Congestive heart failure, Atrial flutter, Atrial fibrillation, Pericardial effusion, Sinus bradyc...	OMIM:115200
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Cubitus valgus, Hydrocephalus, Ureteral triplication, High palate, Congenital hip dislocation, Um...	OMIM:104350
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Hematuria, Cerebellar vermis hypoplasia, Dandy-Walker malformation, Short stature, Trigonocephaly...	OMIM:616901
Arima Syndrome	Tubulointerstitial fibrosis, Hypertension, Wide mouth, Renal sodium wasting, Stage 5 chronic kidn...	OMIM:243910
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Delayed puberty, Congestive heart failure, Medial calcification of large arteries, Patent foramen...	ORPHA:391487
Acrofrontofacionasal Dysostosis	Brachycephaly, Hypospadias, Non-midline cleft of the upper lip, High palate, Abnormal epiphysis m...	ORPHA:1784
Costello Syndrome	Narrow palate, Thick lower lip vermilion, Macrocephaly, Polyhydramnios, Abnormal dental enamel mo...	ORPHA:3071
Radio-Tartaglia Syndrome	Fetal distress, High, narrow palate, Short philtrum, Dental crowding, High palate, Microcephaly, ...	OMIM:619312
Mckusick-Kaufman Syndrome	Aganglionic megacolon, Hydroureter, Rectovaginal fistula, Vesicovaginal fistula, Polycystic kidne...	OMIM:236700
Kabuki Syndrome	Renal hypoplasia/aplasia, Hypoplasia of penis, Microdontia, Microcephaly, Short 5th finger, Ventr...	ORPHA:2322
Cerebral Cavernous Malformations 3	Cerebral cavernous malformation, Cerebral hemorrhage	OMIM:603285
Chromosome 2Q35 Duplication Syndrome	Distal symphalangism of hands, 2-3 toe syndactyly, 3-4 finger syndactyly, Cutaneous syndactyly, S...	OMIM:185900
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Hypoplasia of the ulna, Microphthalmia, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the...	ORPHA:1352
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Restrictive cardiomyopathy, Right atrial enlargement, Pericardial effusion, Nonimmune hydrops fet...	OMIM:619313
Thakker-Donnai Syndrome	Transposition of the great arteries, Rectovaginal fistula, Narrow mouth, Tracheoesophageal fistul...	ORPHA:1780
Mandibulofacial Dysostosis-Microcephaly Syndrome	Secondary microcephaly, Accessory oral frenulum, Short stature, Trigonocephaly, Cleft palate, Pre...	ORPHA:79113
Singleton-Merten Syndrome 1	Aortic arch calcification, Eruption failure, Short dental root, Expanded phalanges with widened m...	OMIM:182250
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Macrocephaly, Clinodactyly of the 5th finger, Hypoplastic philtrum, Intestinal malrotation, Micro...	OMIM:616682
Joubert Syndrome 15	Exencephaly, Preaxial polydactyly, Nephronophthisis, Micropenis	OMIM:614464
Congenital Alveolar Capillary Dysplasia	Pulmonary valve atresia, Single umbilical artery, Atrioventricular canal defect, Aganglionic mega...	ORPHA:210122
Norrie Disease	Optic atrophy, Microphthalmia, Buphthalmos, Retinal dysplasia, Retinal detachment, Corneal opacit...	OMIM:310600
Nevus Comedonicus Syndrome	Preaxial polydactyly, Spina bifida occulta, Finger syndactyly, Spina bifida, Microcephaly, Toe sy...	ORPHA:64754
Laurin-Sandrow Syndrome	Mirror image polydactyly, Tarsal synostosis, Abnormality of the wrist, Abnormal metacarpal morpho...	ORPHA:2378
Verloove Vanhorick-Brubakk Syndrome	Tarsal synostosis, Abnormal femur morphology, Abnormal metacarpal morphology, Finger syndactyly, ...	ORPHA:3429
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Plagiocephaly, Macrocephaly, Clinodactyly of the 5th finger, Syndactyly, Tapered finger	OMIM:618725
Holoprosencephaly 13, X-Linked	Semilobar holoprosencephaly, Solitary median maxillary central incisor, Duodenal atresia, Alobar ...	OMIM:301043
Cardioacrofacial Dysplasia 2	Left superior vena cava draining to coronary sinus, Atrioventricular canal defect, Clinodactyly o...	OMIM:619143
Silver-Russell Syndrome 1	Clinodactyly of the 5th finger, Hypospadias, Short middle phalanx of the 5th finger, Abnormality ...	OMIM:180860
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Short stature, Congestive heart failure, Stroke	ORPHA:3077
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Brachycephaly, Tented upper lip vermilion, Lateral ventricle dilatation, Short corpus callosum, L...	OMIM:619972
Chromosome 15Q25 Deletion Syndrome	Hypoplasia of the corpus callosum, Thin vermilion border, Flat occiput, Dextrocardia, Coronary ar...	OMIM:614294
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Cerebral atrophy, Hypoplasia of the corpus callosum, Enlarged sylvian cistern, Cerebellar vermis ...	OMIM:615802
Distal Deletion 3P	Brachycephaly, Thin vermilion border, Atrioventricular canal defect, Clinodactyly of the 5th fing...	ORPHA:1620
Kaufman Oculocerebrofacial Syndrome	Intestinal malrotation, Microcephaly, Ventriculomegaly, Short stature, Carious teeth, Thin upper ...	OMIM:244450
Familial Afibrinogenemia	Abnormal bleeding, Gingival bleeding, Epistaxis, Cerebral hemorrhage, Joint swelling	ORPHA:98880
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Postnatal growth retardation, Microphthalmia, Atrioventricular canal defe...	OMIM:619135
Congenital Disorder Of Glycosylation, Type Iia	Postnatal growth retardation, Thin vermilion border, Brachycephaly, Macrocephaly, Proximal placem...	OMIM:212066
Atelis Syndrome 2	Microphthalmia, Thick lower lip vermilion, Single transverse palmar crease, High palate, Supraval...	OMIM:620185
Aniridia-Absent Patella Syndrome	Cataract, Cryptorchidism, Aniridia	ORPHA:1069
Hereditary Amyloidosis With Primary Renal Involvement	Congestive heart failure, Gastrointestinal hemorrhage, Renal interstitial amyloid deposits, Intes...	ORPHA:85450
Micro Syndrome	Optic atrophy, Delayed puberty, Microphthalmia, Hypoplasia of penis, Microcornea, Hypoplastic lab...	ORPHA:2510
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr...	OMIM:616117
Symptomatic Form Of Hfe-Related Hemochromatosis	Congestive heart failure, Elevated jugular venous pressure, Cardiomyopathy, Portal hypertension, ...	ORPHA:465508
Cerebrooculofacioskeletal Syndrome 2	Rocker bottom foot, Microphthalmia, Growth delay, Camptodactyly of finger, Microcephaly, Intraute...	OMIM:610756
Cutis Marmorata Telangiectatica Congenita	Orofacial cleft, Purpura, Arteriovenous malformation, Finger syndactyly, Abnormality of the upper...	ORPHA:1556
Heterotaxy, Visceral, 12, Autosomal	Pulmonic stenosis, Discordant atrioventricular connection, Patent foramen ovale, Common atrium, P...	OMIM:619702
Warsaw Breakage Syndrome	Postnatal growth retardation, Clinodactyly of the 5th finger, Single transverse palmar crease, 2-...	OMIM:613398
Santos Syndrome	Polydactyly, Preaxial polydactyly, Genu valgum, Oligodactyly, Metatarsus adductus, Postaxial poly...	OMIM:613005
Ivic Syndrome	Limited elbow movement, Intestinal malrotation, Absent thumb, Hypoplasia of the ulna, Hypoplasia ...	OMIM:147750
Wiskott-Aldrich Syndrome	Hematemesis, Spontaneous hematomas, Glomerulopathy, Purpura, Petechiae, Vasculitis, Abnormal eosi...	ORPHA:906
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Brachycephaly, 2-3 toe cutaneous syndactyly, Widely spaced teeth, Clinodactyly of the 5th finger,...	OMIM:300260
Al Amyloidosis	Gastrointestinal hemorrhage, Abnormal heart morphology, Abnormal cardiac atrium morphology, Postu...	ORPHA:85443
Atelis Syndrome 1	High palate, Bronchiectasis, Carious teeth, Long philtrum, Atrial septal defect, Ventricular sept...	OMIM:620184
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia, Macrocephaly, Short philtrum, Joint contracture of the 5th finger, Single transve...	OMIM:620098
Codas Syndrome	Proximal placement of thumb, Delayed ossification of carpal bones, Short metacarpal, Broad skull,...	OMIM:600373
Kennedy Disease	Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Testicular atrophy	ORPHA:481
Danon Disease	Congestive heart failure, Wolff-Parkinson-White syndrome, Cardiomegaly, Atrial arrhythmia, Myocar...	OMIM:300257
Hanac Syndrome	Hematuria, Multiple renal cysts, Renal insufficiency	ORPHA:73229
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Intestinal pseudo-obstruction, Scapular winging, Mitral valve prolapse, Dilated cardiomyopathy, M...	OMIM:607459
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve...	OMIM:607450
Autoerythrocyte Sensitization Syndrome	Gastrointestinal hemorrhage, Hematuria, Menorrhagia, Joint hemorrhage, Epistaxis, Ecchymosis, Int...	ORPHA:324636
Bent Bone Dysplasia Syndrome 2	Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Hypoplastic acetabulae, Femoral bowing, Rela...	OMIM:620076
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Hypospadias, Finger syndactyly, Single transverse palmar crease, Dental crowding, Severe postnata...	ORPHA:435938
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Bilateral lung agenesis, Coarctation of aorta, Neonatal death, Patent ductus arteriosus, Abnormal...	OMIM:601612
Oculodentodigital Dysplasia, Autosomal Recessive	Brachycephaly, 2-4 toe cutaneous syndactyly, Microphthalmia, Hypoplasia of the primary teeth, Lon...	OMIM:257850
Mesomelic Dysplasia, Nievergelt Type	Bilateral single transverse palmar creases, Abnormal fibula morphology, Brachycephaly, Tarsal syn...	ORPHA:2633
Meckel Syndrome 13	Polycystic kidney dysplasia, Occipital encephalocele, Cerebellar hypoplasia	OMIM:617562
Wiedemann-Rautenstrauch Syndrome	Relative macrocephaly, Severe intrauterine growth retardation, Cranial asymmetry, Pulmonic stenos...	ORPHA:3455
Cardiofaciocutaneous Syndrome 3	Hypertrophic cardiomyopathy, Pulmonic stenosis, Short stature, Wide mouth, Atrial septal defect, ...	OMIM:615279
Dpagt1-Cdg	Hypoplasia of the corpus callosum, Global brain atrophy, Anasarca, Prolonged QT interval, Camptod...	ORPHA:86309
Trichohepatoneurodevelopmental Syndrome	Steatorrhea, Thin corpus callosum, Dental crowding, Microdontia, Microcephaly, Premature birth, W...	OMIM:618268
Costello Syndrome	Limited elbow movement, Pulmonic stenosis, Premature birth, Mitral valve prolapse, Ventriculomega...	OMIM:218040
Holoprosencephaly 1	Tessier cleft, Microphthalmia, Proboscis, Alobar holoprosencephaly, Median cleft palate, Short st...	OMIM:236100
Spondylo-Ocular Syndrome	Thin vermilion border, Microphthalmia, Aplasia/Hypoplasia of the lens, Short stature, Disproporti...	ORPHA:85194
Adnp Syndrome	Urinary incontinence, Focal white matter lesions, Sandal gap, Abnormal finger morphology, Broad t...	ORPHA:404448
Kinsship Syndrome	Dislocated radial head, Microcephaly, Mesomelia, Wide mouth, Cervical ribs, Ventriculomegaly, Pri...	OMIM:619297
Acromelic Frontonasal Dysplasia	Brachycephaly, Patellar hypoplasia, Encephalocele, Meningocele, Median cleft palate, Aplasia/Hypo...	ORPHA:1827
Methimazole Embryofetopathy	Polyhydramnios, Esophageal atresia, Hypospadias, Abnormal aortic morphology, Calvarial skull defe...	ORPHA:1923
Warburg Micro Syndrome 2	Optic atrophy, Microphthalmia, Small scrotum, Microcornea, Developmental cataract, Cataract, Cryp...	OMIM:614225
Kawasaki Disease	Myocarditis, Congestive heart failure, Cheilitis, Abnormal pulmonary interstitial morphology, Rec...	ORPHA:2331
Lethal Acantholytic Erosive Disorder	Clinodactyly of the 5th finger, 4-5 finger syndactyly, Cardiomyopathy, Hypovolemic shock, Camptod...	ORPHA:158687
Hydranencephaly	Postnatal growth retardation, Optic nerve hypoplasia, Abnormal internal carotid artery morphology...	ORPHA:2177
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly, Premature birth, Nonimmune hydrops fetalis, Intrauterine growth retardation	OMIM:618838
Branchiootorenal Syndrome 1	Renal steatosis, Abnormal renal collecting system morphology, Unilateral renal agenesis, Increase...	OMIM:113650
Desmosterolosis	Macrocephaly, Rhizomelia, Gingival fibromatosis, Hydrocephalus, Relative macrocephaly, Total anom...	OMIM:602398
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia	Atrial septal defect, Urinary incontinence, Pachygyria	OMIM:620094
Beaulieu-Boycott-Innes Syndrome	Unilateral renal agenesis, Recurrent urinary tract infections, Microcephaly, Carious teeth, Velop...	OMIM:613680
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Enlarged kidney, Hypertension, Ascites, Oliguria, Stage 5 chronic ki...	ORPHA:731
Myopia 28, Autosomal Recessive	Retinal detachment, Cataract	OMIM:619781
Spinocerebellar Ataxia 32	Infertility, Testicular atrophy, Azoospermia	OMIM:613909
Avian Influenza	Ground-glass opacification, Congestive heart failure, Acute kidney injury, Pneumothorax, Pleural ...	ORPHA:454836
Ectodermal Dysplasia-Syndactyly Syndrome 2	Palmoplantar keratoderma, Enamel hypoplasia, Syndactyly, Cardiomegaly, Thin upper lip vermilion	OMIM:613576
Congenital Factor X Deficiency	Prolonged prothrombin time, Spontaneous hematomas, Gastrointestinal hemorrhage, Hematuria, Post-p...	ORPHA:328
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Hypoplasia of the corpus callosum, Plagiocephaly, Short philtrum, Tapered distal phalanges of fin...	ORPHA:371364
Mungan Syndrome	Perimembranous ventricular septal defect, Intestinal pseudo-obstruction, Vesicoureteral reflux, B...	OMIM:611376
Dengue Fever	Gastrointestinal hemorrhage, Petechiae, Gingival bleeding, Hypotension, Ascites, Epistaxis, Cereb...	ORPHA:99828
Neu-Laxova Syndrome 2	Rocker bottom foot, Decreased fetal movement, Polyhydramnios, Lissencephaly, Finger syndactyly, H...	OMIM:616038
Acquired Purpura Fulminans	Prolonged prothrombin time, Macular purpura, Internal hemorrhage, Intracranial hemorrhage, Shock	ORPHA:49566
Stankiewicz-Isidor Syndrome	Ureteral duplication, Hypospadias, 2-3 toe syndactyly, Truncus arteriosus, Absent thumb, Short th...	OMIM:617516
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies	Narrow palate, Plagiocephaly, Hypoplasia of the corpus callosum, Microcephaly, Cerebral cortical ...	OMIM:617481
Blindness-Scoliosis-Arachnodactyly Syndrome	Microphakia, Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation	ORPHA:171844
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Recurrent respiratory infections, High palate, Abnormality of the dentition, Pulmonic stenosis, R...	OMIM:618282
Multiple Pterygium-Malignant Hyperthermia Syndrome	Broad alveolar ridges, Arachnodactyly, Severe short stature, Long philtrum, Advanced eruption of ...	ORPHA:2215
Histiocytosis-Lymphadenopathy Plus Syndrome	Rocker bottom foot, Flexion contracture of toe, Joint contracture of the 5th finger, Pulmonic ste...	OMIM:602782
Bartsocas-Papas Syndrome 1	Microphthalmia, Ectopic kidney, Hypoplastic iliac wing, Oligodactyly, Short metacarpal, Absent th...	OMIM:263650
Holoprosencephaly-Caudal Dysgenesis Syndrome	Radial club hand, Microcephaly, Cleft palate, Holoprosencephaly, Premature birth, Abnormal cerebr...	ORPHA:2165
Renal Hypodysplasia/Aplasia 3	Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Renal dysplasia, Multicystic kidney dyspla...	OMIM:617805
Congenital Disorder Of Glycosylation, Type Iim	Cerebral atrophy, Hypoplasia of the corpus callosum, Short philtrum, Vesicovaginal fistula, Hyper...	OMIM:300896
Mowat-Wilson Syndrome	Microphthalmia, Pulmonic stenosis, Microcephaly, Abnormal heart morphology, Abnormal enteric gang...	OMIM:235730
Triokinase And Fmn Cyclase Deficiency Syndrome	Cerebellar hypoplasia, Dilated cardiomyopathy, Microphthalmia, Reduced systolic function	OMIM:618805
Cenani-Lenz Syndrome	Renal hypoplasia/aplasia, Oligodactyly, Hip dislocation, Hypoplasia of the ulna, Hypoplasia of th...	ORPHA:3258
Spinocerebellar Ataxia Type 32	Male infertility, Testicular atrophy, Azoospermia	ORPHA:276183
Cantú Syndrome	Abnormal metaphysis morphology, Long philtrum, Macrocephaly, Short hallux, Finger syndactyly, Abn...	ORPHA:1517
Grant Syndrome	Brachycephaly, Abnormal palate morphology, Open bite, Abnormal pelvic girdle bone morphology, Bow...	ORPHA:2097
Hydrolethalus Syndrome 2	Anencephaly, Hydrocephalus, Postaxial hand polydactyly, Cleft palate, Agenesis of corpus callosum...	OMIM:614120
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures	Brachycephaly, Plagiocephaly, Hypoplasia of the corpus callosum, Polyhydramnios, High palate, Inc...	OMIM:618862
Frontometaphyseal Dysplasia 1	Limited elbow movement, Dislocated radial head, Wrist flexion contracture, Arachnodactyly, Increa...	OMIM:305620
Lethal Congenital Contracture Syndrome 1	Abnormality of the amniotic fluid, Neonatal death, Pulmonary hypoplasia, Edema, Paucity of anteri...	OMIM:253310
Trichothiodystrophy 4, Nonphotosensitive	Microphthalmia, Growth delay, Hypoplasia of teeth, Microcephaly, Cerebral cortical atrophy, Ventr...	OMIM:234050
Braddock-Carey Syndrome 2	Microphthalmia, Microcephaly, Cleft palate, Pierre-Robin sequence, Wide mouth, Clinodactyly	OMIM:619981
Ectopia Lentis Et Pupillae	Iris transillumination defect, Retinal detachment, Persistent pupillary membrane, Ectopia lentis,...	OMIM:225200
Bardet-Biedl Syndrome 1	Abnormality of the kidney, High, narrow palate, Radial deviation of finger, Aganglionic megacolon...	OMIM:209900
Nabais Sa-De Vries Syndrome, Type 1	Brachycephaly, Clinodactyly of the 5th finger, Optic nerve hypoplasia, Vesicoureteral reflux, Sim...	OMIM:618828
Acrodysostosis	Abnormal femur morphology, Short metacarpal, Cone-shaped epiphysis, Coxa valga, Genu varum, Hypop...	ORPHA:950
Peroxisome Biogenesis Disorder 3A (Zellweger)	Polycystic kidney dysplasia, Vascular dilatation, Epiphyseal stippling	OMIM:614859
Tracheobronchopathia Osteochondroplastica	Atelectasis, Bronchitis, Esophagitis, Recurrent pneumonia, Pneumonia, Recurrent respiratory infec...	ORPHA:3348
Cleidocranial Dysplasia, Recessive Form	Brachycephaly, Severe short stature	OMIM:216330
Intellectual Developmental Disorder, Autosomal Dominant 47	Cerebral atrophy, Single umbilical artery, Increased nuchal translucency, Widely-spaced incisors,...	OMIM:617635
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Situs inversus totalis, Dextrocardia, Polycystic kidney dysplasia, Recurrent urinary tract infect...	OMIM:613095
Myhre Syndrome	Gingival cleft, Hypertension, Large iliac wing, Bifid uvula, Unilateral cleft lip, Severe short s...	ORPHA:2588
Lenz-Majewski Hyperostotic Dwarfism	Abnormal finger morphology, Bifid uvula, Symphalangism affecting the phalanges of the hand, Wide ...	ORPHA:2658
Isolated Aniridia	Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly, Aniridia	ORPHA:250923
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Secondary microcephaly, Short philtrum, Prominent fingertip pads, High palate, Short stature, Ara...	OMIM:300986
20P13 Microdeletion Syndrome	Polydactyly, Macrocephaly, Finger syndactyly, Microcephaly, Tented upper lip vermilion, Brachydac...	ORPHA:313781
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Ureteral duplication, Pulmonic stenosis, Intestinal malrotation, Cervical ribs, Umbilical hernia,...	ORPHA:2255
Bohring-Opitz Syndrome	Bradycardia, Trigonocephaly, Microcephaly, Cardiomegaly, Ventriculomegaly, Intrauterine growth re...	ORPHA:97297
8p23.1 deletion syndrome	Atrial septal defect, Atrioventricular canal defect, Abnormal heart morphology	DECIPHER:39
Hand-Foot-Genital Syndrome	Clinodactyly of the 5th finger, Hypospadias, Proximal placement of thumb, Short first metatarsal,...	ORPHA:2438
Poland Syndrome	Hypoplasia of deltoid muscle, Dextrocardia, Short ribs, Unilateral oligodactyly, Syndactyly, Rib ...	OMIM:173800
Schimmelpenning-Feuerstein-Mims Syndrome	Abnormality of dental color, Abnormal finger morphology, Cranial asymmetry, Hemimegalencephaly, A...	OMIM:163200
Hypomandibular Faciocranial Dysostosis	Brachycephaly, Polyhydramnios, Recurrent respiratory infections, Narrow mouth, Trigonocephaly, Bi...	ORPHA:1790
Interatrial Communication	Congestive heart failure, Atrial septal defect, Atrial flutter, Sinus venosus atrial septal defec...	ORPHA:1478
Desbuquois Dysplasia 2	Dental crowding, Short long bone, Flat acetabular roof, Short metacarpal, Relative macrocephaly, ...	OMIM:615777
Radio-Renal Syndrome	Hypoplasia of the radius, High, narrow palate, Renal hypoplasia/aplasia, Abnormality of the elbow...	ORPHA:3015
Fadd-Related Immunodeficiency	Cerebral atrophy, Ventricular septal defect, Pulmonary artery atresia	ORPHA:306550
Intellectual Developmental Disorder, X-Linked, Syndromic 12	Postnatal growth retardation, Brachycephaly, Thick lower lip vermilion, Thick upper lip vermilion...	OMIM:309545
Chops Syndrome	High, narrow palate, Patent foramen ovale, Vesicoureteral reflux, Anomalous pulmonary venous retu...	OMIM:616368
Tbck-Related Intellectual Disability Syndrome	Hypoplasia of the corpus callosum, Broad finger, High, narrow palate, Global brain atrophy, Macro...	ORPHA:488632
Atrial Septal Defect 4	Atrial septal defect, Patent foramen ovale, Coarctation of aorta	OMIM:611363
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Radial deviation of finger, Microcephaly, Umbilical hernia, Clinodactyly, Coxa valga, Perimembran...	OMIM:301040
Aplasia Cutis Congenita	Finger syndactyly, Toe syndactyly, Spinal dysraphism, Calvarial skull defect, Prolonged bleeding ...	ORPHA:1114
Septooptic Dysplasia	Polydactyly, Short finger, Optic disc hypoplasia, Optic nerve hypoplasia, Short stature, Agenesis...	OMIM:182230
Crimean-Congo Hemorrhagic Fever	Hematemesis, Spontaneous hematomas, Bradycardia, Hypertension, Ascites, Epistaxis, Diffuse alveol...	ORPHA:99827
Familial Nasal Acilia	Bronchiectasis, Atelectasis, Recurrent upper respiratory tract infections	ORPHA:922
Brachytelephalangic Chondrodysplasia Punctata	Postnatal growth retardation, Optic disc hypoplasia, Epiphyseal stippling of toe phalanges, Epiph...	ORPHA:79345
Delpire-Mcneill Syndrome	Cortical dysplasia, Tracheoesophageal fistula, Agenesis of corpus callosum, Ventricular septal de...	OMIM:619083
Polydactyly, Preaxial Iv	Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb...	OMIM:174700
Multicentric Osteolysis, Nodulosis, And Arthropathy	Thin metacarpal cortices, Wrist flexion contracture, Broad metatarsal, Mitral valve prolapse, Ost...	OMIM:259600
Teebi Hypertelorism Syndrome 2	Clinodactyly of the 5th finger, Hypospadias, Delayed eruption of teeth, High palate, Everted lowe...	OMIM:619736
Frontofacionasal Dysplasia	Tessier cleft, Brachycephaly, Microphthalmia, Hypoplasia of the corpus callosum, Encephalocele, N...	ORPHA:1791
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Microphthalmia, Optic nerve hypoplasia, Type II lissencephaly, Microceph...	OMIM:236670
Shprintzen-Goldberg Craniosynostosis Syndrome	Dislocated radial head, Brachyturricephaly, Microcephaly, Arachnodactyly, Mitral valve prolapse, ...	OMIM:182212
Keutel Syndrome	Pulmonary arterial hypertension, Pulmonary artery stenosis, Short stature, Recurrent sinusitis, S...	ORPHA:85202
Joubert Syndrome 39	Occipital encephalocele, Joint contracture of the 5th finger, Cerebellar vermis hypoplasia, Polyc...	OMIM:619562
Larsen Syndrome	Multiple carpal ossification centers, Short metacarpal, Dislocated wrist, Intrauterine growth ret...	OMIM:150250
Warburg Micro Syndrome 4	Brachycephaly, Hypoplasia of the corpus callosum, Microphthalmia, Secondary microcephaly, Severe ...	OMIM:615663
Primary Non-Essential Cutis Verticis Gyrata	Microcephaly, Periventricular leukomalacia, Atrial septal defect, Ventricular septal defect	ORPHA:357225
Holoprosencephaly-Craniosynostosis Syndrome	Brachycephaly, Plagiocephaly, Clinodactyly of the 5th finger, Short stature, Microcephaly, Holopr...	ORPHA:2163
Congenital Tricuspid Valve Dysplasia	Tricuspid valve prolapse, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Tric...	ORPHA:555874
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Congestive heart failure, Macrocephaly, Arteriovenous malformation, Venous insufficiency, Upper l...	ORPHA:137608
Richieri-Costa/Guion-Almeida Syndrome	Brachycephaly, Spina bifida occulta, Abnormal digit morphology, Short stature, Cleft upper lip, M...	OMIM:268850
Orofaciodigital Syndrome Type 14	Trigonocephaly, Microcephaly, Accessory oral frenulum, Aplasia of the epiglottis, Dandy-Walker ma...	ORPHA:434179
Pheochromocytoma--Islet Cell Tumor Syndrome	Congestive heart failure, Episodic hypertension, Elevated urinary norepinephrine level, Cerebral ...	OMIM:171420
Gms Syndrome	Tricuspid regurgitation, Short stature, Rieger anomaly, Microcephaly, Premature birth	ORPHA:2090
Cockayne Syndrome B	Square pelvis bone, Microphthalmia, Hypoplastic iliac wing, Hypertension, Hypoplastic pelvis, Mic...	OMIM:133540
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay	Cerebral atrophy, Brachycephaly, Hypoplasia of the corpus callosum, Dental crowding, Short statur...	OMIM:615031
Frontometaphyseal Dysplasia	Limited elbow movement, Dislocated radial head, Wrist flexion contracture, Short metacarpal, Broa...	ORPHA:1826
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Congestive heart failure, Neonatal omphalitis, Vesicoureteral reflux, Cardiomyopathy, Growth dela...	OMIM:615895
Legius Syndrome	Polydactyly, Macrocephaly, Clinodactyly of the 5th finger, Nephrolithiasis, Non-small cell lung c...	ORPHA:137605
Exfoliation Syndrome	Mydriasis, Phakodonesis, Iris hypoperfusion, Anisocoria, Pigment deposition in the trabecular mes...	OMIM:177650
Short Stature And Facioauriculothoracic Malformations	High palate, Proportionate short stature, Microcephaly, Cleft upper lip, Cleft palate, Cervical r...	OMIM:609654
Cri-Du-Chat Syndrome	Abnormality of the kidney, Orofacial cleft, Thick lower lip vermilion, Hypospadias, Short metatar...	OMIM:123450
Xq28 (MECP2) duplication	Hypoplasia of the corpus callosum, Brachycephaly, Narrow mouth, Functional abnormality of the bla...	DECIPHER:45
Amoebiasis Due To Entamoeba Histolytica	Lung abscess, Congestive heart failure, Intestinal obstruction, Acute colitis, Pleural empyema, P...	ORPHA:67
Lethal Congenital Contracture Syndrome 2	Polyhydramnios, Hydronephrosis, Decreased fetal movement, Edema, Dilated cardiomyopathy, Ventricu...	OMIM:607598
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Triphalangeal thumb, Finger syndactyly, Everted lower lip vermilion, Abnormal dental morphology, ...	ORPHA:2251
Orofaciodigital Syndrome Iv	Cerebral atrophy, Short finger, Hamartoma of tongue, Tongue nodules, High palate, Porencephalic c...	OMIM:258860
Congenital Left Ventricular Aneurysm	Congestive heart failure, Abnormal left ventricle morphology, Abnormal ST segment, Arrhythmia, Ab...	ORPHA:1055
Distal Duplication 5Q	Hypoplasia of the ulna, Hypoplasia of the radius, Thin vermilion border, Dextrocardia, Hypospadia...	ORPHA:96097
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Inferior cerebellar vermis hypoplasia, Dysgyria, Patent foramen ovale, Cerebral cortical atrophy,...	OMIM:620327
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Microphthalmia, Encephalocele, Hydrocephalus, Type II lissencephaly, Microcephaly, Cleft upper li...	OMIM:613150
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Prolonged prothrombin time, Abnormal bleeding, Epiphyseal stippling, Joint hemorrhage, Epistaxis,...	OMIM:277450
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Left ventricular outflow tract obstruction, Low-output congestive heart failure, Multifocal hyper...	ORPHA:308552
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Abnormal femoral neck/head morphology, Crumpled long bones, Abnormal lower limb b...	ORPHA:2788
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies	Recurrent lower respiratory tract infections, High palate, Broad thumb, Microcephaly, Long hallux...	OMIM:620194
Gorlin Syndrome	Brachycephaly, Orofacial cleft, Macrocephaly, Palmar pits, Odontogenic keratocysts of the jaw, Hy...	ORPHA:377
Bardet-Biedl Syndrome 9	Polydactyly, Postaxial hand polydactyly, Postaxial polydactyly, Syndactyly, Brachydactyly, Renal ...	OMIM:615986
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Renal tubular acidosis, Microcephaly, Glycosuria, Nephrocalcinosis, Proteinuria, Right ventricula...	OMIM:613404
Aicardi Syndrome	Microphthalmia, Proximal placement of thumb, Microcephaly, Lateral ventricle dilatation, Cerebell...	OMIM:304050
Intellectual Developmental Disorder, Autosomal Dominant 1	Sandal gap, Everted lower lip vermilion, Microdontia, Microcephaly, Wide mouth, Cerebellar vermis...	OMIM:156200
Intellectual Developmental Disorder, Autosomal Dominant 64	Plagiocephaly, Clinodactyly of the 5th finger, Short philtrum, Single transverse palmar crease, P...	OMIM:619188
Peroxisome Biogenesis Disorder 11A (Zellweger)	Polymicrogyria, Multiple renal cysts, Renal cyst, Lissencephaly	OMIM:614883
Donnai-Barrow Syndrome	Macrocephaly, Hypoplasia of the iris, Intestinal malrotation, Short sternum, Non-acidotic proxima...	OMIM:222448
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Postnatal growth retardation, Brachycephaly, Microcephaly, Wide mouth, Smooth philtrum, Intrauter...	OMIM:615419
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Macrocephaly, Dental crowding, Persistence of primary teeth, Umbilical hernia, Recurrent pneumoni...	OMIM:619769
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Congestive heart failure, Gastrointestinal hemorrhage, Decreased urinary lysyl-pyridinoline-hydro...	OMIM:225400
Autoinflammatory Disease, Systemic, With Vasculitis	Small vessel vasculitis, Purpura, Hydrops fetalis, Oral ulcer, Parotitis, Ascending tubular aorta...	OMIM:620376
Proteus Syndrome	Macrodactyly, Bronchogenic cyst, Enlarged kidney, Arteriovenous malformation, Abnormal finger mor...	ORPHA:744
Factor Vii Deficiency	Abnormal bleeding, Menorrhagia, Joint hemorrhage, Epistaxis, Intracranial hemorrhage, Bruising su...	OMIM:227500
Whim Syndrome	Severe periodontitis, Atelectasis, Parotitis, Bronchiectasis, Recurrent pneumonia, Tetralogy of F...	ORPHA:51636
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Single umbilical artery, Thin ribs, Short ribs, Anal atresia, Missing ribs, Rib fusion, Dolichoce...	OMIM:271520
Factor X Deficiency	Prolonged prothrombin time, Gingival bleeding, Menorrhagia, Joint hemorrhage, Epistaxis, Intracra...	OMIM:227600
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Cataract, Microcornea, Aniridia	OMIM:106230
Polydactyly, Postaxial, Type A8	Postaxial polydactyly, Genu valgum, Short stature	OMIM:618123
Trichothiodystrophy	Periventricular leukomalacia, Bilateral microphthalmos, High, narrow palate, Cerebral dysmyelinat...	ORPHA:33364
Methylmalonic Aciduria And Homocystinuria, Cblx Type	Brachycephaly, Homocystinuria, Short stature, Microcephaly, Methylmalonic aciduria	OMIM:309541
16P11.2P12.2 Microdeletion Syndrome	Bilateral single transverse palmar creases, Orofacial cleft, Proximal placement of thumb, Tricusp...	ORPHA:261211
Acropectorovertebral Dysplasia	Spina bifida occulta at L5, Finger syndactyly, Synostosis of carpal bones, Broad thumb, Radial de...	OMIM:102510
Tuberous Sclerosis 1	Wolff-Parkinson-White syndrome, Cardiac rhabdomyoma, Gingival fibromatosis, Cerebral calcificatio...	OMIM:191100
Charlie M Syndrome	Thin vermilion border, Triphalangeal thumb, Abnormal metacarpal morphology, Short philtrum, Finge...	ORPHA:1406
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Microphthalmia, Bifid uvula, Broad philtrum, Intrauterine growth retardation, Clinodactyly, Paten...	OMIM:620186
Distal Duplication 17Q	Genu valgum, Rhizomelia, Microcephaly, Short philtrum, Cerebellar hypoplasia, Vesicoureteral refl...	ORPHA:3379
Developmental And Epileptic Encephalopathy 90	Cerebral atrophy, Atrial septal defect, Fetal pyelectasis	OMIM:301058
Noonan Syndrome 3	Tricuspid valve prolapse, Polyhydramnios, Patent foramen ovale, High palate, Hypertrophic cardiom...	OMIM:609942
Bartsocas-Papas Syndrome 2	Microphthalmia, Prominent occiput, Bilateral cleft palate, Absent distal phalanges, 2-5 finger cu...	OMIM:619339
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Plagiocephaly, Atrioventricular canal defect, Thin corpus callosum, Cyst of the ductus choledochu...	OMIM:619480
Autosomal Dominant Spastic Paraplegia Type 9A	Urinary incontinence, Pollakisuria, Corpus callosum atrophy, Urinary urgency, Abnormal cerebral w...	ORPHA:447753
Van Esch-O'Driscoll Syndrome	Cerebral atrophy, Pulmonary valve atresia, Clinodactyly of the 5th finger, Esophageal atresia, Sp...	OMIM:301030
Chromosome 15Q11.2 Deletion Syndrome	Short finger, Plagiocephaly, Single transverse palmar crease, Slender finger, Irregular dentition...	OMIM:615656
Alazami Syndrome	Postnatal growth retardation, Widely spaced teeth, Short philtrum, Slender long bone, Wide mouth,...	ORPHA:319671
Tracheal Agenesis	Polyhydramnios, Aplasia/Hypoplasia of the lungs, Abnormal cardiac septum morphology	ORPHA:3346
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hypoplasia of the corpus callosum, Thin corpus callosum, Atelectasis, Ventricular hypertrophy, Pu...	OMIM:618278
Temtamy Preaxial Brachydactyly Syndrome	Plagiocephaly, Tarsal synostosis, Short metatarsal, Hitchhiker thumb, Short metacarpal, Microdont...	OMIM:605282
Hardikar Syndrome	Hematemesis, Bilateral cleft palate, Hypertension, Intestinal malrotation, Unilateral cleft lip, ...	OMIM:301068
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos, Corpus callosum atrophy, Microcephaly, Diffuse cerebral atrophy, Latera...	ORPHA:77299
Congenital Disorder Of Glycosylation, Type It	Delayed puberty, Prolonged prothrombin time, Cardiomegaly, Pulmonary arterial hypertension, Short...	OMIM:614921
Scorpion Envenomation	Myocarditis, Congestive heart failure, Acute kidney injury, Pulmonary edema, Purpura, Prominent U...	ORPHA:466677
Momo Syndrome	Brachycephaly, Bilateral microphthalmos, Thick lower lip vermilion, Macrocephaly, Delayed eruptio...	ORPHA:2563
Orofaciodigital Syndrome Type 2	Cone-shaped epiphyses of the phalanges of the hand, Abnormal oral frenulum morphology, Tongue nod...	ORPHA:2751
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Thin vermilion border, Dilation of Virchow-Robin spaces, Clinodactyly of the 2nd finger, Hypocalc...	ORPHA:73223
Peutz-Jeghers Syndrome	Esophageal neoplasm, Intestinal obstruction, Gastrointestinal hemorrhage, Rectal prolapse, Neopla...	ORPHA:2869
Noonan Syndrome	Dilatation of the renal pelvis, Abnormal bleeding, Short stature, Pulmonary artery stenosis, Pate...	ORPHA:648
Fanconi Anemia, Complementation Group S	Narrow palate, Microphthalmia, Proximal placement of thumb, Short stature, Microcephaly, Thick up...	OMIM:617883
Stormorken Syndrome	Abnormal bleeding, Hematuria, Short philtrum, Short stature, Stroke-like episode, Epistaxis, Suba...	OMIM:185070
Monosomy 9P	Bilateral single transverse palmar creases, Brachycephaly, Microphthalmia, Proximal placement of ...	ORPHA:261112
Fanconi Anemia, Complementation Group L	Microphthalmia, Unilateral renal agenesis, Esophageal atresia, Hydrocephalus, Tracheoesophageal f...	OMIM:614083
Bardet-Biedl Syndrome 22	Polydactyly, Macrocephaly, Microcephaly, Postaxial foot polydactyly	OMIM:617119
Loeys-Dietz Syndrome 1	Pulmonary artery aneurysm, Arterial tortuosity, Descending thoracic aorta aneurysm, Arachnodactyl...	OMIM:609192
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Supernumerary tooth, Atrioventricular canal defect, Aplasia of the epiglottis, Horseshoe kidney, ...	OMIM:617088
Medulloblastoma	Cerebellar hemorrhage, Hydrocephalus, Neoplasm of the lung, Adenomatous colonic polyposis, Progre...	ORPHA:616
9Q33.3Q34.11 Microdeletion Syndrome	Tented philtrum, Abnormality of the kidney, Thin vermilion border, Brachycephaly, Fixed elbow fle...	ORPHA:495818
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome	Postnatal growth retardation, Left-to-right shunt, Eclabion, Cerebral edema, Moderate to late pre...	OMIM:620510
Crouzon Syndrome	Narrow palate, Brachycephaly, Turricephaly, Hydrocephalus, Multiple suture craniosynostosis, Fron...	ORPHA:207
Kleefstra Syndrome 2	Plagiocephaly, Everted lower lip vermilion, Growth delay, Microcephaly, Bifid uvula	OMIM:617768
Autoimmune Lymphoproliferative Syndrome	Abnormal bleeding, Hydrops fetalis, Gastritis, Recurrent aphthous stomatitis, Vasculitis, Neoplas...	ORPHA:3261
Hellp Syndrome	Prolonged prothrombin time, Acute kidney injury, Pulmonary edema, Pleural effusion, Hypotension, ...	ORPHA:244242
Spondylocarpotarsal Synostosis Syndrome	Limited elbow extension, Tarsal synostosis, Clinodactyly of the 5th finger, Talipes equinovarus, ...	OMIM:272460
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Postnatal growth retardation, Hypoplasia of the corpus callosum, 2-3 toe cutaneous syndactyly, Se...	OMIM:620242
Muscular Dystrophy, Duchenne Type	Congestive heart failure, Cardiomyopathy, Arrhythmia, Dilated cardiomyopathy, Abnormal EKG	OMIM:310200
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia, Histiocytoid cardiomyopathy, Cardiac arrest, Ventricular fibrillation, Lateral ve...	OMIM:300952
Joubert Syndrome 27	Polydactyly, Frontal bossing, Dilatation of the renal pelvis, Thick lower lip vermilion	OMIM:617120
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Pulmonary pneumatocele, Eosinophilic infiltration of the esophagus, Growth delay, Recurrent sinus...	OMIM:243700
Neurodevelopmental Disorder With Spasticity And Poor Growth	Secondary microcephaly, High, narrow palate, Single transverse palmar crease, Patent foramen oval...	OMIM:618076
Telangiectasia, Hereditary Hemorrhagic, Type 1	Tongue telangiectasia, Hematemesis, Nail bed telangiectasia, Gastrointestinal hemorrhage, Dilatat...	OMIM:187300
Lymphangiectasia, Pulmonary, Congenital	Palpebral edema, Facial edema, Polyhydramnios, Recurrent respiratory infections, Chylothorax, Lym...	OMIM:265300
Wolcott-Rallison Syndrome	Dehydration, Ascites, Short stature, Growth delay, Microcephaly, Metaphyseal dysplasia, Chronic k...	ORPHA:1667
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome	Plagiocephaly, Macrocephaly, Agenesis of corpus callosum	ORPHA:459074
Aicardi Syndrome	Delayed puberty, Plagiocephaly, Microphthalmia, Bifid ribs, Intestinal polyposis, Short philtrum,...	ORPHA:50
Pseudodiastrophic Dysplasia	Brachycephaly, Rhizomelia, Camptodactyly, Frontal bossing, Severe short stature, Smooth philtrum,...	OMIM:264180
Craniofrontonasal Syndrome	Brachycephaly, Hypoplasia of the corpus callosum, Clinodactyly of the 5th finger, Hypospadias, Ab...	OMIM:304110
Ventricular Septal Defect 3	Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus	OMIM:614432
Ethylene Glycol Poisoning	Congestive heart failure, Renal tubular epithelial necrosis, Pulmonary edema, Prolonged QT interv...	ORPHA:31826
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Brachycephaly, Cerebral atrophy, Short philtrum, High palate, Dilated third ventricle, Corpus cal...	OMIM:619244
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Brachycephaly, Craniosynostosis, Thickened calvaria, Macrocephaly	ORPHA:178377
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Gastrointestinal hemorrhage, Genu valgum, Arteriovenous malformation, Subcutaneous hemorrhage, De...	ORPHA:394
Birt-Hogg-Dube Syndrome 1	Renal neoplasm, Renal cell carcinoma, Renal cyst, Spontaneous pneumothorax, Large intestinal poly...	OMIM:135150
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Brachycephaly, Abnormality of the kidney, Delayed eruption of permanent teeth, Short philtrum, Ab...	ORPHA:521445
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomegaly, Congestive heart failure, Cardiomyopathy, 3-Methylglutaconic aciduria	OMIM:619259
Orofaciodigital Syndrome Xi	Postaxial polydactyly, Cleft palate	OMIM:612913
Myotonic Dystrophy 1	Cataract, Cholelithiasis, Hypogonadism, Testicular atrophy	OMIM:160900
Mullegama-Klein-Martinez Syndrome	Polydactyly, Clinodactyly of the 5th finger, Short philtrum, Short stature, Submucous cleft of so...	OMIM:301022
Adams-Oliver Syndrome 5	Patent foramen ovale, Esophageal varix, Pulmonary arterial hypertension, Right atrial enlargement...	OMIM:616028
Hypothyroidism, Congenital, Nongoitrous, 5	Growth delay, Patent foramen ovale, Mitral regurgitation	OMIM:225250
Myoclonic-Astatic Epilepsy	Microphthalmia, Thick lower lip vermilion, Microcephaly, Wide mouth, Syndactyly, Broad philtrum, ...	ORPHA:1942
20Q11.2 Microduplication Syndrome	Limited elbow extension, Tented philtrum, Brachycephaly, Palpebral edema, Deep palmar crease, Cli...	ORPHA:363659
Hereditary Hemorrhagic Telangiectasia	Tongue telangiectasia, Spontaneous hematomas, Gastrointestinal hemorrhage, Intestinal polyposis, ...	ORPHA:774
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Floating-Harbor Syndrome	Mesocardia, Cone-shaped epiphyses of the phalanges of the hand, Dislocated radial head, Microdont...	OMIM:136140
Smooth Muscle Dysfunction Syndrome	Periventricular white matter hyperintensities, Dilatation of the cerebral artery, Vascular dilata...	OMIM:613834
Anterior Segment Dysgenesis 5	Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris	OMIM:604229
Oculo-Palato-Cerebral Syndrome	Microphthalmia, Retinal detachment, Remnants of the hyaloid vascular system, Leukocoria, Cataract	ORPHA:2714
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Cataract, Corneal guttata, Snowflake vitreoretinal degeneration	OMIM:193230
Lethal Congenital Contracture Syndrome 5	Polyhydramnios, Thin ribs, Retinal hemorrhage, Decreased fetal movement, Subdural hemorrhage	OMIM:615368
Cleft-Limb-Heart Malformation Syndrome	Truncus arteriosus, Syndactyly	OMIM:215850
Acropectorovertebral Dysplasia	High, narrow palate, Tarsal synostosis, Triphalangeal thumb, Finger syndactyly, Synostosis of car...	ORPHA:957
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome	Brachycephaly, Macrocephaly, Ulnar deviation of the hand or of fingers of the hand, Calcaneovalgu...	ORPHA:562528
Familial Idiopathic Dilatation Of The Right Atrium	Paroxysmal atrial fibrillation, Peripheral edema, Cardiomegaly, Reduced left ventricular ejection...	ORPHA:1677
Renal Agenesis, Bilateral	Sirenomelia, Non-midline cleft of the upper lip, Abnormal intestine morphology, Tracheoesophageal...	ORPHA:1848
Velocardiofacial Syndrome	Abnormality of the hand, Right aortic arch with mirror image branching, Interrupted aortic arch, ...	OMIM:192430
Prader-Willi Syndrome	Delayed puberty, Radial deviation of finger, Breech presentation, Syndactyly, Decreased fetal mov...	OMIM:176270
Familial Hyperaldosteronism Type I	Caesarian section, Hypertension, Epistaxis, Intracranial hemorrhage	ORPHA:403
Split-Hand/Foot Malformation 4	Aplasia/Hypoplasia of metatarsal bones, Triphalangeal thumb, Aplasia/Hypoplasia of the phalanges ...	OMIM:605289
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency	Brachycephaly	ORPHA:404493
Optic Nerve Hypoplasia, Bilateral	Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system	OMIM:165550
Ring Chromosome 12 Syndrome	High, narrow palate, Abnormal 5th finger morphology, Glandular hypospadias, Symphalangism of the ...	ORPHA:1439
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia, Thick lower lip vermilion, Flat occiput, Lymphedema, Microcephaly, Simplified gyr...	OMIM:152950
Noonan Syndrome 9	Prolonged prothrombin time, Hydroureter, Pulmonic stenosis, Short stature, Coarctation of aorta, ...	OMIM:616559
Hutchinson-Gilford Progeria Syndrome	Congestive heart failure, Premature coronary artery atherosclerosis, Angina pectoris, Precocious ...	OMIM:176670
Garg-Mishra Progeroid Syndrome	Postnatal growth retardation, Secondary microcephaly, Microphthalmia, Slender long bone, Dental c...	OMIM:620601
Short Stature, Developmental Delay, And Congenital Heart Defects	Patent foramen ovale, Proportionate short stature, Patent ductus arteriosus, Atrial septal defect...	OMIM:617044
King-Denborough Syndrome	Breech presentation, High palate, Short stature, Decreased fetal movement, Ventricular septal def...	OMIM:619542
Hypocomplementemic Urticarial Vasculitis	Small vessel vasculitis, Glomerulopathy, Hematuria, Emphysema, Abnormal heart valve morphology, P...	ORPHA:36412
Colchicine Poisoning	Myocarditis, Congestive heart failure, Dehydration, Hypotension, Hypovolemia, Cardiogenic shock, ...	ORPHA:31824
Antley-Bixler Syndrome	Brachycephaly, Turricephaly, Abnormal renal morphology, Femoral bowing, Narrow mouth, Abnormal ri...	ORPHA:83
Loeys-Dietz Syndrome 4	Arterial tortuosity, Aortic tortuosity, Arachnodactyly, Bifid uvula, Mitral valve prolapse, Bicus...	OMIM:614816
Atrial Septal Defect 6	Atrial fibrillation, Atrial septal defect, Bradycardia	OMIM:613087
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Brachycephaly, Plagiocephaly, Macrocephaly, Clinodactyly of the 5th finger, Sandal gap, Frontal b...	OMIM:618430
Anauxetic Dysplasia 3	Plagiocephaly, Hip subluxation, Genu valgum, Broad middle phalanx of finger, Metaphyseal cupping,...	OMIM:618853
Atypical Werner Syndrome	Rocker bottom foot, Delayed puberty, Hypertension, Aortic valve stenosis, Mitral valve prolapse, ...	ORPHA:79474
Pfeiffer Syndrome Type 2	Aqueductal stenosis, Deviation of the thumb, Short hallux, Finger syndactyly, Cloverleaf skull, H...	ORPHA:93259
Senior-Loken Syndrome 9	Polydactyly, Nephronophthisis, Hypoplasia of the femoral head, Stage 5 chronic kidney disease, Tu...	OMIM:616629
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Dental crowding, Internally rotated shoulders, Agenesis of permanent teeth, Wide mouth, Decreased...	OMIM:619503
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Hypoplasia of the corpus callosum, Aganglionic megacolon, Anal stenosis, Dandy-Walker malformatio...	OMIM:614207
Cataract 47	Cataract, Glycosuria, Microcornea	OMIM:612018
Congenital Myopathy 15	Polyhydramnios, Camptodactyly, Tricuspid regurgitation, Decreased fetal movement	OMIM:620161
Bardet-Biedl Syndrome 6	Postaxial polydactyly, Hypospadias, Renal cyst, Syndactyly	OMIM:605231
Constricting Bands, Congenital	Tessier cleft, Ectopia cordis, Abnormal lung lobation, Encephalocele, Cleft upper lip, Hand polyd...	OMIM:217100
Charcot-Marie-Tooth Disease, Type 4B3	Microcephaly, Urinary incontinence, Syndactyly	OMIM:615284
Congenital Disorder Of Glycosylation, Type Ib	Steatorrhea, Protein-losing enteropathy, Lymphangiectasis, Abnormal bleeding, Proximal tubulopath...	OMIM:602579
Morning Glory Disc Anomaly	Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Delayed puberty, Everted lower lip vermilion, Microcephaly, Long philtrum, Short finger, Hypospad...	ORPHA:459070
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities	Hypoplasia of the corpus callosum, Cerebral white matter hypoplasia, Microcephaly, Syndactyly, Pa...	OMIM:619091
Cerebellofaciodental Syndrome	Genu valgum, Clinodactyly of the 5th finger, Thin corpus callosum, Slender long bone, Single tran...	OMIM:616202
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia, Aplasia of the distal phalanx of the 5th toe, Abnormality of canine, Oligodontia,...	ORPHA:364577
Intellectual Developmental Disorder, Autosomal Dominant 74	Brachycephaly, Microcephaly, Smooth philtrum, Intrauterine growth retardation, Thin upper lip ver...	OMIM:620688
Craniodigital-Intellectual Disability Syndrome	Finger syndactyly, Brachycephaly, Spina bifida occulta, Short stature	ORPHA:1514
Turner Syndrome Due To Structural X Chromosome Anomalies	Delayed puberty, Renal hypoplasia/aplasia, Prolonged QT interval, Ectopic kidney, Hypertension, A...	ORPHA:99413
Mosaic Monosomy X	Delayed puberty, Renal hypoplasia/aplasia, Prolonged QT interval, Ectopic kidney, Hypertension, A...	ORPHA:99228
Monosomy X	Delayed puberty, Renal hypoplasia/aplasia, Prolonged QT interval, Ectopic kidney, Hypertension, A...	ORPHA:99226
Turner Syndrome	Delayed puberty, Renal hypoplasia/aplasia, Prolonged QT interval, Ectopic kidney, Hypertension, A...	ORPHA:881
Coloboma, Ocular, Autosomal Recessive	Retinal coloboma, Optic disc coloboma, Cataract, Lens subluxation, Iris coloboma	OMIM:216820
Premature Aging Syndrome, Penttinen Type	Cervical ribs, Thin vermilion border, Microphthalmia, Macrocephaly, Slender long bone, Delayed er...	OMIM:601812
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Atrial septal defect, Pneumonia, Macrocephaly, Prolonged QT interval, Patent foramen ovale, Ventr...	ORPHA:26793
Vascular Hyalinosis	Protein-losing enteropathy, Vascular dilatation, Cerebral calcification, Hematochezia, Subarachno...	OMIM:277175
Congenital Primary Aphakia	Microphthalmia, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenita...	ORPHA:83461
Collagenoma, Familial Cutaneous	Congestive heart failure, Right ventricular cardiomyopathy, Atrial fibrillation, Vasculitis, Card...	OMIM:115250
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Tessier cleft, Microphthalmia, Pectoral muscle hypoplasia/aplasia, Hypoplasia of the frontal bone...	ORPHA:306542
Cardiofacioneurodevelopmental Syndrome	Atrioventricular canal defect, Clinodactyly of the 5th finger, Cerebellar vermis hypoplasia, Camp...	OMIM:619123
Retinitis Pigmentosa 89	Bicuspid aortic valve, Esophageal varix, Postaxial polydactyly	OMIM:618955
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities	Brachycephaly, Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Downturned corners o...	OMIM:618859
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Corneal neovascularization, Hypertension, Microcephaly, Umbilical hernia, Ventriculomegaly, Oligo...	OMIM:308205
Sclerosteosis	Diaphyseal undertubulation, Craniofacial hyperostosis, Finger syndactyly, 2-3 finger syndactyly, ...	ORPHA:3152
Chand Syndrome	Hydroureter, Atelectasis, Agenesis of maxillary incisor, Short fifth metatarsal, Abnormal oral fr...	ORPHA:1401
Chromosome 8Q21.11 Deletion Syndrome	Hypoplasia of the corpus callosum, Microphthalmia, Short philtrum, Exaggerated cupid's bow, High ...	OMIM:614230
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Aganglionic megacolon, Ventricular septal defect, Polysyndactyly of hallux, Preaxial foot polydac...	OMIM:235750
Tuberous Sclerosis 2	Wolff-Parkinson-White syndrome, Absence of renal corticomedullary differentiation, Cardiac rhabdo...	OMIM:613254
X-Linked Intellectual Disability Due To Gria3 Mutations	Narrow palate, Brachycephaly, Hypoplasia of the corpus callosum, Macrocephaly, Short philtrum, Ce...	ORPHA:364028
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Hydrops fetalis	ORPHA:766
Vulto-Van Silfhout-De Vries Syndrome	Brachycephaly, 2-3 toe cutaneous syndactyly, Thick lower lip vermilion, Prominent fingertip pads,...	OMIM:615828
Atransferrinemia	Congestive heart failure	OMIM:209300
Peroxisomal Acyl-Coa Oxidase Deficiency	Brachycephaly, Frontal bossing	OMIM:264470
C Syndrome	Bilateral single transverse palmar creases, Renal hypoplasia/aplasia, Dislocated radial head, Tri...	ORPHA:1308
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction	Clinodactyly of the 5th finger, Short hallux, Finger syndactyly, Metacarpal synostosis, 2-3 toe s...	ORPHA:157801
Frontometaphyseal Dysplasia 2	Delayed puberty, Dislocated radial head, Short metacarpal, Pulmonic stenosis, Broad thumb, Bifid ...	OMIM:617137
Cardiomyopathy, Dilated, 2H	Secundum atrial septal defect, Muscular ventricular septal defect, Neonatal death, Reduced left v...	OMIM:620203
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Breech presentation, Chylothorax, High palate, Cerebral hemorrhage, Decreased fetal movement, Sub...	OMIM:620278
Acrofacial Dysostosis, Cincinnati Type	Pulmonary artery aneurysm, Cleft anterior mitral valve leaflet, Femoral bowing, Microcephaly, Med...	OMIM:616462
Joubert Syndrome 35	Cerebellar vermis hypoplasia, Recurrent urinary tract infections, Single transverse palmar crease...	OMIM:618161
Wiedemann-Rautenstrauch Syndrome	Short humerus, Long philtrum, Intrauterine growth retardation, Long toe, Clinodactyly, Genu varum...	OMIM:264090
Ciliary Dyskinesia, Primary, 53	Situs inversus totalis, Perimembranous ventricular septal defect, Cerebellar vermis hypoplasia, P...	OMIM:620642
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Polydactyly, High palate, Aspiration pneumonia, Abnormal heart morphology, Recurrent pneumonia, T...	ORPHA:314655
Intellectual Developmental Disorder, X-Linked 1	Brachycephaly, Secondary microcephaly	OMIM:309530
Cerebral Amyloid Angiopathy, App-Related	Cerebellar hemorrhage, Stroke, Tortuous cerebral arteries, Cerebral ischemia, Recurrent cerebral ...	OMIM:605714
Feingold Syndrome 1	Prominent occiput, Everted lower lip vermilion, Tracheoesophageal fistula, Microcephaly, Decrease...	OMIM:164280
Pelvis-Shoulder Dysplasia	Microphthalmia, Clinodactyly of the 5th finger, Spina bifida occulta, Hypoplastic acetabulae, Sho...	OMIM:169550
19P13.13 Microdeletion Syndrome	Brachycephaly, Macrocephaly, Sandal gap, Optic nerve hypoplasia, High palate, Narrow mouth, Hypop...	ORPHA:357001
Woods Syndrome	Limited elbow extension, Thin vermilion border, Single transverse palmar crease, 3-4 finger cutan...	OMIM:615236
Noonan Syndrome 1	Radial deviation of finger, Pulmonic stenosis, Clinodactyly, Abnormal bleeding, Hypospadias, Shor...	OMIM:163950
Spondyloarthropathy, Susceptibility To, 1	Inflammation of the large intestine, Sacroiliac arthritis, Aortic regurgitation, Arrhythmia	OMIM:106300
Goldberg-Shprintzen Megacolon Syndrome	Hypoplasia of the corpus callosum, Aganglionic megacolon, Hypospadias, Finger syndactyly, Short s...	ORPHA:66629
Phace Syndrome	Abnormal carotid artery morphology, Microphthalmia, Aortic root aneurysm, Optic nerve hypoplasia,...	ORPHA:42775
Coffin-Siris Syndrome 12	Microcephaly, Broad thumb, Noncommunicating hydrocephalus, Heart murmur, Hypospadias, Patent fora...	OMIM:619325
Crouzon Syndrome With Acanthosis Nigricans	Brachycephaly, Craniosynostosis, Hydrocephalus	OMIM:612247
Meier-Gorlin Syndrome 1	Breech presentation, Short ribs, Microdontia, Microcephaly, Intrauterine growth retardation, Coxa...	OMIM:224690
Chromosome 17Q12 Deletion Syndrome	Ovarian cyst, Urethral stenosis, Long toe, Stage 5 chronic kidney disease, Abnormal upper lip mor...	OMIM:614527
Mogs-Cdg	Hypoplasia of the corpus callosum, Pulmonary edema, Polyhydramnios, Prominent occiput, High palat...	ORPHA:79330
Chronic Thromboembolic Pulmonary Hypertension	Congestive heart failure, Increased pulmonary vascular resistance, Right bundle branch block, Pul...	ORPHA:70591
Proteasome-Associated Autoinflammatory Syndrome 1	Congestive heart failure, Thick lower lip vermilion, Flexion contracture of toe, Clubbing of fing...	OMIM:256040
X-Linked Intellectual Disability, Armfield Type	Limited elbow extension, Brachycephaly, Macrocephaly, Galactosuria, Short philtrum, Abnormal card...	ORPHA:85276
Hartsfield Syndrome	Semilobar holoprosencephaly, Hypospadias, Alobar holoprosencephaly, Hypoplasia of the frontal bon...	OMIM:615465
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Sandal gap, Optic nerve hypoplasia, Microcephaly, Bifid uvula, Umbilical hernia, Long philtrum, C...	OMIM:620330
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Renal salt wasting, Polyuria, Hydrops fetalis, Polyhydramnios, Decreased glomerular filtration ra...	OMIM:602522
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Occipital encephalocele, Cerebellar hypoplasia, Anencephaly, Hydromyelia, 11 pairs of ribs, Hydro...	OMIM:615287
8P11.2 Deletion Syndrome	Hypoplasia of penis, High palate, Short stature, Growth delay, Microcephaly, Supernumerary ribs, ...	ORPHA:251066
Larsen-Like Syndrome	Brachycephaly, Macrocephaly, Clinodactyly of the 5th finger, Radial deviation of the 4th finger, ...	OMIM:608545
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Epispadias, Long philtrum, Flat occiput, Brachycephaly, Abnormal cortical gyration, Hypospadias, ...	ORPHA:2211
Aica-Ribosiduria Due To Atic Deficiency	Brachycephaly, Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level, Frontal bossing, S...	OMIM:608688
Skin Creases, Congenital Symmetric Circumferential, 1	Brachycephaly, Hypoplasia of the corpus callosum, Microphthalmia, Dandy-Walker malformation, High...	OMIM:156610
Phace Association	Microphthalmia, Vascular dilatation, Aortic aneurysm, Optic nerve hypoplasia, Dandy-Walker malfor...	OMIM:606519
Joubert Syndrome 23	Polydactyly, Dysplastic corpus callosum	OMIM:616490
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Hypertension, Epistaxis, Increased urinary potassium, Intracranial hemorrhage, Palpitations, Abno...	ORPHA:231625
Lethal Congenital Contracture Syndrome 9	Short umbilical cord, Polyhydramnios, Wrist flexion contracture, Ulnar deviation of the hand, Pul...	OMIM:616503
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Congestive heart failure, Pulmonary edema, Hyperprostaglandinuria, Hypercalciuria, Abnormal renal...	ORPHA:73224
Rodrigues Blindness	Short stature, Microphthalmia	OMIM:268320
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Broad distal phalanx of finger, Clinodactyly of the 5th finger, Cleft hard palate, Polyhydramnios...	OMIM:300990
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Decreased fertility, Testicular atrophy	OMIM:313200
Congenital Anomalies Of Kidney And Urinary Tract 3	Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl...	OMIM:618270
Tibial Hemimelia	Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Absent tibia, My...	ORPHA:93322
Oculocerebrofacial Syndrome, Kaufman Type	Brachycephaly, Thin vermilion border, High, narrow palate, Short philtrum, Microdontia, Growth de...	ORPHA:2707
8Q21.11 Microdeletion Syndrome	Microphthalmia, Abnormal metacarpal morphology, Short philtrum, Hypoplasia of penis, Finger synda...	ORPHA:284160
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Brachycephaly, Occipital encephalocele, Oligodactyly, Humeroradial synostosis, Arachnodactyly, Cr...	OMIM:614416
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Hypospadias, Clubbing, Split hand, Growth delay, Cleft upper lip, Coarctation of aorta, Cleft pal...	OMIM:600460
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Polycystic kidney dysplasia, Intrauterine growth retardation, Renal cyst, Portal hypertension, Sa...	OMIM:610199
Aortic Valve Disease 3	Aortic root aneurysm, Aortic valve stenosis, Ascending aortic dissection, Bicuspid aortic valve, ...	OMIM:618496
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Macrocephaly, High palate, Short stature, Bifid uvula, Recurrent aspiration pneumonia, Recurrent ...	OMIM:300472
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Arachnodactyly, Abnormal heart morphology, Emphysema, Hip dislocation	OMIM:614100
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Bronchiecta...	OMIM:619705
Saethre-Chotzen Syndrome	Parietal foramina, Abnormal heart morphology, Partial duplication of the distal phalanx of the 3r...	OMIM:101400
Schinzel-Giedion Midface Retraction Syndrome	Tibial bowing, Ureteral stenosis, Short distal phalanx of finger, Ventriculomegaly, Increased den...	OMIM:269150
Lig4 Syndrome	Brachycephaly, Thin vermilion border, Clinodactyly of the 5th finger, Hypoplasia of penis, Bipari...	ORPHA:99812
Aspartylglucosaminuria	Brachycephaly, Cerebral atrophy, Thick lower lip vermilion, Recurrent respiratory infections, Sho...	OMIM:208400
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Widely spaced teeth, Microcephaly, Arachnodactyly, Syndactyly, Clinodactyly	OMIM:619092
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Plagiocephaly, Clinodactyly of the 5th finger, Abnormal dental enamel morphology, Postaxial hand ...	ORPHA:2916
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Microphthalmia, Decreased pineal volume, Focal segmental glomerulosclerosis, Nephrotic syndrome, ...	OMIM:301108
Frontorhiny	Microphthalmia, Encephalocele, Camptodactyly of finger, Cleft palate, Basal encephalocele, Brachy...	ORPHA:391474
Metaphyseal Chondrodysplasia, Jansen Type	Brachycephaly, Clinodactyly of the 5th finger, Clubbing of fingers, Hypercalciuria, Metaphyseal c...	OMIM:156400
Congenital Disorder Of Glycosylation, Type Iit	Brachycephaly, Urinary incontinence, Short philtrum, Sandal gap, Short stature, Microcephaly, Ten...	OMIM:618885
Treacher-Collins Syndrome	Microphthalmia, Hypoplasia of penis, Glossoptosis, Tracheoesophageal fistula, Tooth agenesis, Wid...	ORPHA:861
Tetraamelia Syndrome 2	Bilateral lung agenesis, Hypoplastic pulmonary veins, Glossoptosis, Ankyloglossia, Cleft palate, ...	OMIM:618021
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Macrocephaly, High palate, Short stature, Cleft palate, Agenesis of corpus callosum, Patent ductu...	ORPHA:52055
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome	Hypoplasia of the corpus callosum, Plagiocephaly, Ventriculomegaly, Polyhydramnios	ORPHA:521390
Trichorhinophalangeal Syndrome, Type Ii	Cone-shaped epiphyses of the phalanges of the hand, Short metacarpal, Microcephaly, 2-4 toe synda...	OMIM:150230
Familial Hyperaldosteronism Type Ii	Hypertension, Epistaxis, Intracranial hemorrhage	ORPHA:404
Alagille Syndrome 1	Hypoplasia of the ulna, Atrial septal defect, Duplicated collecting system, Renal tubular acidosi...	OMIM:118450
Craniosynostosis, Philadelphia Type	Finger syndactyly, Craniosynostosis	ORPHA:1527
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Prolonged prothrombin time, Microcephaly, Neonatal death, Intrauterine growth retardation, Intrav...	OMIM:619055
Duane Retraction Syndrome	Hypoplasia of the radius, Plagiocephaly, Triphalangeal thumb, Ectopic kidney, Talipes equinovarus...	ORPHA:233
Riddle Syndrome	Abnormal pulmonary interstitial morphology, Bronchitis, Enuresis nocturna, Conjunctival telangiec...	ORPHA:420741
Sporadic Fetal Brain Disruption Sequence	Microcephaly, Plagiocephaly, Cerebral cortical atrophy, Prominent occiput	ORPHA:1665
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Periventricular white matter hyperintensities, Plagiocephaly, Turricephaly, Clinodactyly of the 5...	OMIM:620224
Acrofacial Dysostosis, Rodríguez Type	Aqueductal stenosis, Fibular hypoplasia, Renal hypoplasia/aplasia, Finger syndactyly, Abnormal pe...	ORPHA:1788
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Dextrocardia, Homocystinuria, Cystathioninuria, Stomatitis, Glossitis, High palate, Tracheoesopha...	OMIM:277380
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Dietary Iron Overload Disease	Esophageal carcinoma, Congestive heart failure, Abnormal heart morphology	ORPHA:139507
Faciocardiorenal Syndrome	Plagiocephaly, Tricuspid valve prolapse, Narrow mouth, Cleft palate, Smooth philtrum, Hypodontia,...	ORPHA:1973
Pontocerebellar Hypoplasia, Type 8	Hypoplasia of the corpus callosum, Secondary microcephaly, Patent foramen ovale, Reduced cerebral...	OMIM:614961
Heterotaxy, Visceral, 7, Autosomal	Hypoplasia of right ventricle, Situs inversus totalis, Transposition of the great arteries, Abnor...	OMIM:616749
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla...	OMIM:228930
Pontocerebellar Hypoplasia, Type 17	Cerebellar vermis hypoplasia, Cerebellar hemisphere hypoplasia, Hypoplasia of the pons, Secundum ...	OMIM:619909
Oculoauricular Syndrome	Microphakia, Ocular anterior segment dysgenesis, Microphthalmia, Iris cyst, Retinal detachment, M...	OMIM:612109
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Bilateral single transverse palmar creases, Atrioventricular canal defect, Clinodactyly of the 5t...	ORPHA:3047
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Hypoplastic iliac wing, Tibial bowing, Microdontia, Microcephaly, Short distal phalanx of finger,...	OMIM:210720
Dysosteosclerosis	Abnormal metaphysis morphology, Macrocephaly, Craniofacial hyperostosis, Delayed eruption of teet...	ORPHA:1782
Pheochromocytoma	Congestive heart failure, Episodic hypertension, Renal artery stenosis, Elevated urinary norepine...	OMIM:171300
Dihydropyrimidinase Deficiency	Plagiocephaly, Uraciluria, Elevated urinary dihydrothymine level, Elevated urinary dihydrouracil ...	OMIM:222748
Distal Deletion 6P	Orofacial cleft, Clinodactyly of the 5th finger, Short philtrum, Abnormality of the dentition, Hy...	ORPHA:96125
X-Linked Intellectual Disability, Wilson Type	Brachycephaly, Growth delay, Microcephaly, Wide mouth, Thick vermilion border, Lateral ventricle ...	ORPHA:85290
Congenital Disorder Of Glycosylation, Type Iiaa	Persistent patent ductus venosus, Unilateral renal agenesis, Short long bone, Bilateral talipes e...	OMIM:620454
Melnick-Needles Syndrome	Cone-shaped epiphyses of the phalanges of the hand, Tibial bowing, Ureteral stenosis, Short humer...	OMIM:309350
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Delayed puberty, Calcification of the aorta, Brachycephaly, Hypoplasia of the corpus callosum, Ab...	ORPHA:2072
Acrootoocular Syndrome	Short finger, Grayish enamel, Supernumerary tooth, High, narrow palate, Sandal gap, Delayed erupt...	ORPHA:2980
Bardet-Biedl Syndrome	Hypoplasia of penis, Dental crowding, Hypertension, Cardiomyopathy, Microdontia, Abnormal heart m...	ORPHA:110
Bronchial Neuroendocrine Tumor	Abnormal pulmonary interstitial morphology, Hypotension, Tricuspid regurgitation, Facial telangie...	ORPHA:97287
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Hypospadias, Abnormal metacarpal morphology, Short hallux, Finger syndactyly, Abnormal corpus cal...	ORPHA:3224
Chromosome Xp11.3 Deletion Syndrome	Optic atrophy, Posterior subcapsular cataract, Cataract, Cryptorchidism, Pigmentary retinopathy	OMIM:300578
Blepharocheilodontic Syndrome 1	Neural tube defect, Conical tooth, Anal atresia, Cleft upper lip, Hypodontia, Cutaneous syndactyl...	OMIM:119580
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Narrow palate, Contracture of the proximal interphalangeal joint of the 4th finger, Brachycephaly...	OMIM:618223
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Peripheral pulmonary artery stenosis, Ventricular septal defect, Tetralogy of Fallot	OMIM:617992
Developmental And Epileptic Encephalopathy 65	Cerebral atrophy, Plagiocephaly, Microcephaly, Tented upper lip vermilion, Ventriculomegaly	OMIM:618008
Erythrocytosis, Familial, 1	Hypertension, Cerebral hemorrhage, Myocardial infarction	OMIM:133100
Cockayne Syndrome	Delayed puberty, Microphthalmia, Urinary incontinence, Cerebral dysmyelination, Progressive micro...	ORPHA:191
Telangiectasia, Hereditary Hemorrhagic, Type 2	Tongue telangiectasia, Hematemesis, Nail bed telangiectasia, Spontaneous, recurrent epistaxis, Na...	OMIM:600376
Donnai-Barrow Syndrome	Macrocephaly, Intestinal malrotation, Proteinuria, Umbilical hernia, Aplasia/Hypoplasia of the co...	ORPHA:2143
Aarskog-Scott Syndrome	Delayed puberty, Radial deviation of finger, Hypodontia, Hyperextensibility of the finger joints,...	OMIM:305400
Laurence-Moon Syndrome	Polydactyly, Abnormality of the hand, Micropenis, Short stature	OMIM:245800
Polycythemia Vera	Gastrointestinal hemorrhage, Budd-Chiari syndrome, Cerebral hemorrhage, Cerebral ischemia	OMIM:263300
Oculoectodermal Syndrome	Macrocephaly, Patent ductus arteriosus, Lymphedema, Transient ischemic attack, Hypertrophic cardi...	OMIM:600268
Ectrodactyly-Polydactyly Syndrome	Abnormal metacarpal morphology, Finger syndactyly, Postaxial hand polydactyly, Ectrodactyly, Camp...	ORPHA:1892
Holoprosencephaly 2	Semilobar holoprosencephaly, Microphthalmia, Solitary median maxillary central incisor, Proboscis...	OMIM:157170
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Renal salt wasting, Increased urinary 11-deoxycorticosterone level, Long penis, Hypertension, Sho...	ORPHA:90795
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urinary incontinence, Microcephaly, Intrauterine growth retardation, Short 5th finger, Short fing...	OMIM:619522
White-Sutton Syndrome	Brachycephaly, Hypoplasia of the corpus callosum, Short philtrum, Duplicated collecting system, S...	ORPHA:468678
Dysostosis, Stanescu Type	Abnormal metaphysis morphology, Abnormal palate morphology, Brachycephaly, Abnormal dental enamel...	ORPHA:1798
Cebalid Syndrome	Brachycephaly, Plagiocephaly, Turricephaly, Polymicrogyria, High palate, Platystencephaly, Dolich...	OMIM:618774
Spondylospinal Thoracic Dysostosis	Pulmonary hypoplasia	OMIM:601809
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Brachycephaly, Plagiocephaly, Cerebral atrophy, Polyhydramnios, Short philtrum, Dental crowding, ...	OMIM:617296
Renal Dysplasia	Enlarged kidney, Urinary incontinence, Renal hypoplasia/aplasia, Abnormal nephron morphology, Hyp...	ORPHA:93108
Formiminoglutamic Aciduria	Atrial septal defect, Abnormal concentration of acylcarnitine in the urine	ORPHA:51208
Cutis Laxa, Autosomal Recessive, Type Iiia	Brachycephaly, Narrow mouth, Congenital hip dislocation, Short stature, Frontal bossing, Umbilica...	OMIM:219150
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Yuan-Harel-Lupski Syndrome	Long philtrum, Clinodactyly of the 5th finger, Sandal gap, Aortic root aneurysm, High palate, Smo...	OMIM:616652
Ehlers-Danlos Syndrome, Vascular Type	Repeated pneumothoraces, Descending aortic dissection, Mitral valve prolapse, Cystocele, Diffuse ...	OMIM:130050
Dubowitz Syndrome	Postnatal growth retardation, Microphthalmia, Clinodactyly of the 5th finger, Hypospadias, Delaye...	OMIM:223370
Hypermethioninemia Due To Adenosine Kinase Deficiency	Cerebral atrophy, Prolonged prothrombin time, Macrocephaly, Pulmonic stenosis, Frontal bossing, C...	OMIM:614300
Listeriosis	Myocarditis, Congestive heart failure, Acute kidney injury, Arteritis, Stroke, Pericarditis, Prem...	ORPHA:533
Skin Creases, Congenital Symmetric Circumferential, 2	Hypoplasia of the corpus callosum, Microphthalmia, Clinodactyly of the 5th finger, Hypospadias, 2...	OMIM:616734
Senior-Loken Syndrome 8	Polydactyly, Nephronophthisis, Vascular dilatation, Glomerular subepithelial immune-complex depos...	OMIM:616307
Mosaic Trisomy 20	Abnormality of the kidney, Abnormal mitral valve morphology, Clinodactyly, Limited pronation/supi...	ORPHA:1724
Kbg Syndrome	Epispadias, Brachycephaly, Radial deviation of finger, Clinodactyly of the 5th finger, Single tra...	OMIM:148050
Erythrocytosis, Familial, 2	Stroke, Hypotension, Pulmonary arterial hypertension, Cerebral hemorrhage, Varicose veins	OMIM:263400
Developmental And Epileptic Encephalopathy 102	Microcephaly, Situs inversus totalis, Atrial septal defect	OMIM:619881
Ohdo Syndrome, X-Linked	Thin vermilion border, Microphthalmia, Widely spaced teeth, High palate, Narrow mouth, Microdonti...	OMIM:300895
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Rocker bottom foot, Hypoplasia of the corpus callosum, Abnormal cortical gyration, Single transve...	OMIM:617527
Congenital Tricuspid Stenosis	Congestive heart failure, Hypotension, Tricuspid stenosis, Pulmonary arterial hypertension, Tricu...	ORPHA:95459
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Hypoplasia of the corpus callosum, Abnormal palate morphology, Abnormality of canine, Widely spac...	ORPHA:477993
Marbach-Schaaf Neurodevelopmental Syndrome	Plagiocephaly, Enuresis nocturna, Microcephaly, Downturned corners of mouth, Brachydactyly, Submu...	OMIM:619680
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Ileal atresia, Intestinal obstruction, Polyhydramnios, Rectal atresia, Recurrent respiratory infe...	OMIM:243150
Congenital Tracheal Stenosis	Meckel diverticulum, Tracheoesophageal fistula, Oligohydramnios, Abnormality of the kidney, Anoma...	ORPHA:141127
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Premature ovarian insufficiency, Hypoparathyroidism, Cholelithiasis, Keratoconjunctivitis, Female...	OMIM:240300
Telangiectasia, Hereditary Hemorrhagic, Type 4	Tongue telangiectasia, Ischemic stroke, Spinal arteriovenous malformation, Right-to-left shunt, L...	OMIM:610655
Monosomy 13Q14	Hypoplasia of the corpus callosum, Microphthalmia, Clinodactyly of the 5th finger, Aplasia/Hypopl...	ORPHA:1587
Cerebrofaciothoracic Dysplasia	Brachycephaly, Hypoplasia of the corpus callosum, Macrocephaly, Polyhydramnios, Bifid ribs, Cereb...	ORPHA:1394
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Palpebral edema, Predominantly lower limb lymphedema, Abnormality of the dentition, Nonimmune hyd...	OMIM:607823
Gabriele-De Vries Syndrome	Hypoplasia of the corpus callosum, Thick lower lip vermilion, Esophageal atresia, Sandal gap, Ven...	ORPHA:506358
Congenital Diaphragmatic Hernia	Intestinal malrotation, Pulmonary hypoplasia	ORPHA:2140
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Narrow greater sciatic notch, Microphthalmia, Rhizomelia, Flared metaphysis, Short long bone, Met...	ORPHA:85167
Sotos Syndrome	Ureteral duplication, Agenesis of permanent teeth, Abnormal heart morphology, Congenital posterio...	ORPHA:821
Split-Hand/Foot Malformation 6	Finger syndactyly, Split hand, Finger aplasia, Split foot, Foot oligodactyly, Toe syndactyly	OMIM:225300
Drug-Induced Autoimmune Hemolytic Anemia	Tachycardia, Congestive heart failure, Abnormal urinary color	ORPHA:90037
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Delayed puberty, Atrial septal defect, Cerebral atrophy, Hypoplasia of the corpus callosum, Hypos...	OMIM:618891
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures	Plagiocephaly, Thin corpus callosum, Macrocephaly, Short philtrum, Cerebellar vermis hypoplasia, ...	OMIM:620455
Atrial Septal Defect, Coronary Sinus Type	Presyncope, Pneumonia, Increased pulmonary vascular resistance, Supraventricular arrhythmia, Stro...	ORPHA:99104
Alzahrani-Kuwahara Syndrome	Hypospadias, Cavum septum pellucidum, Hypodontia, Narrow philtrum, Patent foramen ovale, Coronary...	OMIM:619268
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Narrow greater sciatic notch, Short finger, Microphthalmia, Postnatal growth retardation, Rhizome...	OMIM:608940
Acropectoral Syndrome	Preaxial polydactyly, Triphalangeal thumb, Partial duplication of thumb phalanx	OMIM:605967
15q26 overgrowth syndrome	Abnormality of the kidney, Macrocephaly, Craniosynostosis, Polycystic kidney dysplasia, Abnormal ...	DECIPHER:81
Friedreich Ataxia	Congestive heart failure, Abnormal EKG, Hypertrophic cardiomyopathy	OMIM:229300
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Postnatal growth retardation, Plagiocephaly, Abnormally large globe, Optic nerve hypoplasia, Prog...	OMIM:300749
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Microcephaly, Atrial septal defect	OMIM:615160
Hereditary Acrokeratotic Poikiloderma	Turricephaly, Abnormal hip bone morphology, Abnormality of the urethra, Abnormal metacarpal morph...	ORPHA:2907
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities	Brachycephaly, Thin corpus callosum, Progressive microcephaly, Microcephaly, Cerebral cortical at...	OMIM:620240
Superficial Siderosis	Abnormal bleeding, Arteriovenous malformation, Enlarged sylvian cistern, Abnormal vertebral arter...	ORPHA:247245
Chromosome 16P13.3 Duplication Syndrome	Rocker bottom foot, Proximal placement of thumb, Sandal gap, Microdontia, Bifid uvula, Wide mouth...	OMIM:613458
Lissencephaly 9 With Complex Brainstem Malformation	Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Cerebellar hemisphere hypoplasia...	OMIM:618325
Hyperinsulinemic Hypoglycemia, Familial, 8	Growth delay, Atrial septal defect, Short stature	OMIM:620211
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Hypoplasia of the corpus callosum, Microphthalmia, Macrocephaly, Hydrocephalus, Cerebral calcific...	OMIM:616538
Developmental And Epileptic Encephalopathy 110	Hypoplasia of the corpus callosum, Posterior plagiocephaly, High palate, Microcephaly, Tented upp...	OMIM:620149
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Atrial fibrillation, Pulmonary artery atresia, Secundum atrial septal defect, Tetralogy of Fallot...	OMIM:108900
Dominant Beta-Thalassemia	Delayed puberty, Genu valgum, Bowing of the long bones, Abnormality of the dentition, Growth dela...	ORPHA:231226
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Polycystic kidney dysplasia, Hypertension, Hepatic cysts, Dilatation of the cerebral artery	OMIM:600666
Intellectual Developmental Disorder, Autosomal Recessive 38	Narrow palate, Plagiocephaly, Sandal gap	OMIM:615516
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Clinodactyly of the 5th finger, Biparietal narrowing, Tricuspid regurgitation, Thick vermilion bo...	ORPHA:228396
Semilobar Holoprosencephaly	Macrocephaly, Solitary median maxillary central incisor, Proboscis, Neural tube defect, Hydroceph...	ORPHA:220386
Alobar Holoprosencephaly	Macrocephaly, Solitary median maxillary central incisor, Proboscis, Neural tube defect, Hydroceph...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Macrocephaly, Solitary median maxillary central incisor, Proboscis, Neural tube defect, Hydroceph...	ORPHA:93926
Lobar Holoprosencephaly	Macrocephaly, Solitary median maxillary central incisor, Proboscis, Neural tube defect, Hydroceph...	ORPHA:93924
Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures	Dental crowding, Frontal bossing, Fetal distress, Plagiocephaly	OMIM:619264
X-Linked Intellectual Disability, Sutherland-Haan Type	Short stature, Brachycephaly, Microcephaly, Anal atresia	ORPHA:93950
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Hypoplasia of the corpus callosum, Plagiocephaly, Secondary microcephaly, Urinary incontinence, W...	ORPHA:496641
Aniridia 1	Corneal neovascularization, Macular agenesis, Aniridia, Corneal erosion, Optic nerve hypoplasia, ...	OMIM:106210
Crane-Heise Syndrome	Aplasia/Hypoplasia of the corpus callosum, Hypoplasia of penis, Finger syndactyly, Intrauterine g...	ORPHA:1512
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Fanconi Renotubular Syndrome 5	Genu valgum, Emphysema, Tubulointerstitial fibrosis, Hypertension, Glycosuria, Lung adenocarcinom...	OMIM:618913
Lig4 Syndrome	Brachycephaly, Clinodactyly of the 5th finger, Microcephaly, Recurrent respiratory infections, Mi...	OMIM:606593
Gomez-Lopez-Hernandez Syndrome	Brachycephaly, Thin vermilion border, Turricephaly, Cerebellar vermis hypoplasia, High palate, Sh...	OMIM:601853
Craniosynostosis 2	Brachycephaly, Supernumerary tooth, Turricephaly, Triphalangeal thumb, Cleft soft palate, Unicoro...	OMIM:604757
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Breech presentation, Postaxial polydactyly, Proximal renal tubular acidosis, Intrauterine growth ...	OMIM:615824
Bartsocas-Papas Syndrome	Renal hypoplasia/aplasia, Finger syndactyly, Narrow mouth, Microcephaly, Aplasia/Hypoplasia of th...	ORPHA:1234
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Ulnar deviation of the 3rd finger, Abnormality of the hand, Delayed puberty, Brachycephaly, Secon...	ORPHA:456312
Magel2-Related Prader-Willi-Like Syndrome	Decreased fetal movement, Recurrent respiratory infections, Short stature, Thin upper lip vermili...	ORPHA:398069
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Tapered finger, Scapular winging, Renal cyst, Carious teeth, Clinodactyly, Dental malocclusion, D...	OMIM:615560
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Patent foramen ovale, Hypertension, Ventricular septal defect, Nephrolithiasis, Pulmonary arteria...	OMIM:615474
Von Hippel-Lindau Disease	Myocarditis, Elevated urinary catecholamine level, Stroke, Hypertension, Cardiomyopathy, Renal ce...	ORPHA:892
Graves Disease	Congestive heart failure	OMIM:275000
Generalized Pustular Psoriasis	Congestive heart failure, Cheilitis, Geographic tongue, Renal insufficiency, Pedal edema	ORPHA:247353
Proximal Spinal Muscular Atrophy	Distal upper limb muscle weakness, Bradycardia, Elbow flexion contracture, Triceps weakness, Recu...	ORPHA:70
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Turricephaly, Clinodactyly of the 5th finger, Finger syndactyly, Abnormal dental enamel morpholog...	ORPHA:1005
Trisomy 9P	Bilateral single transverse palmar creases, Brachycephaly, Clinodactyly of the 5th finger, Dental...	ORPHA:236
Momo Syndrome	Brachycephaly, Thick lower lip vermilion, Macrocephaly, Delayed eruption of teeth, High palate, S...	OMIM:157980
Cornelia De Lange Syndrome 6	Hypoplasia of the corpus callosum, Atrioventricular canal defect, Clinodactyly of the 5th finger,...	OMIM:620568
Phosphoribosylaminoimidazole Carboxylase Deficiency	Brachycephaly, Polyhydramnios, Clinodactyly of the 5th finger, Esophageal atresia, Tracheoesophag...	OMIM:619859
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Postnatal growth retardation, Plagiocephaly, Chalazion, Patent ductus arteriosus, Pulmonary arter...	OMIM:613355
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Narrow palate, Abnormal hip bone morphology, Abnormal calvaria morphology, Finger syndactyly, Nar...	ORPHA:1323
Cogan Syndrome	Vasculitis, Large vessel vasculitis, Aortic regurgitation	ORPHA:1467
Trichothiodystrophy 3, Photosensitive	Microphthalmia, Meckel diverticulum, Eclabion, Carious teeth, Pyloric stenosis, Natal tooth, Shor...	OMIM:616395
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Polydactyly, Short long bone, Short stature, Brachydactyly, Hepatic cysts, Stage 5 chronic kidney...	OMIM:613819
Carney Complex, Type 1	Congestive heart failure, Palatine myxoma, Cardiac myxoma	OMIM:160980
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Bilateral single transverse palmar creases, Tessier cleft, Microphthalmia, Abnormal palate morpho...	ORPHA:1236
6Q Terminal Deletion Syndrome	Hypoplasia of the corpus callosum, Plagiocephaly, High, narrow palate, Macrocephaly, Hypospadias,...	ORPHA:75857
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Breech presentation, Bradycardia, Hypertension, High palate, Retinal hemorrhage, Growth delay, Ha...	OMIM:614653
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Tarsal synostosis, Elbow flexion contracture, Camptodactyly, Short stature, Cutaneous finger synd...	OMIM:178110
Acquired Idiopathic Sideroblastic Anemia	Congestive heart failure, Abnormal bleeding	ORPHA:75564
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Sinus bradycardia, Peripheral arterial stenosis, Patent ductus arteriosus, Varicose veins, Ventri...	OMIM:126320
Aniridia 3	Cataract, Aniridia	OMIM:617142
Alport Syndrome 2, Autosomal Recessive	Hematuria, Corneal erosion, Renal insufficiency, Nephrotic syndrome, Nephritis, Proteinuria, Cata...	OMIM:203780
Anemia, Congenital Dyserythropoietic, Type Ia	Mild postnatal growth retardation, Hydrops fetalis, Syndactyly	OMIM:224120
Otodental Syndrome	Microphthalmia, Agenesis of premolar, Abnormality of canine, Delayed eruption of teeth, Periodont...	ORPHA:2791
Orofaciodigital Syndrome Type 10	Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Cleft soft pa...	ORPHA:2756
Nasopalpebral Lipoma-Coloboma Syndrome	Bilateral microphthalmos, Microphthalmia, Clinodactyly of the 5th finger, Severe postnatal growth...	ORPHA:2399
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Trigonocephaly, Microcephaly, Wide mouth, Long philtrum, Craniosynostosis, Overlapping toe, Ventr...	OMIM:309590
Eem Syndrome	Widely spaced teeth, Finger syndactyly, Selective tooth agenesis, Ectrodactyly, Microdontia, Abno...	ORPHA:1897
Norrie Disease	Optic atrophy, Delayed puberty, Microphthalmia, Erectile dysfunction, Aplasia/Hypoplasia of the l...	ORPHA:649
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Plagiocephaly, Short philtrum, High palate, Everted lower lip vermilion, Microcephaly, Tented upp...	OMIM:616579
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Bilateral single transverse palmar creases, Recurrent respiratory infections, Finger syndactyly, ...	ORPHA:3253
Desanto-Shinawi Syndrome	Brachycephaly, Downturned corners of mouth, Thin upper lip vermilion, Hypoplasia of the corpus ca...	OMIM:616708
Campomelia, Cumming Type	Polycystic kidney dysplasia, Lymphedema, Bowing of the long bones, Short stature, Pancreatic cysts	OMIM:211890
Brachydactyly Type B	Finger syndactyly, Short metacarpal, Synostosis of carpal bones, 2nd-5th toe middle phalangeal hy...	ORPHA:93383
Congenital Megacalycosis	Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph...	ORPHA:93109
Polydactyly, Preaxial Iii	Preaxial polydactyly, Triphalangeal thumb	OMIM:174600
Femur-Fibula-Ulna Complex	Abnormal femur morphology, Finger syndactyly, Split hand, Micromelia, Humeroradial synostosis, Sh...	ORPHA:2019
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia	Hypoplasia of the corpus callosum, Macrocephaly, Cephalohematoma, Patent ductus arteriosus, Flare...	OMIM:620558
Hypoplastic Left Heart Syndrome	Patent ductus arteriosus, Hypoplastic aortic arch, Mitral stenosis, Mitral atresia, Atrial septal...	ORPHA:2248
Familial Exudative Vitreoretinopathy	Macular telangiectasia, Microphthalmia, Macular edema, Lymphedema, Microcephaly, Vitreous hemorrh...	ORPHA:891
Abeta Amyloidosis, Dutch Type	Cerebral calcification, Stroke, Cerebral hemorrhage, Cerebral amyloid angiopathy	ORPHA:100006
Sarcoidosis, Susceptibility To, 2	Pneumothorax, Abnormal pulmonary interstitial morphology, Emphysema, Clubbing, Pleural effusion, ...	OMIM:612387
Diamond-Blackfan Anemia 10	Ectopic kidney, Short stature, Growth delay, Cleft palate, Renal duplication, Supernumerary ribs,...	OMIM:613309
Retinitis Pigmentosa 51	Polydactyly, Abnormality of the kidney	OMIM:613464
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Widely spaced teeth, Hypospadias, Conical tooth, Hypodontia, 2-3 toe syndactyly, Selective tooth ...	OMIM:106260
Immunodeficiency 87 And Autoimmunity	Atrial septal defect, Anasarca, Atrioventricular canal defect, Hypertension, Necrotizing enteroco...	OMIM:619573
Neuroendocrine Tumor Of The Colon	Melena, Hypotension, Tricuspid regurgitation, Facial telangiectasia, Right ventricular failure, P...	ORPHA:100080
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia, Sandal gap, Conical tooth, Oligodontia, Microdontia, Persistence of primary teeth...	OMIM:618727
Combined Oxidative Phosphorylation Deficiency 9	Tubulointerstitial nephritis, Patent foramen ovale, Hypertrophic cardiomyopathy	OMIM:614582
Genitourinary And/Or Brain Malformation Syndrome	Ileal atresia, Dysplastic corpus callosum, Secondary microcephaly, Macrocephaly, Hypospadias, Pol...	OMIM:618820
Rubinstein-Taybi Syndrome	Polyhydramnios, Clinodactyly of the 5th finger, Finger syndactyly, High palate, Abnormality of th...	ORPHA:783
Myopathy With Extrapyramidal Signs	Hypoplastic anterior limbs of the internal capsule, Growth delay, Microcephaly, Perisylvian polym...	OMIM:615673
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Decreased glomerular filtration rate, Polycystic kidney dysplasia, Hypertension, Hepatic cysts, S...	OMIM:618061
Cone-Rod Dystrophy 16	Postaxial polydactyly	OMIM:614500
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia, Macrocephaly, Clinodactyly of the 5th finger, Cavum septum pellucidum, Relative m...	OMIM:617306
Fibrochondrogenesis	Abnormal metaphysis morphology, Plagiocephaly, Abnormal diaphysis morphology, Short ribs, Narrow ...	ORPHA:2021
Brachydactyly-Syndactyly Syndrome	Finger syndactyly, Oligodactyly, Camptodactyly, Short phalanx of finger, Syndactyly, Brachydactyl...	OMIM:610713
Arthrogryposis, Distal, Type 4	Tibial deviation of toes, Camptodactyly of 2nd-5th fingers, Single transverse palmar crease, Cran...	OMIM:609128
Intellectual Developmental Disorder, Autosomal Dominant 67	Posterior plagiocephaly, Thick vermilion border, Recurrent respiratory infections	OMIM:619927
Pfeiffer Syndrome	Turricephaly, Clinodactyly of the 5th finger, Short philtrum, Finger syndactyly, High palate, Syn...	ORPHA:710
Bor Syndrome	Renal hypoplasia/aplasia, Renal insufficiency, Vesicoureteral reflux, Ureteropelvic junction obst...	ORPHA:107
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1	Short stature, Bruising susceptibility, Atrial septal defect, Arterial rupture	OMIM:619115
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Metaphyseal enchondromatosis, Abnormal globus pallidus morphology, Metaphyseal irregularity, Long...	ORPHA:99646
Intellectual Developmental Disorder, Autosomal Dominant 58	Plagiocephaly, Single transverse palmar crease, Dental crowding, High palate, Protruding tongue, ...	OMIM:618106
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 1	Hypoplasia of the pons, Plagiocephaly, Macrocephaly, Cerebellar hypoplasia	OMIM:607313
Split-Hand/Foot Malformation 2	Finger syndactyly, Split hand, Short metacarpal, Split foot, Short phalanx of finger	OMIM:313350
Congenital Bile Acid Synthesis Defect Type 2	Postnatal growth retardation, Prolonged prothrombin time, Steatorrhea, Renal cyst, Dark urine, Fa...	ORPHA:79303
Acrofacial Dysostosis, Palagonia Type	Short 4th metacarpal, Supernumerary tooth, High, narrow palate, Spina bifida occulta, Finger synd...	ORPHA:1787
Neuroendocrine Tumor Of The Rectum	Melena, Hypotension, Tricuspid regurgitation, Facial telangiectasia, Right ventricular failure, H...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Melena, Hypotension, Tricuspid regurgitation, Facial telangiectasia, Right ventricular failure, H...	ORPHA:100082
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Postnatal growth retardation, Thin vermilion border, 2-3 toe cutaneous syndactyly, Anal stenosis,...	OMIM:620029
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6	Patent foramen ovale, Shoulder girdle muscle weakness	OMIM:615156
Hypomandibular Faciocranial Dysostosis	Coronal craniosynostosis, Patent ductus arteriosus, Aglossia, Atrial septal defect, Pursed lips	OMIM:241310
Osteopetrosis With Renal Tubular Acidosis	Cerebral calcification, Abnormal periventricular white matter morphology, Oligohydramnios, Renal ...	ORPHA:2785
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Brachycephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Gingival overgrowth, Vesicour...	OMIM:618797
Primary Triglyceride Deposit Cardiomyovasculopathy	Coronary artery atherosclerosis, Angina pectoris, Low-output congestive heart failure, Renal arte...	ORPHA:565612
Amyloidosis, Finnish Type	Optic neuropathy, Lattice corneal dystrophy, Nephrotic syndrome, Urolithiasis, Cataract, Stage 5 ...	OMIM:105120
Saethre-Chotzen Syndrome	Bilateral single transverse palmar creases, Narrow palate, Brachycephaly, Plagiocephaly, Clinodac...	ORPHA:794
Lateral Meningocele Syndrome	High, narrow palate, Craniofacial hyperostosis, Meningocele, Dental crowding, High palate, Dolich...	ORPHA:2789
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Brachycephaly, Plagiocephaly, Widely spaced teeth, Delayed eruption of teeth, Gingival overgrowth...	OMIM:301072
Craniotubular Dysplasia, Ikegawa Type	Diaphyseal dysplasia, Thick lower lip vermilion, Macrocephaly, Broad ischia, Short stature, Broad...	OMIM:619727
Klippel-Feil Syndrome 2, Autosomal Recessive	Cleft upper lip, Ventricular septal defect, Cleft palate	OMIM:214300
Ciliary Dyskinesia, Primary, 52	Situs inversus totalis, Transposition of the great arteries, Patent ductus arteriosus, Recurrent ...	OMIM:620570
Heart Block, Congenital	Absent atrioventricular node, Cardiomyopathy, Atrial arrhythmia, Myocardial fibrosis, Atrioventri...	OMIM:234700
Autosomal Dominant Robinow Syndrome	Hypoplasia of penis, Severe short stature, Umbilical hernia, Long philtrum, Anodontia, Coxa valga...	ORPHA:3107
Ayme-Gripp Syndrome	Brachycephaly, Long philtrum, Cerebral atrophy, Narrow mouth, Abnormality of the dentition, Campt...	OMIM:601088
Beta-Thalassemia Major	Delayed puberty, Genu valgum, Bowing of the long bones, Abnormality of the dentition, Growth dela...	ORPHA:231214
Brachydactyly Type B2	Finger syndactyly, Short distal phalanx of toe, Synostosis of carpal bones, Short toe, Symphalang...	ORPHA:140908
Aniridia And Absent Patella	Cataract, Aniridia	OMIM:106220
Combined Oxidative Phosphorylation Deficiency 15	Ventricular septal hypertrophy, Wolff-Parkinson-White syndrome, Single transverse palmar crease, ...	OMIM:614947
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Postnatal growth retardation, Thin vermilion border, Brachycephaly, Sandal gap, Single transverse...	OMIM:614800
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Hypoplasia of the corpus callosum, Plagiocephaly, Secondary microcephaly, Urinary incontinence, W...	OMIM:617193
3Mc Syndrome 3	Tessier cleft, Preaxial polydactyly, Penoscrotal hypospadias, Horseshoe kidney, Short stature, Cl...	OMIM:248340
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Postnatal growth retardation, Large placenta, Polyhydramnios, Coat hanger sign of ribs, Abnormal ...	ORPHA:254534
X-Linked Intellectual Disability, Snyder Type	Brachycephaly, Thick lower lip vermilion, Megalencephaly, Ectopic kidney, Hypospadias, Short phil...	ORPHA:3063
Branchioskeletogenital Syndrome	Upper limb peromelia, Ureteral stenosis, Microcephaly, Bifid uvula, Blepharochalasis, Umbilical h...	ORPHA:1299
Rapp-Hodgkin Syndrome	2-3 toe cutaneous syndactyly, Hypospadias, Conical tooth, Hypodontia, Narrow mouth, Microdontia, ...	OMIM:129400
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Ischemic stroke, Corneal neovascularization, Microphthalmia, Dilation of Virchow-Robin spaces, Hy...	OMIM:175780
Ramos-Arroyo Syndrome	Aganglionic megacolon, Smooth tongue, Narrow mouth, Carious teeth, Frontal bossing, Severe short ...	ORPHA:1051
Neurofaciodigitorenal Syndrome	Brachycephaly, Plagiocephaly, Triphalangeal thumb, Unilateral renal agenesis, Abnormal metacarpal...	ORPHA:2673
Adenylosuccinase Deficiency	Brachycephaly, Elevated urinary succinylaminoimidazole carboxamide riboside level, Cerebral atrop...	OMIM:103050
Cdags Syndrome	Rectourethral fistula, Brachycephaly, Lambdoidal craniosynostosis, Hypospadias, Rectovaginal fist...	OMIM:603116
Ulnar-Mammary Syndrome	Delayed puberty, Aplasia of the 4th metacarpal, Short humerus, Absent radius, Aplasia of the 3rd ...	OMIM:181450
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Plagiocephaly, Decreased heart rate variability, Dental crowding, High palate, Increased femoral ...	OMIM:619005
Autoimmune Hemolytic Anemia, Warm Type	Tachycardia, Congestive heart failure, Abnormal urinary color	ORPHA:90033
Fraser Syndrome 2	Microphthalmia, Unilateral renal agenesis, Rectal atresia, Bilateral renal agenesis, Aplasia of t...	OMIM:617666
Galactosialidosis	Conjunctival telangiectasia, Nonimmune hydrops fetalis, Severe short stature, Cherry red spot of ...	OMIM:256540
Rothmund-Thomson Syndrome, Type 2	Supernumerary tooth, Microphthalmia, Anteriorly placed anus, Delayed eruption of teeth, High pala...	OMIM:268400
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Brachycephaly, High, narrow palate, Thick lower lip vermilion, Talipes equinovarus, Short philtru...	OMIM:309583
Pmm2-Cdg	Abnormal renal tubule morphology, Anasarca, Angina pectoris, Dandy-Walker malformation, Cerebella...	ORPHA:79318
Immunodeficiency 110 With Lymphoproliferation	Recurrent aphthous stomatitis, Recurrent lower respiratory tract infections, Patent foramen ovale...	OMIM:614868
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant	Macrocephaly, Cavum septum pellucidum, Microcephaly, Short stature, Intrauterine growth retardati...	OMIM:619714
Aicardi-Goutières Syndrome	Calcification of the aorta, Moyamoya phenomenon, Plagiocephaly, Hypoplasia of the corpus callosum...	ORPHA:51
Niemann-Pick Disease Type C	Cerebral atrophy, Hypoplasia of the corpus callosum, Hydrops fetalis, Foam cells, Frontal cortica...	ORPHA:646
Cree Mental Retardation Syndrome	Rocker bottom foot, Brachycephaly, Hypospadias, Cleft soft palate, Cutaneous finger syndactyly, A...	OMIM:606851
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Hypoplasia of the corpus callosum, Secondary microcephaly, Optic disc hypoplasia, Cerebellar verm...	OMIM:619306
46,Xx Sex Reversal 5	Ventricular septal defect, Secundum atrial septal defect, Urogenital sinus anomaly, Hypoplastic l...	OMIM:618901
Crouzon Syndrome	Brachycephaly, Lambdoidal craniosynostosis, Hydrocephalus, Dental crowding, High palate, Coronal ...	OMIM:123500
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia, Dolichocephaly, Clinodactyly of the 5th finger	OMIM:167730
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome	Brachycephaly, High palate, Pyloric stenosis, Short stature, Frontal bossing, Craniosynostosis, T...	ORPHA:314575
Neurodevelopmental Disorder With Language Delay And Seizures	Thin corpus callosum, Hypothalamic hamartoma, Growth delay, Diffuse cerebral atrophy, Ventricular...	OMIM:619908
Atrial Septal Defect 8	Atrial septal defect, Anomalous pulmonary venous return	OMIM:614433
Limb-Mammary Syndrome	Split hand, Camptodactyly, Split foot, Bifid uvula, Cleft palate, Syndactyly, Hypodontia, Hallux ...	OMIM:603543
Osteogenesis Imperfecta, Type Xvii	Thin metacarpal cortices, Bowed humerus, Thin long bone diaphyses, Short stature, Dentinogenesis ...	OMIM:616507
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Brachycephaly, Abnormal palate morphology, Plagiocephaly, Tarsal synostosis, Hypospadias, Abnorma...	ORPHA:85199
Gorlin-Chaudhry-Moss Syndrome	Brachycephaly, Abnormal metacarpal morphology, Oligodontia, Abnormality of the dentition, Short s...	ORPHA:2095
Grange Syndrome	Renal artery stenosis, Coronary artery stenosis, Renovascular hypertension, Syndactyly, Brachydac...	OMIM:602531
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Bradycardia, Hypertrophic cardiomyopathy, Persistent left superior ...	OMIM:618775
Joubert Syndrome 40	Postaxial polydactyly, Optic nerve hypoplasia	OMIM:619582
Omodysplasia 1	Limited elbow extension, Fibular hypoplasia, Limited elbow flexion/extension, Rhizomelia, Disprop...	OMIM:258315
Exudative Vitreoretinopathy 6	Patchy atrophy of the retinal pigment epithelium, Retinal detachment, Tractional retinal detachme...	OMIM:616468
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Pulmonic stenosis, Secundum atrial septal defect, Abnormal EKG	OMIM:178650
Fatco Syndrome	Abnormal fibula morphology, Tarsal synostosis, Abnormal tibia morphology, Finger syndactyly, Spli...	ORPHA:2492
Neuromuscular Oculoauditory Syndrome	Wrist flexion contracture, Multiple renal cysts, Agenesis of corpus callosum, Reduced renal corti...	OMIM:618733
Postaxial Acrofacial Dysostosis	Hypoplasia of the ulna, Abnormality of the kidney, Hypoplasia of the radius, Postnatal growth ret...	OMIM:263750
Cholestasis, Progressive Familial Intrahepatic, 5	Prolonged prothrombin time, Nonimmune hydrops fetalis, Pleural effusion, Ascites	OMIM:617049
Nance-Horan Syndrome	Microphthalmia	ORPHA:627
African Trypanosomiasis	Myocarditis, Congestive heart failure, Urinary incontinence, Abnormal basal ganglia MRI signal in...	ORPHA:3385
Proximal Symphalangism	Tarsal synostosis, Abnormality of the wrist, Clinodactyly of the 5th finger, Abnormal metacarpal ...	ORPHA:3250
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta	Coarctation of abdominal aorta, Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis	OMIM:226100
Synpolydactyly 2	Polydactyly, Metatarsal synostosis, Tarsal synostosis, Metacarpal synostosis, Toe syndactyly, Car...	OMIM:608180
Pearson Marrow-Pancreas Syndrome	Steatorrhea, Hydrops fetalis, Hypercalciuria, Dehydration, 3-Methylglutaric aciduria, Complex org...	OMIM:557000
Abetalipoproteinemia	Prolonged prothrombin time, Congestive heart failure, Steatorrhea, Abnormal bleeding, Cardiomegal...	ORPHA:14
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Prominent fingertip pads, Microdontia, Eclabion, Microcephaly, Wide mouth, Short philtrum, Short ...	OMIM:619950
Hyperkalemic Periodic Paralysis	Congestive heart failure, Arrhythmia	ORPHA:682
Congenital Disorder Of Glycosylation, Type Iq	Brachycephaly, Polymicrogyria, Microphthalmia, Cerebellar vermis hypoplasia	OMIM:612379
Criss-Cross Heart	Transposition of the great arteries, Tricuspid stenosis, Pulmonic stenosis, Abnormal mitral valve...	ORPHA:1461
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia, Hypospadias, Coloboma, Primary amenorrhea, Cataract, Cryptorchidism, Micropenis, ...	OMIM:603457
Johanson-Blizzard Syndrome	Hypoplasia of the primary teeth, Severe intrauterine growth retardation, Ascites, Microcephaly, U...	OMIM:243800
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Polyhydramnios, Hydroureter, Microcolon, Neoplasm of the heart, Intestinal malrotation, Umbilical...	ORPHA:2241
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Hypoplasia of the corpus callosum, Patent ductus arteriosus, Patent foramen ovale, Vesicoureteral...	ORPHA:438213
Primary Sclerosing Cholangitis	Prolonged prothrombin time, Congestive heart failure, Spider hemangioma, Adenocarcinoma of the la...	ORPHA:171
Keutel Syndrome	Emphysema, Premature fusion of phalangeal epiphyses, Short hallux, Epiphyseal stippling, Cerebral...	OMIM:245150
Meningioma	Urinary incontinence, Hydrocephalus, Neoplasm of the tongue, Cerebral hemorrhage, Syncope	ORPHA:2495
Amoebic Keratitis	Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,...	ORPHA:67043
Neuroocular Syndrome	Microphthalmia, Prominent fingertip pads, Microcephaly, Umbilical hernia, Deep palmar crease, Sho...	OMIM:619539
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation	Ventricular septal defect, Talipes equinovarus	OMIM:209770
Beckwith-Wiedemann Syndrome	Enlarged kidney, Ureteral duplication, Prominent occiput, Large intestinal polyposis, Premature b...	ORPHA:116
Liver Disease, Severe Congenital	Left atrial enlargement, Macrocephaly at birth, Ascites, Umbilical hernia, Intrauterine growth re...	OMIM:619991
Combined Pituitary Hormone Deficiencies, Genetic Forms	Polydactyly, Delayed puberty, Pituitary dwarfism, Optic nerve hypoplasia, Hypotension, Septo-opti...	ORPHA:95494
Duplication Of The Pituitary Gland	Supernumerary tooth, Polyhydramnios, Encephalocele, Brachyturricephaly, Short stature, Microcepha...	ORPHA:314621
Marshall Syndrome	Brachycephaly, Genu valgum, Thick lower lip vermilion, Cerebral calcification, High palate, Abnor...	ORPHA:560
Early Infantile Epileptic Encephalopathy	Hypoplasia of the corpus callosum, Short finger, Broad finger, Broad phalanx of the toes, Uretero...	ORPHA:1934
Double Outlet Left Ventricle	Pulmonary valve atresia, Orofacial cleft, Double outlet left ventricle, Tricuspid atresia, Abnorm...	ORPHA:3427
Bloom Syndrome	Postnatal growth retardation, Clinodactyly of the 5th finger, Bronchiectasis, Growth delay, Facia...	OMIM:210900
Linear Nevus Sebaceus Syndrome	Plagiocephaly, Microphthalmia, Prominent occiput, Dandy-Walker malformation, Cerebral calcificati...	ORPHA:2612
Acrofrontofacionasal Dysostosis 1	Brachycephaly, Microphthalmia, Acetabular dysplasia, Oligodontia, Short metacarpal, Broad thumb, ...	OMIM:201180
Intellectual Developmental Disorder, Autosomal Recessive 72	Long philtrum, Secundum atrial septal defect, Thin upper lip vermilion, Microcephaly	OMIM:618665
Cartilage-Hair Hypoplasia	Limited elbow extension, Neonatal short-limb short stature, Brachycephaly, Aganglionic megacolon,...	OMIM:250250
Ciliary Dyskinesia, Primary, 30	Situs inversus totalis, Dextrocardia, Bronchiectasis, Recurrent respiratory infections, Ventricul...	OMIM:616037
Spondyloocular Syndrome	Femur fracture, Duodenal ulcer, Long toe, Lymphedema, Abnormality of the dentition, Dysplastic ao...	OMIM:605822
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features	Brachycephaly, Hypoplasia of the corpus callosum, Widely spaced teeth, Clinodactyly of the 5th fi...	OMIM:616728
Hyperparathyroidism 2 With Jaw Tumors	Renal cortical adenoma, Polycystic kidney dysplasia, Nephrolithiasis, Papillary renal cell carcin...	OMIM:145001
Autosomal Dominant Hypocalcemia	Congestive heart failure, Hypercalciuria, Hypotension, Hypermagnesiuria, Nephrocalcinosis, Arrhyt...	ORPHA:428
Pituitary Deficiency Due To Rathke Cleft Cysts	Hydrocephalus, Intracranial hemorrhage	ORPHA:91350
Malignant Hyperthermia Of Anesthesia	Acute kidney injury, Cardiomyocyte mitochondrial proliferation, Myoglobinuria, Supraventricular t...	ORPHA:423
Granulomatous Disease, Chronic, X-Linked	Air bronchogram, Atelectasis, Rectal abscess, Pleural effusion, Ascites, Recurrent pneumonia	OMIM:306400
Atrial Septal Defect 9	Bicuspid aortic valve, Secundum atrial septal defect, Pulmonary arterial hypertension	OMIM:614475
8Q22.1 Microdeletion Syndrome	Sandal gap, Finger syndactyly, Abnormality of the dentition, Microcephaly, Camptodactyly of finge...	ORPHA:178303
Lacrimoauriculodentodigital Syndrome	Corneal neovascularization, Microdontia, Bifid uvula, Absent thumb, Syndactyly, Clinodactyly, Hyp...	ORPHA:2363
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Unilateral renal agenesis, Severe postnatal growth retardation, Polycystic kidney dysplasia, Vesi...	ORPHA:2237
Neuroendocrine Tumor Of Stomach	Hematemesis, Melena, Hypotension, Tricuspid regurgitation, Facial telangiectasia, Right ventricul...	ORPHA:100075
Intellectual Developmental Disorder, Autosomal Dominant 4	Short toe, Syndactyly	OMIM:612581
Bdv Syndrome	Delayed puberty, Atrial septal defect, Micropenis	OMIM:619326
Diets-Jongmans Syndrome	Polyhydramnios, Breech presentation, Hypospadias, Interrupted inferior vena cava with azygous con...	OMIM:618846
Renal Coloboma Syndrome	Multicystic kidney dysplasia, Vesicoureteral reflux, Renal hypoplasia, Renal dysplasia, Renal ins...	ORPHA:1475
Distal Renal Tubular Acidosis	Low-molecular-weight proteinuria, Hypocitraturia, Decreased glomerular filtration rate, Renal pot...	ORPHA:18
Gapo Syndrome	Plagiocephaly, High, narrow palate, Thick lower lip vermilion, Tubulointerstitial fibrosis, Erupt...	OMIM:230740
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Delayed puberty, Postnatal growth retardation, Steatorrhea, Brachycephaly, Secondary microcephaly...	OMIM:616263
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Hypoplasia of the corpus callosum, Everted upper lip vermilion, Absent cupid's bow, Widely spaced...	ORPHA:513456
Vitreoretinochoroidopathy	Microphthalmia, Retinal arteriolar occlusion, Retinal arteriolar constriction, Vitreous hemorrhag...	OMIM:193220
Bardet-Biedl Syndrome 20	2-3 toe syndactyly, Postaxial hand polydactyly, Postaxial polydactyly, Proteinuria, Atrial septal...	OMIM:619471
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Flat acetabular roof, Microcephaly, Perisylvian polymicrogyria, Metaphyseal irregularity, Ventric...	OMIM:610442
Senior-Boichis Syndrome	Tubular luminal dilatation, Hypertension, Renal atrophy, Abnormal renal insterstitial morphology,...	ORPHA:84081
Blepharonasofacial Malformation Syndrome	Finger syndactyly, Non-midline cleft of the upper lip, Tooth agenesis, Cleft palate, Long philtrum	ORPHA:1252
Eec Syndrome	Renal hypoplasia/aplasia, Proximal placement of thumb, Microdontia, Tooth agenesis, Split foot, T...	ORPHA:1896
Heterotaxy, Visceral, 6, Autosomal	Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Right aortic arch, Tot...	OMIM:614779
Atrial Septal Defect 1	Atrial septal dilatation, Persistent left superior vena cava, Aortic valve stenosis, Tetralogy of...	OMIM:108800
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Rocker bottom foot, Brachycephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Narrow mo...	OMIM:601353
Long Qt Syndrome 8	Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syndactyly, Syncope, Aborted...	OMIM:618447
Carcinoid Syndrome	Tricuspid regurgitation, Facial telangiectasia, Right ventricular failure, Heart murmur, Palpitat...	ORPHA:100093
Intellectual Developmental Disorder, Autosomal Dominant 29	Narrow palate, Brachycephaly, Sandal gap, Dental crowding, High palate, Narrow mouth, Ankylogloss...	OMIM:616078
Acute Liver Failure	Prolonged prothrombin time, Acute kidney injury, Gastrointestinal hemorrhage, Abnormal bleeding, ...	ORPHA:90062
Cardiac Septal Defects With Coarctation Of The Aorta	Perimembranous ventricular septal defect, Secundum atrial septal defect, Coarctation of aorta	OMIM:212090
Bifid Nose With Or Without Anorectal And Renal Anomalies	Brachycephaly, Unilateral renal agenesis, Short philtrum, Rectovaginal fistula, Short lingual fre...	OMIM:608980
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Microcephaly, Cerebellar hypoplasia, Clinodactyly, Syndactyly	OMIM:618087
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Brachycephaly, Long philtrum, Thin vermilion border, Rectal prolapse, Cubitus valgus, Short metat...	OMIM:617157
Fucosidosis	Mucopolysacchariduria, Abnormality of the dentition, Brachycephaly, Cardiomegaly	ORPHA:349
Faciodigitogenital Syndrome, Autosomal Recessive	Narrow palate, Brachycephaly, Clinodactyly of the 5th finger, Pollakisuria, High palate, Short fo...	OMIM:227330
Bardet-Biedl Syndrome 12	Polydactyly, Hydroureter, Postaxial hand polydactyly, Hydronephrosis, Postaxial foot polydactyly,...	OMIM:615989
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Hypoplasia of the corpus callosum, High palate, Growth delay, Microcephaly, Premature birth, Agen...	OMIM:619418
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Congestive heart failure, Polyhydramnios, Ascites, 4-Hydroxyphenylpyruvic aciduria, Intrauterine ...	OMIM:617156
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogonadism, Primary am...	OMIM:157640
Paternal Uniparental Disomy Of Chromosome 6	Postnatal growth retardation, Abnormal placenta morphology, Prominent occiput, Gingival overgrowt...	ORPHA:96191
Osteogenesis Imperfecta, Type Xx	Narrow palate, Brachycephaly, Plagiocephaly, Disproportionate short-limb short stature, High pala...	OMIM:618644
Osteopetrosis, Autosomal Recessive 8	Unilateral microphthalmos	OMIM:615085
Autism, Susceptibility To, X-Linked 2	Plagiocephaly	OMIM:300495
Axenfeld-Rieger Syndrome, Type 3	Cerebellar vermis hypoplasia, Microdontia, Hypoplasia of the iris, Patent ductus arteriosus, Hypo...	OMIM:602482
Joubert Syndrome 33	Macrocephaly, Syndactyly	OMIM:617767
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Renal hypoplasia/aplasia, Hydroureter, Urogenital sinus anomaly, Anal atresia, Tracheoesophageal ...	ORPHA:2973
Incontinentia Pigmenti	Microphthalmia, Conical tooth, Delayed eruption of teeth, Oligodontia, Retinal hemorrhage, Short ...	OMIM:308300
Blepharo-Cheilo-Odontic Syndrome	Conical tooth, Finger syndactyly, Bilateral cleft palate, Anal atresia, Carious teeth	ORPHA:1997
Immunodeficiency 96	Conjunctival telangiectasia, Multicystic kidney dysplasia, Recurrent lower respiratory tract infe...	OMIM:619774
Neutral Lipid Storage Myopathy	Congestive heart failure, Cardiomyopathy, Hand muscle weakness, Short stature, Shoulder girdle mu...	ORPHA:98908
Axial Osteomalacia	Renal cyst	OMIM:109130
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Sick sinus syndrome, Bradycardia, Patent foramen ovale, Ventricular escape rhythm, Arrhythmia, Pr...	ORPHA:542306
Interstitial Nephritis, Karyomegalic	Nephronophthisis, Hematuria, Glycosuria, Proteinuria, Renal interstitial fibrosis, Stage 5 chroni...	OMIM:614817
Short Stature With Microcephaly And Distinctive Facies	Hypoplasia of the corpus callosum, Proximal placement of thumb, Microcephaly, Frontal bossing, Se...	OMIM:615789
Acys Amyloidosis	Stroke, Cerebral hemorrhage, Cerebral amyloid angiopathy	ORPHA:100008
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Widely spaced teeth, Clinodactyly of the 5th finger, Conical tooth, Finger syndactyly, Delayed er...	ORPHA:1071
Polycystic Liver Disease 4 With Or Without Kidney Cysts	Hepatic cysts, Renal cyst	OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts	Hepatic cysts, Renal cyst	OMIM:617874
Pyruvate Kinase Deficiency Of Red Cells	Intrauterine growth retardation, Nonimmune hydrops fetalis	OMIM:266200
Diphallia	Penoscrotal transposition, Epispadias, Ureteral duplication, Bifid penis, Hypospadias, Abnormal p...	ORPHA:227
Monosomy 22	Thin vermilion border, Clinodactyly of the 5th finger, Prominent occiput, Finger syndactyly, Sing...	ORPHA:96123
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Hemiballismus, 2-3 toe syndactyly, Brachyturricephaly, Bilateral talipes equinovarus, Equinus cal...	ORPHA:522077
Developmental And Epileptic Encephalopathy 84	Plagiocephaly, Thick lower lip vermilion, Microcephaly, Smooth philtrum, Ventriculomegaly	OMIM:618792
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Tented philtrum, Hypospadias, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Dandy-Walker ...	ORPHA:495875
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Polymicrogyria, High palate, Syndactyly, Umbilical hernia, Aminoaciduria, Ketonuria	OMIM:614520
Peroxisome Biogenesis Disorder 4A (Zellweger)	Renal cyst, Epiphyseal stippling	OMIM:614862
Cleidocranial Dysplasia 2	Supernumerary tooth, Plagiocephaly, Genu valgum, Delayed pubic bone ossification, Short clavicles...	OMIM:620099
Hereditary Elliptocytosis	Postnatal growth retardation, Frontal bossing, Hydrops fetalis	ORPHA:288
Distal Deletion 19P	Pulmonary valve atresia, Tricuspid valve prolapse, Short philtrum, Arachnodactyly, Cleft palate, ...	ORPHA:96129
Tibial Aplasia-Ectrodactyly Syndrome	Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem...	ORPHA:3329
Trichothiodystrophy 1, Photosensitive	Intestinal obstruction, Microphthalmia, Triangular mouth, Short stature, Microcephaly, Telangiect...	OMIM:601675
Stolerman Neurodevelopmental Syndrome	Clinodactyly of the 5th finger, Abnormality of the dentition, Bifid uvula, Wide mouth, Syndactyly...	OMIM:618505
Ectodermal Dysplasia-Blindness Syndrome	Short stature, Microphthalmia	ORPHA:1806
Tsh-Secreting Pituitary Adenoma	Delayed puberty, Congestive heart failure, Supraventricular arrhythmia, Hypertension, Hypotension...	ORPHA:91347
Autoinflammatory Disease, Systemic, X-Linked	Cerebral hemorrhage, Conical tooth	OMIM:301081
Cerebellar Ataxia-Hypogonadism Syndrome	Short stature, Clinodactyly of the 5th finger, Brachycephaly	ORPHA:1173
Arthrogryposis And Ectodermal Dysplasia	Brachycephaly, Orofacial cleft, Abnormal dental enamel morphology, Oligodontia, Camptodactyly, Sh...	OMIM:601701
Triosephosphate Isomerase Deficiency	Cerebral atrophy, Congestive heart failure, Oligohydramnios	OMIM:615512
Blepharocheilodontic Syndrome 2	Tooth agenesis, Cleft lip, Cutaneous syndactyly, Conical tooth	OMIM:617681
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Rocker bottom foot, Breech presentation, Hypertension, Femoral bowing, Microcephaly, Arachnodacty...	OMIM:201750
Robinow-Sorauf Syndrome	Plagiocephaly, Broad thumb, Broad hallux, Pansynostosis, Craniosynostosis, Hallux valgus, Duplica...	OMIM:180750
Craniosynostosis And Dental Anomalies	Turricephaly, Dental crowding, Trigonocephaly, Clinodactyly, Narrow palate, Short stature, Short ...	OMIM:614188
Mody	Abnormality of the kidney, Renal cyst, Glycosuria, Intrauterine growth retardation, Nephropathy	ORPHA:552
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Aortic Valve Disease 1	Ventricular septal defect, Aortic valve stenosis, Mitral stenosis, Tetralogy of Fallot, Aortic va...	OMIM:109730
Epidermolysis Bullosa, Junctional 1B, Severe	Pyloric stenosis, Carious teeth, Enamel hypoplasia, Syndactyly	OMIM:226700
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Secundum atrial septal defect, Pulmonary fibrosis	OMIM:611926
Aceruloplasminemia	Congestive heart failure, Abnormal corpus striatum morphology	ORPHA:48818
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Hypoplasia of the corpus callosum, Global brain atrophy, Microcephaly, Cerebral cortical atrophy,...	ORPHA:457351
Elsahy-Waters Syndrome	Bifid uvula, Broad philtrum, Abnormality of the anus, Long philtrum, Phthisis bulbi, Impacted too...	OMIM:211380
X-Linked Intellectual Disability, Golabi-Ito-Hall Type	Growth delay, Microcephaly, Short stature, Atrial septal defect, Macroglossia	ORPHA:93947
Congenital Disorder Of Deglycosylation 1	Brachycephaly, 3-Methylglutaconic aciduria, Dilation of Virchow-Robin spaces, Keratan sulfate exc...	OMIM:615273
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal salt wasting, Decreased glomerular filtration rate, Glomerular sclerosis, Tubulointerstitia...	OMIM:174000
Sclerosteosis 1	Tooth malposition, Abnormal pelvic girdle bone morphology, Deviation of finger, Frontal bossing, ...	OMIM:269500
Bone Marrow Failure Syndrome 5	Testicular atrophy, Hypogonadism	OMIM:618165
Combined Oxidative Phosphorylation Deficiency 3	Decreased fetal movement, Concentric hypertrophic cardiomyopathy, Patent foramen ovale, Patent du...	OMIM:610505
17Q12 Microdeletion Syndrome	Cerebral atrophy, Renal hypoplasia/aplasia, Renal insufficiency, Subcortical cerebral atrophy, Ur...	ORPHA:261265
Nance-Horan Syndrome	Broad finger, Microphthalmia, Supernumerary maxillary incisor, Screwdriver-shaped incisors, Short...	OMIM:302350
Faciocardiomelic Syndrome	Polydactyly, Slender long bone, Hypoplastic pelvis, Microcephaly, Common atrium, Wide mouth, Long...	OMIM:612731
Autosomal Recessive Faciodigitogenital Syndrome	Brachycephaly, Clinodactyly of the 5th finger, Finger syndactyly, Open bite, High palate, Short f...	ORPHA:1974
Mayer-Rokitansky-Küster-Hauser Syndrome	Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney, Pulmonic stenosis, Atrial s...	ORPHA:3109
Dohle Bodies And Leukemia	Secundum atrial septal defect, Lymphedema	OMIM:223350
Lesch-Nyhan Syndrome	Testicular atrophy, Nephrocalcinosis, Hyperuricosuria, Nephrolithiasis	OMIM:300322
Lowe Oculocerebrorenal Syndrome	Low-molecular-weight proteinuria, Bicarbonaturia, Wrist swelling, Joint contracture of the hand, ...	OMIM:309000
Joubert Syndrome 17	Postaxial polydactyly, Abnormal renal morphology, Preaxial polydactyly, 3-4 finger syndactyly	OMIM:614615
Epidermal Nevus Syndrome	Polycystic kidney dysplasia, Weakness of long finger extensor muscles, Aortic aneurysm	ORPHA:35125
Epidermolysis Bullosa, Lethal Acantholytic	Clinodactyly of the 5th finger, Sandal gap, Tapered distal phalanges of finger, Natal tooth, Neon...	OMIM:609638
Nelson Syndrome	Increased urinary cortisol level, Hypertension, Intracranial hemorrhage	ORPHA:199244
Angelman Syndrome	Brachycephaly, Secondary microcephaly, Widely spaced teeth, Protruding tongue, Cerebral cortical ...	OMIM:105830
Anemia, Congenital Dyserythropoietic, Type Ib	Growth delay, Syndactyly, Short stature	OMIM:615631
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Purpura, Clinodactyly of the 5th finger, Ulnar bowing, Petechiae, Proximal radio-ulnar synostosis...	OMIM:605432
Renal Cysts And Diabetes Syndrome	Abnormality of the kidney, Hypospadias, Unilateral renal agenesis, Multiple glomerular cysts, Abn...	OMIM:137920
Pancreatic And Cerebellar Agenesis	Optic nerve hypoplasia, Severe intrauterine growth retardation, Microcephaly, Secundum atrial sep...	OMIM:609069
Ebstein Anomaly	Atrial fibrillation, Right bundle branch block, Ebstein anomaly of the tricuspid valve, Ventricul...	OMIM:224700
Moebius Syndrome	Aplasia of the pectoralis major muscle, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the...	ORPHA:570
Medullary cystic kidney disease 2	Enuresis, Renal tubular atrophy, Multiple renal cysts, Renal corticomedullary cysts, Stage 5 chro...	OMIM:603860
Pancreatic insufficiency, combined exocrine	Congestive heart failure, Anasarca, Anal atresia	OMIM:260450
Msh3-Related Attenuated Familial Adenomatous Polyposis	Neoplasm of the rectum, Colorectal polyposis, Stomach cancer, Ovarian dermoid cyst, Renal cyst, C...	ORPHA:480536
Hyperparathyroidism-Jaw Tumor Syndrome	Peptic ulcer, Hypercalciuria, Renal hamartoma, Nephrolithiasis, Renal cyst, Nephrocalcinosis, Sho...	ORPHA:99880
Postaxial Acrofacial Dysostosis	Hypoplasia of the ulna, Hypoplasia of the radius, Finger syndactyly, Non-midline cleft of the upp...	ORPHA:246
Autosomal Dominant Coarctation Of Aorta	Abnormal aortic arch morphology, Aortic arch aneurysm, Patent ductus arteriosus, Ventricular sept...	ORPHA:1455
Parathyroid Carcinoma	Peptic ulcer, Hypercalciuria, Renal hamartoma, Nephrolithiasis, Renal cyst, Nephrocalcinosis, Sho...	ORPHA:143
Carney Complex	Esophageal neoplasm, Congestive heart failure, Neoplasm of the stomach, Abnormal hard palate morp...	ORPHA:1359
Heterotaxy, Visceral, 8, Autosomal	Atrial situs ambiguous, Congenitally corrected transposition of the great arteries with ventricul...	OMIM:617205
Hepatoerythropoietic Porphyria	Erythrodontia, Abnormal bleeding, Red urine, Purple urine, Red-brown urine, Abnormality of the am...	ORPHA:95159
Acute Transverse Myelitis	Urinary incontinence, Orthostatic hypotension, Hypertension, Urinary bladder sphincter dysfunctio...	ORPHA:139417
Sarcoidosis, Susceptibility To, 1	Abnormal pulmonary interstitial morphology, Abnormal salivary gland morphology, Emphysema, Hyperc...	OMIM:181000
Microphthalmia/Coloboma 9	Microphthalmia	OMIM:615145
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Tibial bowing, Short stature, Microcephaly, Metaphyseal widening, Phthisis bulbi,...	OMIM:259770
Diamond-Blackfan Anemia 5	Short stature, Ventricular septal defect, Hypospadias	OMIM:612528
Orotic Aciduria	Oroticaciduria, Hematuria, Orotic acid crystalluria, Atrial septal defect, Ventricular septal defect	OMIM:258900
9P13 Microdeletion Syndrome	Brachycephaly, Clinodactyly of the 5th finger, High palate, Short stature, Umbilical hernia, Abse...	ORPHA:324313
Camptobrachydactyly	Urinary incontinence, Congenital finger flexion contractures, Hand polydactyly, Short toe, Syndac...	OMIM:114150
Beta-Thalassemia Intermedia	Proximal tubulopathy, Pulmonary arterial hypertension, High-output congestive heart failure	ORPHA:231222
Traboulsi Syndrome	Short finger, Microphthalmia, Cubitus valgus, Homocystinuria, High palate, Arachnodactyly, Bifid ...	OMIM:601552
Alström Syndrome	Urinary incontinence, Hypertension, Recurrent cystitis, Tooth agenesis, Recurrent sinusitis, Stag...	ORPHA:64
Multicystic Dysplastic Kidney	Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Hypertension, Ve...	ORPHA:1851
Dyskeratosis Congenita, Autosomal Recessive 2	Testicular atrophy	OMIM:613987
Common Variable Immunodeficiency	Brachycephaly, Purpura, Emphysema, Vasculitis, Recurrent bronchitis, Anal atresia, Gastrointestin...	ORPHA:1572
Diamond-Blackfan Anemia 4	Growth delay, Atrial septal defect, Short stature	OMIM:612527
Ferguson-Bonni Neurodevelopmental Syndrome	Patent foramen ovale, High palate, Coronary-pulmonary artery fistula	OMIM:619699
Pili Torti-Onychodysplasia Syndrome	Palmoplantar keratoderma, Cleft lip, Cutaneous syndactyly, Cleft palate	ORPHA:2890
Larsen Syndrome	Broad distal phalanx of finger, Finger syndactyly, Abnormal epiphysis morphology, Broad thumb, Sh...	ORPHA:503
Culler-Jones Syndrome	Postaxial polydactyly, Cleft upper lip, Short stature, Cleft palate, Micropenis	OMIM:615849
Xeroderma Pigmentosum, Complementation Group B	Short stature, Microphthalmia	OMIM:610651
Congenital Erythropoietic Porphyria	Erythrodontia, Abnormal bleeding, Increased urinary porphobilinogen, Purple urine, Porphyrinuria,...	ORPHA:79277
Kindler Epidermolysis Bullosa	Cheilitis, Turricephaly, Abnormality of the anus, Short 4th metacarpal, Phimosis, Carious teeth, ...	ORPHA:2908
Peroxisome Biogenesis Disorder 1B	Hyperoxaluria, Renal cyst, Epiphyseal stippling	OMIM:601539
Von Hippel-Lindau Syndrome	Pulmonary capillary hemangiomatosis, Hypertension, Renal cell carcinoma, Multiple renal cysts, Ep...	OMIM:193300
Diamond-Blackfan Anemia 12	Ventricular septal defect, Triphalangeal thumb	OMIM:615550
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Patent foramen ovale, Rectoperineal fistula, Coarctation of aorta, Tetralogy of Fallot, Agenesis ...	OMIM:618748
Laurin-Sandrow Syndrome	Triphalangeal thumb, Absent tibia, Fibular duplication, Hand polydactyly, Patellar aplasia, Synda...	OMIM:135750
Hyperferritinemia With Or Without Cataract	Anterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Cataract	OMIM:600886
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Microphthalmia, Aplasia/Hypoplasia of the corpus callosum, Hydrocephalus, Polymicrogyria, Type II...	OMIM:253280
Caroli Disease	Polycystic kidney dysplasia, Esophageal varix, Ascites, Portal hypertension	ORPHA:53035
Aica-Ribosiduria	Brachycephaly, Wide mouth, Thin upper lip vermilion	ORPHA:250977
Congenital Myopathy 13	Brachycephaly, High palate, Bilateral talipes equinovarus, Short stature, Microcephaly, Downturne...	OMIM:255995
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Congenital bilateral hip dislocation, Cerebral cortical atrophy, Syndactyly	ORPHA:404451
Congenital Pulmonary Valvar Stenosis	Atrial septal defect	ORPHA:3189
Hypoglossia-Hypodactyly Syndrome	Aplasia/Hypoplasia of fingers, Finger syndactyly, Hypodontia, Adactyly, Split hand, High palate, ...	ORPHA:989
Humeroradial Synostosis	Humeroradial synostosis, Renal insufficiency, Brachycephaly	OMIM:236400
Friedreich Ataxia 2	Congestive heart failure, Hammertoe, Concentric hypertrophic cardiomyopathy, Muscular subvalvular...	OMIM:601992
Familial Adenomatous Polyposis 4	Gastric adenocarcinoma, Renal cyst, Ovarian cyst, Adenomatous colonic polyposis, Duodenal polyposis	OMIM:617100
Osteogenesis Imperfecta, Type Xi	Brachycephaly, Coxa vara, Short stature, Protrusio acetabuli, Dentinogenesis imperfecta	OMIM:610968
Lacrimoauriculodentodigital Syndrome 1	Microdontia, Bilateral triphalangeal thumbs, Absent radius, Delayed eruption of primary teeth, Hy...	OMIM:149730
Atrial Septal Defect 5	Secundum atrial septal defect	OMIM:612794
Atrial Septal Defect 3	Secundum atrial septal defect	OMIM:614089
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Abnormality of the hand, Fibular aplasia, Tibial bowing, Finger aplasia, Foot oligodactyly, Synda...	OMIM:246570
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities	Brachycephaly, Wide mouth	OMIM:616083
Isolated Split Hand-Split Foot Malformation	Aniridia, Finger syndactyly, Oligodactyly, Split hand, Absent hand	ORPHA:2440
Choanal Atresia	Polydactyly, Craniosynostosis, Recurrent respiratory infections	ORPHA:137914
Xeroderma Pigmentosum, Complementation Group D	Microcephaly, Corneal neovascularization, Microphthalmia, Telangiectasia	OMIM:278730
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay	Patent foramen ovale	OMIM:618832
Frontofacionasal Dysplasia	Brachycephaly, Orofacial cleft, Microphthalmia, Hypoplasia of the frontal bone, Cleft upper lip, ...	OMIM:229400
Autosomal Dominant Kenny-Caffey Syndrome	Postnatal growth retardation, Bilateral microphthalmos, Postnatal macrocephaly, Thin long bone di...	ORPHA:93325
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome	Brachycephaly, Broad distal phalanx of finger, Proximal placement of thumb, Palmar edema, Enlarge...	ORPHA:2988
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Acute kidney injury, Glomerulopathy, Hypospadias, Renal insufficiency, Renal cell carcinoma, Rena...	ORPHA:93111
Autosomal Dominant Popliteal Pterygium Syndrome	Finger syndactyly, Non-midline cleft of the upper lip, Split hand, Abnormal rib morphology, Cleft...	ORPHA:1300
Cntnap2-Related Developmental And Epileptic Encephalopathy	Periventricular leukomalacia, Preaxial polydactyly, Abnormal neuron morphology	ORPHA:163681
Klippel-Trenaunay-Weber Syndrome	Macrodactyly, Arteriovenous fistula, Lymphedema, Finger aplasia, Hand polydactyly, Syndactyly	OMIM:149000
Achard Syndrome	Brachycephaly, Arachnodactyly, Broad skull	OMIM:100700
Full Nf2-Related Schwannomatosis	Cortical cataract, Posterior subcapsular cataract, Remnants of the hyaloid vascular system	ORPHA:637
Caroli Syndrome	Hematemesis, Abnormality of the kidney, Abnormal bleeding, Melena, Polycystic kidney dysplasia, E...	ORPHA:480520
Neurofibromatosis-Noonan Syndrome	Macrocephaly, Cubitus valgus, Pulmonic stenosis, Short stature, Secundum atrial septal defect, Th...	OMIM:601321
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Preaxial polydactyly	ORPHA:2921
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Finger syndactyly, Short hard palate, Short stature, Abnormal mitral valve morphology, Genu varum	ORPHA:1969
Craniorachischisis	Sirenomelia, Anencephaly, Bifid sternum, Myelomeningocele, Anal atresia, Spinal dysraphism, Cervi...	ORPHA:63260
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Polycystic kidney dysplasia, Renal angiomyolipoma, Cortical tubers	OMIM:600273
Spinocerebellar Ataxia Type 7	Cerebral atrophy, Congestive heart failure	ORPHA:94147
Camptobrachydactyly	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Camptodactyly of finger, Brachydactyly, Ulnar...	ORPHA:1319
Right Pulmonary Artery, Anomalous Origin Of, Familial	Patent foramen ovale, Anomalous origin of right pulmonary artery from ascending aorta, Coarctatio...	OMIM:610338
Faundes-Banka Syndrome	Delayed puberty, Plagiocephaly, Flexion contracture of toe, Frontal bossing, Cleft palate, Intrau...	OMIM:619376
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia	OMIM:188740
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Plagiocephaly, Craniosynostosis, Short lingual frenulum, High palate, Wide mouth, Aplasia/Hypopla...	ORPHA:1521
Limb-Mammary Syndrome	Cleft hard palate, Clinodactyly of the 5th finger, Hypodontia, Oligodactyly, Bifid uvula, Cleft p...	ORPHA:69085
Combined Immunodeficiency-Enteropathy Spectrum	Polyhydramnios, Rectal abscess, Intestinal malrotation, Congenital pulmonary airway malformation,...	ORPHA:436252
Progressive Non-Infectious Anterior Vertebral Fusion	Brachycephaly, Thin vermilion border, Short philtrum, Proximal radio-ulnar synostosis, Large hand...	ORPHA:2062
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Right aortic arch, Coarctation of aorta, Bifid sternum	OMIM:140850
Choroidal Atrophy-Alopecia Syndrome	Finger syndactyly	ORPHA:1433
Kenny-Caffey Syndrome, Type 2	Microphthalmia, Severe short stature	OMIM:127000
Attenuated Familial Adenomatous Polyposis	Neoplasm of the stomach, Colorectal polyposis, Rectal polyposis, Adenocarcinoma of the colon, Lar...	ORPHA:220460
Steinert Myotonic Dystrophy	Posterior subcapsular cataract, Astigmatism, Decreased response to growth hormone stimulation tes...	ORPHA:273
Seckel Syndrome	Clinodactyly of the 5th finger, Sandal gap, Abnormal dental enamel morphology, Tooth agenesis, Sh...	ORPHA:808
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microcephaly, Microphthalmia, High palate	OMIM:110100
Hypocalciuric Hypercalcemia, Familial, Type Iii	Peptic ulcer, Hypocalciuria, Parathormone-independent increased renal tubular calcium reabsorptio...	OMIM:600740
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Abnormal palate morphology, Plagiocephaly, Hydrocephalus, Narrow iliac wing, Short stature, Hip c...	ORPHA:3042
Congenital Fibrosis Of Extraocular Muscles	Optic nerve hypoplasia, Plagiocephaly, Finger aplasia, Polymicrogyria	ORPHA:45358
Treacher Collins Syndrome 1	Bilateral microphthalmos, Cleft soft palate, Narrow mouth, Abnormal heart morphology, Wide mouth,...	OMIM:154500
Mayer-Rokitansky-Kuster-Hauser Syndrome	Renal cyst, Reduced renal corticomedullary differentiation, Polycystic ovaries, Multicystic kidne...	OMIM:277000
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Delayed puberty, Supernumerary tooth, Agenesis of molar, Hypospadias, Bicoronal synostosis, Micro...	OMIM:619718
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Congenital Disorder Of Glycosylation, Type Iiw	Prolonged prothrombin time, Supernumerary tooth, Ankyloglossia, Microscopic hematuria, Tetralogy ...	OMIM:619525
Retinitis Pigmentosa 74	Polydactyly, Abnormal renal morphology	OMIM:616562
Hypoplastic Left Heart Syndrome 2	Hypoplastic left heart, Mitral atresia, Ventricular septal defect, Aortic valve atresia	OMIM:614435
Primrose Syndrome	Delayed puberty, Brachycephaly, Hypoplasia of the corpus callosum, Genu valgum, Thick lower lip v...	OMIM:259050
Adult Syndrome	Finger syndactyly, Abnormality of the dentition, Split foot, Abnormal dental morphology, Toe synd...	ORPHA:978
Immunodeficiency 47	Tricuspid regurgitation	OMIM:300972
Familial Cerebral Cavernous Malformation	Venous malformation, Cerebral hemorrhage	ORPHA:221061
Tukel Syndrome	Postaxial oligodactyly, Carpal synostosis, Syndactyly, Carpal bone aplasia	OMIM:609428

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 Pcnt

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 Pcnt.

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

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Pcnt^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Pcnt^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Pcnt^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Pcnt^em1(IMPC)Mbp	Exon 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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us

Gene: Pcnt MGI:102722

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

MicroCT E14.5-E15.5

Gross Morphology Embryo E14.5-E15.5

Human diseases caused by Pcnt mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 21.0 Data