Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Joint dislocation, Abnormality of the temporomandibular joint, Multiple joint contrac... |
ORPHA:536471 |
Chromosome 18Q Deletion Syndrome |
|
Mandibular prognathia, Decreased response to growth hormone stimulation test, Proximal placement ... |
OMIM:601808 |
Emanuel Syndrome |
|
Multiple joint contractures, Congenital hip dislocation, Dental crowding, Congenital diaphragmati... |
ORPHA:96170 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Thoracic scoliosis, Single transverse palmar crease, Polyhydramnios, Micrognathia... |
OMIM:620186 |
Fg Syndrome Type 1 |
|
Dental crowding, Single transverse palmar crease, Prominent nose, Micrognathia, Generalized joint... |
ORPHA:93932 |
Emanuel Syndrome |
|
Congenital hip dislocation, Dental crowding, Congenital diaphragmatic hernia, Micrognathia, High ... |
OMIM:609029 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... |
OMIM:146510 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Mandibular prognathia, Thoracic scoliosis, Bicuspid aortic valve, Short neck, Micrognathia, Gener... |
ORPHA:508498 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Decreased response to growth hormone stimulation test, Short neck, Hemivertebrae, Low anterior ha... |
OMIM:618223 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Joint dislocation, Bicuspid aortic valve, Decreased response to growth hormo... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Joint dislocation, Bicuspid aortic valve, Decreased response to growth hormo... |
ORPHA:363958 |
Verheij Syndrome |
|
Branchial cyst, Short neck, Hemivertebrae, Renal cyst, Coloboma, Joint laxity, Vertebral fusion, ... |
OMIM:615583 |
Holoprosencephaly |
|
Hypoplasia of penis, Congenital diaphragmatic hernia, Short neck, Abnormality of the spleen, Deep... |
ORPHA:2162 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Ectopic posterior pituitary, Thoracic scoliosis, Congenital hip dislocation, Sing... |
ORPHA:508488 |
22Q11.2 Deletion Syndrome |
|
Polyhydramnios, Short neck, Micrognathia, Anorectal anomaly, Abnormal lung lobation, Abnormal aor... |
ORPHA:567 |
Rubinstein-Taybi Syndrome 1 |
|
Dental crowding, Single transverse palmar crease, Bilateral cryptorchidism, High, narrow palate, ... |
OMIM:180849 |
Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Adrenal hypoplasia, Short neck, Asplenia, Micrognathia, Webbed neck, Lob... |
OMIM:249000 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Polyhydramnios, Abnormal left ventricular function, Leukopenia, Pulmonary artery atresia, Vesicou... |
OMIM:301056 |
Mosaic Trisomy 1 |
|
Thoracic scoliosis, Cerebellar vermis hypoplasia, Single transverse palmar crease, Congenital dia... |
ORPHA:1692 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Cerebellar vermis hypoplasia, High, narrow palate, Anteriorly placed anus, Gastroesophageal reflu... |
OMIM:618494 |
Stankiewicz-Isidor Syndrome |
|
Ureteral duplication, Sacral dimple, Ventricular septal defect, Hypospadias, Prominent nose, Abse... |
OMIM:617516 |
Acrootoocular Syndrome |
|
Decreased response to growth hormone stimulation test, Abnormal finger flexion crease, Decreased ... |
ORPHA:2980 |
Variant Abeta2M Amyloidosis |
|
Amyloidosis of peripheral nerves, Intestinal perforation, Abnormal vascular morphology, Spinal co... |
ORPHA:314652 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Thoracic scoliosis, Cerebellar vermis hypoplasia, Single transverse palmar crease, Sh... |
OMIM:611209 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Mesenteric cyst, Parachute mitral valve, Prominent nose, Synophrys, Chiari type I malformation, G... |
OMIM:618316 |
Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Tented upper lip vermilion, Short neck, Micrognathia, Orofacial cleft, Pectu... |
ORPHA:1507 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Sotos Syndrome |
|
Mandibular prognathia, Accelerated skeletal maturation, High, narrow palate, Partial agenesis of ... |
OMIM:117550 |
Helsmoortel-Van Der Aa Syndrome |
|
Decreased response to growth hormone stimulation test, High, narrow palate, Pineal cyst, Enuresis... |
OMIM:615873 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Cerebellar vermis hypoplasia, Single transverse palmar crease, Micromelia, Prominent nose, Short ... |
OMIM:210710 |
Jacobsen Syndrome |
|
Short neck, Abnormal form of the vertebral bodies, Microcornea, Agenesis of corpus callosum, Broa... |
ORPHA:2308 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Cerebellar vermis hypoplasia, Congenital diaphragmatic hernia, Micrognathia, 2-3 toe cutaneous sy... |
OMIM:618454 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Congenital diaphragmatic hernia, Short neck, Polyhydramnios, Proximal placem... |
ORPHA:818 |
Pallister-Hall Syndrome |
|
Adrenal hypoplasia, Ectopic kidney, Depressed nasal ridge, Gonadotropin deficiency, Hemivertebrae... |
ORPHA:672 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Skeletal muscle atrophy, Hypoplasia of penis, Multiple pterygia, Micrognathia, Symphalangism affe... |
ORPHA:2990 |
Charge Syndrome |
|
Polyhydramnios, Aqueductal stenosis, Abnormal tibia morphology, Hemivertebrae, Hypoplasia of the ... |
ORPHA:138 |
Wolf-Hirschhorn Syndrome |
|
Hypoplastic pubic ramus, Congenital diaphragmatic hernia, Sclerocornea, Micrognathia, Abnormal fo... |
ORPHA:280 |
Smith-Lemli-Opitz Syndrome |
|
Dental crowding, Micromelia, Proximal placement of thumb, Facial capillary hemangioma, Micrognath... |
OMIM:270400 |
Lowry-Maclean Syndrome |
|
Osteopenia, Single transverse palmar crease, Congenital diaphragmatic hernia, Micrognathia, Bilat... |
ORPHA:2409 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Osteopenia, Dental crowding, Synophrys, High palate, Clinodactyly of the 5th finger, Conductive h... |
OMIM:617877 |
Acrofacial Dysostosis 1, Nager Type |
|
Subglottic stenosis, Aplasia/Hypoplasia of the thumb, Sparse lower eyelashes, Congenital diaphrag... |
OMIM:154400 |
Alg12-Cdg |
|
Polyhydramnios, Proximal placement of thumb, Micrognathia, Edema, Abnormal peripheral nervous sys... |
ORPHA:79324 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Micrognathia, High, narrow palate, Large iliac wing, Conductive hearing impairment, Spina bifida ... |
ORPHA:2780 |
1P36 Deletion Syndrome |
|
Hypoplasia of penis, Abnormality of the spleen, Depressed nasal ridge, Renal cyst, Abnormality of... |
ORPHA:1606 |
Short-Rib Thoracic Dysplasia 12 |
|
Polyhydramnios, Short neck, Bowing of the legs, Edema, Lobulated tongue, Thoracic dysplasia, Holo... |
OMIM:269860 |
Recombinant Chromosome 8 Syndrome |
|
Micrognathia, Downturned corners of mouth, Atrial septal defect, Clinodactyly of the 5th finger, ... |
OMIM:179613 |
Zttk Syndrome |
|
Unilateral lung agenesis, Hypoplasia of the maxilla, Flexion contracture, Hemivertebrae, Protrudi... |
OMIM:617140 |
Femoral-Facial Syndrome |
|
Maternal diabetes, Micrognathia, Coxa vara, Sprengel anomaly, Orofacial cleft, Vertebral segmenta... |
ORPHA:1988 |
Cooper-Jabs Syndrome |
|
Low-set, posteriorly rotated ears, Anteverted nares, Camptodactyly of finger, Congenital diaphrag... |
ORPHA:1488 |
Ritscher-Schinzel Syndrome 1 |
|
Decreased response to growth hormone stimulation test, Adrenal hypoplasia, Micrognathia, Hemivert... |
OMIM:220210 |
Monosomy 22 |
|
Single transverse palmar crease, Short neck, Synophrys, High palate, Clinodactyly of the 5th fing... |
ORPHA:96123 |
Lateral Meningocele Syndrome |
|
Dental crowding, Short neck, Micrognathia, High, narrow palate, Abnormal form of the vertebral bo... |
ORPHA:2789 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Abnormal intervertebral disk morphology, Congenital diaphragmatic hernia, Short neck, Abnormal fo... |
ORPHA:2311 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Cerebellar vermis hypoplasia, Edema of the dorsum of feet, Facial capillary... |
OMIM:274000 |
Charge Syndrome |
|
Decreased response to growth hormone stimulation test, Polyhydramnios, Abnormal palmar dermatogly... |
OMIM:214800 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Distal Deletion 10Q |
|
Single transverse palmar crease, Prominent nose, Micrognathia, 2-3 toe cutaneous syndactyly, Clin... |
ORPHA:96148 |
Doors Syndrome |
|
Adrenal hyperplasia, Abnormal placental membrane morphology, Short lingual frenulum, Polyhydramni... |
ORPHA:79500 |
Kleefstra Syndrome |
|
Mandibular prognathia, Hypoplasia of penis, Tented upper lip vermilion, Bicuspid aortic valve, Sy... |
ORPHA:261494 |
Toriello-Carey Syndrome |
|
Short neck, Micrognathia, Partial agenesis of the corpus callosum, Clinodactyly, Anteriorly place... |
ORPHA:3338 |
Wolf-Hirschhorn Syndrome |
|
Decreased muscle mass, Single transverse palmar crease, Micrognathia, Abnormal form of the verteb... |
OMIM:194190 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Dental crowding, Single transverse palmar crease, Multip... |
OMIM:619503 |
Ogden Syndrome |
|
Congenital hip dislocation, Protruding ear, Microretrognathia, Global glomerulosclerosis, Short s... |
OMIM:300855 |
Gombo Syndrome |
|
Microphthalmia, Abnormal heart morphology |
OMIM:233270 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Edema, Short neck, Protein-losing enteropathy, Neonatal death, Hypothyroidism, Hepatomegaly, Cryp... |
OMIM:608104 |
Immune Thrombocytopenia |
|
Thrombocytopenia |
OMIM:188030 |
Sandestig-Stefanova Syndrome |
|
Short neck, Orofacial cleft, High palate, Sparse medial eyebrow, Bilateral single transverse palm... |
OMIM:618804 |
Johnson Neuroectodermal Syndrome |
|
Absent eyebrow, Alopecia, Severe short stature, Choanal atresia, Facial palsy, Carious teeth, Pre... |
ORPHA:2316 |
Triploidy |
|
Hypoplasia of penis, Polyhydramnios, Short neck, Micrognathia, Holoprosencephaly, Narrow chest, D... |
ORPHA:3376 |
Apert Syndrome |
|
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Micromelia, Hypoplasia of the maxilla, Ve... |
ORPHA:87 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Joint laxity, Limited elbow extension and supination, Brachydactyly, Atrial septal defect, Truncu... |
ORPHA:401935 |
Distal 22Q11.2 Microdeletion Syndrome |
|
High, narrow palate, Neoplasm, Short palm, Clinodactyly of the 5th finger, Atrial septal defect, ... |
ORPHA:261330 |
Distal Monosomy 7Q36 |
|
Hypoplasia of penis, Short stature, Short neck, Pectus excavatum, Cryptorchidism, Bulbous nose, N... |
ORPHA:1636 |
Thrombocytopenia 2 |
|
Leukocytosis, Thrombocytopenia |
OMIM:188000 |
Kaufman Oculocerebrofacial Syndrome |
|
Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Microcornea, High pala... |
OMIM:244450 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Micrognathia, Coloboma, Congenital contracture, Hypoplasia of the brains... |
OMIM:236670 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Depressed nasal bridge, Choanal atresia, Posteriorly rotated ears, Bicus... |
ORPHA:284169 |
Septopreoptic Holoprosencephaly |
|
Abnormal midbrain morphology, Precocious puberty, Hypoplasia of the pons, Rhombencephalosynapsis,... |
ORPHA:280195 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Bicuspid aortic valve, Ectopic kidney, Synophrys, Depressed nasal ridge, Abnormal lung lobation, ... |
OMIM:607872 |
Opitz Gbbb Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, Vertebral segmentation defect, High palate, Atrial... |
ORPHA:2745 |
Orofaciodigital Syndrome Vi |
|
Cerebellar vermis hypoplasia, Micrognathia, Tibial bowing, Lobulated tongue, High palate, Conduct... |
OMIM:277170 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Ventricular septal defect, Short neck, Underdeveloped nasal alae, High, narrow palate, Joint stif... |
ORPHA:2516 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Sacral dimple, Posteriorly rotated ears, Single transverse palmar crease, Short stature, Cryptorc... |
OMIM:615502 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Polyhydramnios, Short neck, Deep philtrum, Pectus carinatum, Chiari type I malformation, Coarse h... |
OMIM:617506 |
Robinow Syndrome |
|
Dental crowding, Micrognathia, Pulmonary valve atresia, Hemivertebrae, Orofacial cleft, Atrial se... |
ORPHA:97360 |
Rabson-Mendenhall Syndrome |
|
Mandibular prognathia, Dental crowding, Fasting hyperinsulinemia, Low anterior hairline, Prematur... |
ORPHA:769 |
Trisomy 18 |
|
Congenital diaphragmatic hernia, Microcornea, Pointed helix, Holoprosencephaly, Atrial septal def... |
ORPHA:3380 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Decreased response to growth hormone stimulation test, P... |
OMIM:213980 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Short stature, Ventricular septal defect, Congenital diaphragmatic hernia, Joint stiffness, Micro... |
ORPHA:1166 |
Pseudotrisomy 13 Syndrome |
|
Adrenal hypoplasia, Hemivertebrae, Holoprosencephaly, Atrial septal defect, Micropenis, Agenesis ... |
OMIM:264480 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Synophrys, Interhypothalamic adhesion, High palate, Short philtrum, Thickened helices, Atrioventr... |
OMIM:618929 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Long nose, Atrial septal defect, Micropenis, Thick upper lip vermilion, Hypospadias, Patent ductu... |
ORPHA:363444 |
16P13.11 Microdeletion Syndrome |
|
Gastroesophageal reflux, Holoprosencephaly, Atrial septal defect, Agenesis of corpus callosum, De... |
ORPHA:261236 |
Craniofaciofrontodigital Syndrome |
|
Osteopenia, Bicuspid aortic valve, Polyhydramnios, Abnormal cerebral vascular morphology, Cardiom... |
ORPHA:363705 |
Diamond-Blackfan Anemia 7 |
|
Osteopenia, Polyhydramnios, Secundum atrial septal defect, Triphalangeal thumb, Neutropenia, Vesi... |
OMIM:612562 |
Mosaic Variegated Aneuploidy Syndrome |
|
Polyhydramnios, Micrognathia, Depressed nasal ridge, Abnormal lung lobation, Neoplasm, Holoprosen... |
ORPHA:1052 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteopenia, Arthropathy, Bicuspid aortic valve, Premature thelarche, Abnormal hand morphology, Os... |
ORPHA:371428 |
Thanatophoric Dysplasia Type 2 |
|
Polyhydramnios, Micromelia, Holoprosencephaly, Narrow chest, Atrial septal defect, Encephalocele,... |
ORPHA:93274 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Reduced circu... |
ORPHA:226307 |
Chromosome 9P Deletion Syndrome |
|
Short neck, Micrognathia, High, narrow palate, Deep philtrum, High palate, Atrial septal defect, ... |
OMIM:158170 |
Phaver Syndrome |
|
Abnormal form of the vertebral bodies, Triphalangeal thumb, Conductive hearing impairment, Pulmon... |
ORPHA:2876 |
Van Maldergem Syndrome 2 |
|
Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi... |
OMIM:615546 |
Mullegama-Klein-Martinez Syndrome |
|
Congenital diaphragmatic hernia, Prominent nose, Micrognathia, Low anterior hairline, Short philt... |
OMIM:301022 |
Mycophenolate Mofetil Embryopathy |
|
Congenital diaphragmatic hernia, Micrognathia, Ectopic kidney, Hydrops fetalis, Orofacial cleft, ... |
ORPHA:268249 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Tented upper lip vermilion, Peripheral retinal avascularization, Single tr... |
ORPHA:96334 |
Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Tented upper lip vermilion, Dental crowding, Short neck, Micrognathia, Clinodactyly, Hemivertebra... |
OMIM:268310 |
Schinzel-Giedion Syndrome |
|
Abnormal clavicle morphology, Short neck, Micrognathia, Abnormality of the gingiva, Renal cyst, T... |
ORPHA:798 |
Aminopterin/Methotrexate Embryofetopathy |
|
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Micromelia, Micrognathia, Holoprosencepha... |
ORPHA:1908 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Anophthalmia, Bilateral microphthalmos |
OMIM:611638 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Cerebellar atrophy, Microretrognathia, Wide nose, Rocker bottom foot, Abnormal retinal morphology... |
ORPHA:89844 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Tented upper lip vermilion, Congenital diaphragmatic hernia, Deep philtrum, Vertebral segmentatio... |
OMIM:612530 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Decreased response to growth hormone stimulation test, Single transverse palmar crease, Micrognat... |
OMIM:614114 |
Aicardi Syndrome |
|
Cerebellar vermis hypoplasia, Proximal placement of thumb, Chorioretinal lacunae, Partial agenesi... |
OMIM:304050 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Dental crowding, Congenital diaphragmatic hernia, Long nose, Downturned corners of mouth, High pa... |
OMIM:617602 |
Halperin-Birk Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, Gastroesophageal reflux, High... |
OMIM:618651 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Delayed eruption of teeth, Wolff-Parkinson-White syndrome, Underdeveloped superior crus of antihe... |
ORPHA:369950 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Low-set, posteriorly rotated ears, Brachydactyly, Short stature, Ventricular septal defect, Abnor... |
ORPHA:1770 |
Alg3-Cdg |
|
Abnormality of the gastrointestinal tract, Osteopenia, Cataract, Abnormal pinna morphology, Abnor... |
ORPHA:79321 |
Neu-Laxova Syndrome 1 |
|
Polyhydramnios, Short neck, Fetal akinesia sequence, Micromelia, Swollen lip, Calcaneovalgus defo... |
OMIM:256520 |
Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Red... |
OMIM:619130 |
Hyperaldosteronism, Familial, Type I |
|
Adrenal hyperplasia, Adrenogenital syndrome, Hypertension, Hyperaldosteronism, Decreased circulat... |
OMIM:103900 |
Meier-Gorlin Syndrome 1 |
|
Genu recurvatum, Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, Flexion contract... |
OMIM:224690 |
Kapur-Toriello Syndrome |
|
Hypoplasia of penis, Posteriorly rotated ears, Intestinal malrotation, Ventricular septal defect,... |
ORPHA:2328 |
Microform Holoprosencephaly |
|
Hypoplasia of penis, Tented upper lip vermilion, Maternal diabetes, Orofacial cleft, Short philtr... |
ORPHA:280200 |
Cornelia De Lange Syndrome |
|
Hypoplasia of penis, Congenital diaphragmatic hernia, Short neck, Micromelia, Proximal placement ... |
ORPHA:199 |
Lateral Meningocele Syndrome |
|
Decreased muscle mass, Bicuspid aortic valve, Dental crowding, Short neck, Micrognathia, Chiari t... |
OMIM:130720 |
Transaldolase Deficiency |
|
Short neck, Deep philtrum, Synophrys, Hepatic fibrosis, Short philtrum, Atrial septal defect, Pat... |
OMIM:606003 |
Sifrim-Hitz-Weiss Syndrome |
|
Anteriorly placed anus, Atrial septal defect, Vesicoureteral reflux, Micropenis, Bifid uvula, Hyp... |
OMIM:617159 |
Arnold-Chiari Malformation Type I |
|
Stiff neck, Urinary incontinence, Areflexia of upper limbs, Cranial nerve compression, Chiari typ... |
ORPHA:268882 |
Double Outlet Right Ventricle |
|
Hypoparathyroidism, Tachycardia, Depressed nasal bridge, Intestinal malrotation, Short stature, V... |
ORPHA:3426 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hypertension, Thrombocytopenia |
OMIM:166990 |
Cranioectodermal Dysplasia 2 |
|
Cholangitis, Polyhydramnios, Short neck, Micrognathia, Hydrops fetalis, Renal cyst, Fused teeth, ... |
OMIM:613610 |
Myhre Syndrome |
|
Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Short philtrum, Hypoplastic iliac w... |
OMIM:139210 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Acrocardiofacial Syndrome |
|
Joint dislocation, Hypoplasia of penis, Atrial septal defect, Finger syndactyly, Hyperthyroidism,... |
ORPHA:2008 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Polyhydramnios, Parachute mitral valve, Asplenia, Micrognathia, Abnormal l... |
OMIM:265380 |
Snijders Blok-Campeau Syndrome |
|
Joint laxity, Atrial septal defect, Inguinal hernia, Prominent nose, Wide nasal bridge, Astigmati... |
OMIM:618205 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bicuspid aortic valve, Congenital diaphragmatic hernia, Proximal placement of thumb, Abnormal lun... |
ORPHA:1120 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Anteriorly placed anus, Choanal stenosis, High palate, Agenesis of corpus callosum, Bifid uvula, ... |
OMIM:123790 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Joint dislocation, Hepatomegaly, Recurrent respiratory infections, Short stature, Ventricular sep... |
OMIM:620210 |
Cenani-Lenz Syndrome |
|
Micromelia, High, narrow palate, Abnormal form of the vertebral bodies, Protruding ear, Foot olig... |
ORPHA:3258 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Mandibular prognathia, Absent frontal sinuses, Hemivertebrae, Widely-spaced maxillary central inc... |
OMIM:301040 |
Isolated Klippel-Feil Syndrome |
|
Congenital muscular torticollis, Ventricular septal defect, Spina bifida, Short neck, Abnormal sa... |
ORPHA:2345 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Selective tooth agenesis, Conical tooth, Hypoplasia of the maxilla, Conjunctivitis, Widely spaced... |
OMIM:106260 |
Baller-Gerold Syndrome |
|
Limited elbow movement, Micrognathia, Patellar hypoplasia, Anteriorly placed anus, Choanal stenos... |
OMIM:218600 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Aplasia/Hypoplasia of the thumb, Maternal diabetes, Orofacial cleft, Triphalangeal thumb, Vesicou... |
ORPHA:2549 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Atrial septal defect, Short stature, Absent tragus, Accessory oral frenulum, Micrognathia, Preaxi... |
ORPHA:79113 |
Mosaic Trisomy 16 |
|
Single transverse palmar crease, Maternal diabetes, Abnormal lung morphology, Anteriorly placed a... |
ORPHA:1708 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia, Neural tube defect |
OMIM:600776 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Atrial septal defect, Wide nose, Thin upper lip vermilion, Abnormal nasal bone morphology, Choana... |
ORPHA:521308 |
Microphthalmia, Syndromic 9 |
|
Congenital diaphragmatic hernia, Micrognathia, Agenesis of pulmonary vessels, Pulmonary artery at... |
OMIM:601186 |
Amegakaryocytic Thrombocytopenia, Congenital, 1 |
|
Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia |
OMIM:604498 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Micrognathia, Flexion c... |
OMIM:265000 |
Monosomy 18P |
|
Short neck, Micrognathia, Lymphedema, Protruding ear, Downturned corners of mouth, Enlarged thora... |
ORPHA:1598 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Polyhydramnios, Bilateral cryptorchidism, Clinodactyly of the 5th finger, Dilated third ventricle... |
ORPHA:544488 |
Aarskog-Scott Syndrome |
|
Genu recurvatum, Single transverse palmar crease, Short neck, Hypoplasia of the maxilla, Orofacia... |
ORPHA:915 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Single transverse palmar crease, Micrognathia, Prelingual sensorineural hearing impairment, Low a... |
ORPHA:73272 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Tented upper lip vermilion, Secundum atrial septal defect, Gastroesophageal reflux, Atrial septal... |
OMIM:600987 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Cerebellar vermis hypoplasia, Urinary incontinence, Polyhydramnios, Micrognathia, Downturned corn... |
OMIM:620070 |
Diabetic Embryopathy |
|
Ureteral duplication, Micrognathia, Vertebral segmentation defect, Aplasia/Hypoplasia of the cere... |
ORPHA:1926 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Skeletal muscle atrophy, Short neck, Secundum atrial septal defect, Micrognathia, Low anterior ha... |
OMIM:608779 |
Jacobsen Syndrome |
|
Short neck, Micrognathia, Flexion contracture, Microcornea, Holoprosencephaly, Chorioretinal colo... |
OMIM:147791 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Unilateral lung agenesis, Hypoplasia of the maxilla, Gastrointestinal dysmotility, Hemivertebrae,... |
ORPHA:500150 |
Koolen-De Vries Syndrome |
|
Bicuspid aortic valve, Anteverted ears, High palate, Widely spaced teeth, Prominent fingertip pad... |
OMIM:610443 |
Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, Short neck, Micrognathia, Hypoplasia of the ma... |
OMIM:201000 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Single transverse palmar crease, Synophrys, Hemivertebrae, Coxa vara, Pectus carinatum, Gastroeso... |
OMIM:614701 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Bicuspid aortic valve, Dental crowding, Polyhydramnios, Micrognathia, Abnormal curvature of the v... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Bicuspid aortic valve, Dental crowding, Polyhydramnios, Micrognathia, Abnormal curvature of the v... |
ORPHA:353277 |
Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia, Ventricular septal defect, Hypoplastic left atrium |
OMIM:615524 |
Fanconi Anemia, Complementation Group B |
|
Aplastic anemia, Optic disc hypoplasia, Short neck, Abnormal lung lobation, Micropenis, Abnormal ... |
OMIM:300514 |
Kabuki Syndrome 2 |
|
Micrognathia, Protruding ear, High palate, Prominent fingertip pads, Atrial septal defect, Atriov... |
OMIM:300867 |
Neurooculorenal Syndrome |
|
Subglottic stenosis, Decreased circulating cortisol level, Ectopic posterior pituitary, Cerebella... |
OMIM:620305 |
Microphthalmia, Syndromic 3 |
|
Anterior pituitary hypoplasia, Sclerocornea, Hemivertebrae, Coloboma, Micropenis, Agenesis of cor... |
OMIM:206900 |
Restrictive Dermopathy |
|
Osteopenia, Ureteral duplication, Multiple joint contractures, Premature delivery because of cerv... |
ORPHA:1662 |
D-Bifunctional Protein Deficiency |
|
Osteopenia, Decreased muscle mass, Polyhydramnios, Fetal ascites, Micrognathia, Renal cyst, High ... |
OMIM:261515 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Hypoplasia of penis, Synophrys, Conotruncal defect, Downturned corners of mouth, Vesicoureteral r... |
ORPHA:96147 |
Kabuki Syndrome |
|
Hypoplasia of penis, Congenital diaphragmatic hernia, Hemivertebrae, Abnormal form of the vertebr... |
ORPHA:2322 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Micrognathia, Proximal femoral metaphyseal... |
ORPHA:397715 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Broad nasal tip, Cleft upper lip, Narrow mouth, Micrognathia, Ectopic kidney, 2-3 toe syndactyly,... |
OMIM:239800 |
14Q22Q23 Microdeletion Syndrome |
|
Anterior pituitary hypoplasia, Adrenal hypoplasia, Micrognathia, Downturned corners of mouth, Sho... |
ORPHA:264200 |
Aicardi Syndrome |
|
Partial agenesis of the corpus callosum, Protruding ear, Multiple lipomas, Gastroesophageal reflu... |
ORPHA:50 |
Catel-Manzke Syndrome |
|
Joint dislocation, Single transverse palmar crease, Short neck, Micrognathia, Pectus carinatum, G... |
OMIM:616145 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Mandibular prognathia, Bicuspid aortic valve, Single transverse palmar crease, Prominent nose, Sh... |
OMIM:612474 |
Holoprosencephaly 5 |
|
Depressed nasal bridge, Anteverted nares, Central diabetes insipidus, Alobar holoprosencephaly, S... |
OMIM:609637 |
Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Micrognathia, Abnormal aortic arch morphology, Conotruncal defect, Anotia,... |
ORPHA:2306 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Dental crowding, Prominent nose, Cardiomegaly, High, narrow palate, Pineal cyst, Gastroesophageal... |
OMIM:300967 |
Van Maldergem Syndrome 1 |
|
Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi... |
OMIM:601390 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Osteopenia, Anterior pituitary hypoplasia, Polyhydramnios, Edema, Aqueductal stenosis, Secundum a... |
OMIM:619534 |
Cardiospondylocarpofacial Syndrome |
|
Congenital diaphragmatic hernia, Pseudoepiphyses, Gastroesophageal reflux, Conductive hearing imp... |
OMIM:157800 |
Otofaciocervical Syndrome |
|
Abnormal clavicle morphology, Scapular winging, Depressed nasal bridge, Anteverted nares, Down-sl... |
ORPHA:2792 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Bicuspid aortic valve, Myocardial infarction, Short neck, Micrognathia, High, narrow ... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Osteopenia, Bicuspid aortic valve, Myocardial infarction, Short neck, Micrognathia, High, narrow ... |
ORPHA:99228 |
Monosomy X |
|
Osteopenia, Bicuspid aortic valve, Myocardial infarction, Short neck, Micrognathia, High, narrow ... |
ORPHA:99226 |
Turner Syndrome |
|
Osteopenia, Bicuspid aortic valve, Myocardial infarction, Short neck, Micrognathia, High, narrow ... |
ORPHA:881 |
Heterotaxy, Visceral, 1, X-Linked |
|
Congenital hip dislocation, Polyhydramnios, Cardiomegaly, Asplenia, Aqueductal stenosis, Biliary ... |
OMIM:306955 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Bicuspid aortic valve, Atrial septal defect, Patent foramen ovale, Foot dorsiflexor weakness, Joi... |
ORPHA:477817 |
Kbg Syndrome |
|
Persistent open anterior fontanelle, Single transverse palmar crease, Short neck, Congenital malf... |
ORPHA:2332 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia involving the nose, Hypoplasia of penis, Cy... |
ORPHA:990 |
Peters Plus Syndrome |
|
Ureteral duplication, Polyhydramnios, Short neck, Micromelia, Micrognathia, Bicuspid pulmonary va... |
ORPHA:709 |
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Dental crowding, Microcornea, Chiari type I malformation, Bifid uvula, Syndactyly, Agenesis of ce... |
ORPHA:261552 |
Greenberg Dysplasia |
|
Polyhydramnios, Micromelia, Beaded ribs, Multiple prenatal fractures, Patchy variation in bone mi... |
OMIM:215140 |
7Q31 Microdeletion Syndrome |
|
Skeletal muscle atrophy, Prominent nose, Hypoplasia of the maxilla, Enuresis nocturna, Hypoplasia... |
ORPHA:251061 |
Lambotte Syndrome |
|
Ventricular septal defect, Retrognathia, Intrauterine growth retardation, Atresia of the external... |
OMIM:245552 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Bicuspid aortic valve, Dental crowding, Abnormal curvature of the vertebral column, Coloboma, Neo... |
ORPHA:353281 |
Distal Deletion 15Q |
|
Bicuspid aortic valve, Single transverse palmar crease, Congenital diaphragmatic hernia, Microgna... |
ORPHA:1596 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Enlarged joints, Short stature, Pectus excavatum, Delayed epiphyseal ossification, Wide nasal bri... |
ORPHA:166024 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia |
ORPHA:231393 |
Preeclampsia/Eclampsia 1 |
|
Hypertension, Thrombocytopenia |
OMIM:189800 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Premature rupture of membranes, Hepatic fibrosis, Atri... |
OMIM:301068 |
Distal Deletion 13Q |
|
Encephalocele, Aplasia/Hypoplasia of the thumb, Short stature, Abnormality of the hand, Primary a... |
ORPHA:1590 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Micrognathia, High palate, Narrow greater sciatic notch, Conductive hearing impairment, Joint con... |
OMIM:602471 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Polyhydramnios, Short neck, Asplenia, Micromelia, Micrognathia, Hemivertebra... |
ORPHA:99776 |
Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Platelet anisocytosis, Epistaxis, Increased mean platelet volume |
OMIM:615193 |
Fetal Akinesia Deformation Sequence 1 |
|
Decreased muscle mass, Elbow contracture, Polyhydramnios, Short neck, Fetal akinesia sequence, Hi... |
OMIM:208150 |
Nicolaides-Baraitser Syndrome |
|
Dry hair, Enlarged joints, Short lingual frenulum, Single transverse palmar crease, High, narrow ... |
OMIM:601358 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Syndactyly, Inguinal hernia, Hypospadias, Micrognathia, Postnatal growth retardation, Cryptorchid... |
ORPHA:397590 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Partial agenesis of the corpus callosum, Gastroesophageal reflux, Thickened helices, Atrioventric... |
OMIM:619480 |
Floating-Harbor Syndrome |
|
Prominent nose, Short neck, Short middle phalanx of the 2nd finger, Glandular hypospadias, Downtu... |
OMIM:136140 |
49,Xxxxy Syndrome |
|
Mandibular prognathia, Hypoplasia of penis, Pulmonary embolism, Short neck, Depressed nasal ridge... |
ORPHA:96264 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Tented upper lip vermilion, Posteriorly rotated ears, Prominent nasal bridge, Sandal gap, Short s... |
OMIM:618885 |
Orofaciodigital Syndrome Xiv |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Micrognathia, Epispadias, Partial agenesis... |
OMIM:615948 |
Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Tarsal synostosis, Micrognathia, Cryptorchidism, Abnormality of the parathyroi... |
ORPHA:3429 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Uplifted earlobe, Palmoplantar hyperkeratosis, Short philtrum, Widely spaced teeth, Chorioretinal... |
OMIM:280000 |
Noonan Syndrome |
|
Micrognathia, Lymphedema, Abnormality of the spleen, Pectus carinatum, Enlarged thorax, Coarse ha... |
ORPHA:648 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Micrognathia, Abnormality of the gingiva, Osteopathia striata, Pineal cyst, Gastroesophageal refl... |
ORPHA:513456 |
Gm1 Gangliosidosis |
|
Mandibular prognathia, Depressed nasal ridge, Hydrops fetalis, Abnormal form of the vertebral bod... |
ORPHA:354 |
Trisomy 13 |
|
High, narrow palate, Abnormal lung lobation, Hydrops fetalis, Narrow chest, Capillary hemangioma,... |
ORPHA:3378 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
Fraser Syndrome 1 |
|
Subglottic stenosis, Aplasia/Hypoplasia of the thumb, Laryngeal stenosis, Cleft ala nasi, Dental ... |
OMIM:219000 |
Benign Schwannoma |
|
Intestinal polyposis, Nasal polyposis, Facial palsy, Hearing abnormality, Vertigo, Schwannoma, Pe... |
ORPHA:252164 |
Joubert Syndrome 14 |
|
Cerebellar vermis hypoplasia, Tented upper lip vermilion, Renal cyst, Intracranial hemorrhage, Co... |
OMIM:614424 |
Catel-Manzke Syndrome |
|
Micrognathia, Glossoptosis, Atrial septal defect, Clinodactyly of the 5th finger, Chronic otitis ... |
ORPHA:1388 |
Crouzon Syndrome |
|
Mandibular prognathia, Abnormality of the cervical spine, Dental crowding, Sagittal craniosynosto... |
OMIM:123500 |
Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Increased circulating cortisol level, Adrenal hyperplasia |
OMIM:614190 |
Monosomy 9P |
|
Congenital diaphragmatic hernia, Short neck, Proximal placement of thumb, Micrognathia, Synophrys... |
ORPHA:261112 |
Diamond-Blackfan Anemia 1 |
|
Short neck, Micrognathia, Depressed nasal ridge, Reticulocytopenia, Hypoplastic coccygeal vertebr... |
OMIM:105650 |
Blomstrand Lethal Chondrodysplasia |
|
Polyhydramnios, Accelerated skeletal maturation, Micrognathia, Hydrops fetalis, Narrow chest, Neo... |
ORPHA:50945 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Decreased fetal movement, Recurrent respiratory infections, Glue ear, Broad nasal tip, Bifid nasa... |
OMIM:619758 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the maxilla, High palate, Conductive hearing impai... |
ORPHA:1307 |
3C Syndrome |
|
Hypoplasia of penis, Adrenal hypoplasia, Short neck, Micrognathia, High, narrow palate, Hemiverte... |
ORPHA:7 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Skeletal muscle atrophy, Hypoplasia of the pyramidal tract, Flexion contracture, Hypoplasia of th... |
OMIM:253800 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Bicuspid aortic valve, Dental crowding, Upli... |
ORPHA:261537 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Single transverse palmar crease, Micrognathia, Protruding ear, High palate, Atrial septal defect,... |
ORPHA:3304 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Inguinal hernia, Micrognathia, Cryptorchidism, Patent ductus arteriosus, Delayed skeletal maturat... |
OMIM:614857 |
Cerebellar-Facial-Dental Syndrome |
|
Single transverse palmar crease, Short neck, Hypoplasia of the pons, Micrognathia, Hypoplasia of ... |
ORPHA:444072 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Smooth philtrum, Posteriorly rotated ears, Decreased response to growth hormone stimulation test,... |
OMIM:617260 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Pericardial effusion, Microphthalmia |
OMIM:613885 |
Bleeding Disorder, Platelet-Type, 19 |
|
Thrombocytopenia, Macrothrombocytopenia, Epistaxis, Anemia |
OMIM:616176 |
Slc35A2-Cdg |
|
Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Abnormal long bone mo... |
ORPHA:356961 |
Noonan Syndrome 2 |
|
Polyhydramnios, Short neck, Micrognathia, Pectus carinatum, Abnormal sternum morphology, High pal... |
OMIM:605275 |
Mowat-Wilson Syndrome |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Bicuspid aortic valve, Dental crowding, Upli... |
ORPHA:2152 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
17Q24.2 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Short neck, Micrognathia, Synophrys, Pinea... |
ORPHA:529962 |
Floating-Harbor Syndrome |
|
Enlarged joints, Short neck, Long nose, Hypoplasia of the maxilla, Renal cyst, Nephrocalcinosis, ... |
ORPHA:2044 |
Diamond-Blackfan Anemia |
|
Radial artery aplasia, Pure red cell aplasia, Short neck, Micrognathia, Low anterior hairline, Re... |
ORPHA:124 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Aplasia/Hypoplasia of the thumb, Orofacial cleft, Vertebral segmentation defect, Aplasia of the n... |
ORPHA:3186 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia, Edema, Intrauterine growth retardation |
OMIM:616570 |
Simpson-Golabi-Behmel Syndrome |
|
Mandibular prognathia, Bundle branch block, Ureteral duplication, Congenital hip dislocation, Hyp... |
ORPHA:373 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Wide nose, Short stature, Choanal atresia, Unilateral renal agenesis, Pectus excavatum, Esophagea... |
OMIM:619227 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Single transverse palmar crease, Prominent nose, Micrognathia, High palate, Short philtrum, Triph... |
OMIM:201170 |
Frontonasal Dysplasia 1 |
|
Frontal cutaneous lipoma, Hypoplasia of the maxilla, Pectoral muscle hypoplasia/aplasia, Widely-s... |
OMIM:136760 |
Esophageal Atresia |
|
Subglottic stenosis, Maternal diabetes, Polyhydramnios, Bronchitis, Gastrointestinal dysmotility,... |
ORPHA:1199 |
Platelet Signal Processing Defect |
|
Epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregat... |
OMIM:173590 |
Endocrine-Cerebroosteodysplasia |
|
Single transverse palmar crease, Adrenal hypoplasia, Polyhydramnios, Micromelia, Micrognathia, Pr... |
OMIM:612651 |
Visceral Neuropathy, Familial, 1, Autosomal Recessive |
|
Colonic diverticula, Aganglionic megacolon, Intestinal malrotation, Intestinal pseudo-obstruction... |
OMIM:243180 |
Oculoectodermal Syndrome |
|
Giant cell granuloma of mandible, Atrial septal defect, Depressed nasal bridge, Transient ischemi... |
OMIM:600268 |
Houge-Janssens Syndrome 3 |
|
Inguinal hernia, Single transverse palmar crease, Broad nasal tip, Muscular ventricular septal de... |
OMIM:618354 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
11 pairs of ribs, Hypoplasia of penis, Ventricular septal defect, Hypospadias, Sclerocornea, Cryp... |
ORPHA:77298 |
Joubert Syndrome With Ocular Defect |
|
Cerebellar vermis hypoplasia, Orofacial cleft, Molar tooth sign on MRI, Abnormality of the hypoth... |
ORPHA:220493 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Atrial septal defect, Cataract, Corneal opacity, Short stature, Ventricular septal ... |
ORPHA:290 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Atrial septal defect, Anteverted nares, Choanal atresia, Proximal placement of thumb, Short statu... |
OMIM:610536 |
Alagille Syndrome 1 |
|
Long nose, Multiple small medullary renal cysts, Hemivertebrae, Microcornea, Papillary thyroid ca... |
OMIM:118450 |
Bleeding Disorder, Platelet-Type, 16 |
|
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele... |
OMIM:187800 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
2-5 finger syndactyly, Multiple joint contractures, Hypoplasia of the pons, Knee flexion contract... |
ORPHA:468631 |
Digeorge Syndrome |
|
Sclerocornea, Micrognathia, High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morpholo... |
OMIM:188400 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Proximal placement of thumb, Alobar holoprosencephaly, Cryptorchidism, Kyphosis, High palate, Sho... |
OMIM:615433 |
Joubert Syndrome 18 |
|
Joint laxity, Occipital encephalocele, Trident pelvis, Bowing of the long bones, Agenesis of cere... |
OMIM:614815 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
Diamond-Blackfan Anemia 10 |
|
Congenital diaphragmatic hernia, Morgagni diaphragmatic hernia, Micrognathia, Ectopic kidney, Ret... |
OMIM:613309 |
Down Syndrome |
|
Prenatal double bubble sign, Single transverse palmar crease, Short palm, Hypoplastic iliac wing,... |
OMIM:190685 |
Pfeiffer Syndrome Type 2 |
|
Aqueductal stenosis, Deviation of the thumb, High palate, Finger syndactyly, Broad hallux phalanx... |
ORPHA:93259 |
Adams-Oliver Syndrome 4 |
|
Atrial septal defect, Microphthalmia, Umbilical hernia, Ventricular septal defect |
OMIM:615297 |
Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Thin upper lip vermilion, Short stature, Highly arched eyebrow, Underdeveloped nasal alae, Cleft ... |
OMIM:611867 |
Bartsocas-Papas Syndrome 1 |
|
Short neck, Bilateral cryptorchidism, Hypoplasia of the maxilla, Micrognathia, Flexion contractur... |
OMIM:263650 |
Marshall-Smith Syndrome |
|
Irregular dentition, Thoracic scoliosis, Brittle hair, Large sternal ossification centers, Accele... |
OMIM:602535 |
Microphthalmia, Syndromic 2 |
|
Anteverted ears, 2-3 toe cutaneous syndactyly, Flexion contracture, Microcornea, Oligodontia, Fus... |
OMIM:300166 |
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Narrow nasal bridge, Abnormal dental enamel morphology, Elbow dislocation, Fine hair, Aplasia/Hyp... |
ORPHA:3236 |
17Q11 Microdeletion Syndrome |
|
Osteopenia, Multiple mucosal neuromas, Brain neoplasm, Bowing of the legs, Abnormal internal caro... |
ORPHA:97685 |
Schwartz-Jampel Syndrome, Type 1 |
|
Skeletal muscle atrophy, Congenital hip dislocation, Cervical kyphosis, Micromelia, Short neck, B... |
OMIM:255800 |
Femoral-Facial Syndrome |
|
Short fourth metatarsal, Maternal diabetes, Limited elbow movement, Micrognathia, Hemivertebrae, ... |
OMIM:134780 |
Koolen-De Vries Syndrome |
|
Ureteral duplication, Bicuspid aortic valve, High, narrow palate, Protruding ear, Vertebral segme... |
ORPHA:96169 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Decreased fetal movement, Multiple joint contractures, Camptodactyly of finger, Abnormal pleura m... |
ORPHA:2570 |
Noonan Syndrome 10 |
|
Prominent corneal nerve fibers, Short neck, Pectus carinatum, High palate, Atrial septal defect, ... |
OMIM:616564 |
Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Ventricular septal defect, Mesomelic/rhizomelic limb shortening, Accelerate... |
ORPHA:1354 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Diffuse mesangial sclerosis, Severe B lymphocytopenia, Sinusitis, Hepatomegaly, B-cell lymphoma, ... |
OMIM:102700 |
Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
Fryns Syndrome |
|
Tented upper lip vermilion, Congenital diaphragmatic hernia, Short neck, Polyhydramnios, Microgna... |
ORPHA:2059 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... |
OMIM:263300 |
Kabuki Syndrome 1 |
|
Joint dislocation, Congenital hip dislocation, Premature thelarche, Micrognathia, Protruding ear,... |
OMIM:147920 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Ventricular septal defect, Unilateral renal agenesis, Underdeveloped nasal alae, Cleft palate, We... |
OMIM:601355 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral artery hypoplasia, Short neck, Hemivertebrae, Vertebral segmentation defect, Spina bifi... |
OMIM:613686 |
Al Amyloidosis |
|
Howell-Jolly bodies, Xerostomia, Abnormality of the liver, Abnormal salivary gland morphology, He... |
ORPHA:85443 |
Lethal Congenital Contracture Syndrome 10 |
|
Thoracic scoliosis, Stiff neck, Short neck, Fetal akinesia sequence, Cardiomegaly, Micrognathia, ... |
OMIM:617022 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, Eosinophilia, Spleno... |
OMIM:602450 |
Familial Hyperaldosteronism Type Ii |
|
Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal c... |
ORPHA:404 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Atrial septal defect, Multicystic kidney dysplasia, Dextrocardia, Congenital diaphragmatic hernia... |
ORPHA:261197 |
Microgastria-Limb Reduction Defect Syndrome |
|
Congenital muscular torticollis, Abnormality of the spleen, Abnormal finger morphology, Abnormal ... |
ORPHA:2538 |
Bor Syndrome |
|
Branchial cyst, Ureteropelvic junction obstruction, Multicystic kidney dysplasia, Renal insuffici... |
ORPHA:107 |
Ctcf-Related Neurodevelopmental Disorder |
|
Osteopenia, Single transverse palmar crease, Synophrys, Microcornea, Gastroesophageal reflux, Joi... |
ORPHA:363611 |
Coach Syndrome 1 |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Multiple small medullary renal cysts, Rena... |
OMIM:216360 |
Arachnoid Cyst |
|
Back pain, Urinary incontinence, Cranial nerve compression, Neoplasm, Holoprosencephaly, Sciatica... |
ORPHA:2356 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Prominent nose, Preaxial polydactyly, Renal cyst, Lobulated tongue, Narrow greater sciatic notch,... |
OMIM:616300 |
Braddock-Carey Syndrome 2 |
|
Bulbous nose, Pierre-Robin sequence, Cleft palate, Wide mouth, Atresia of the external auditory c... |
OMIM:619981 |
Nager Syndrome |
|
Aplasia/Hypoplasia of the thumb, Sparse lower eyelashes, Micrognathia, Hypoplasia of the maxilla,... |
ORPHA:245 |
Anencephaly 2 |
|
Anophthalmia, Anencephaly |
OMIM:619452 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Multiple joint dislo... |
ORPHA:536467 |
Dilated Cardiomyopathy With Ataxia |
|
Elevated hepatic transaminase, Prolonged QT interval, Hypoplasia of penis, Bilateral cryptorchidi... |
ORPHA:66634 |
Agnathia-Otocephaly Complex |
|
Wide nose, Polyhydramnios, Tracheomalacia, Secundum atrial septal defect, Situs inversus totalis,... |
OMIM:202650 |
Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Partial agenesis of the corpus callosum, Synophrys, Hypoplastic nasal s... |
OMIM:610828 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Polyhydramnios, Short neck, Beaded ribs, Cardiomegaly, Multiple prenatal fractures, F... |
OMIM:616897 |
Cornelia De Lange Syndrome 1 |
|
Single transverse palmar crease, Congenital diaphragmatic hernia, Short neck, Micromelia, High, n... |
OMIM:122470 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Thickened nuchal skin fold, Tethered cord, Abnormal number of hair whorls, Mitral atresia, Patent... |
OMIM:618164 |
Chromosome 13Q14 Deletion Syndrome |
|
Single transverse palmar crease, Micrognathia, Anteverted ears, Deep philtrum, High palate, Holop... |
OMIM:613884 |
Bilateral Perisylvian Polymicrogyria |
|
Cerebellar dysplasia, Ectopic posterior pituitary, Cerebellar vermis hypoplasia, Choanal atresia,... |
ORPHA:98889 |
16P13.11 Microduplication Syndrome |
|
Arachnodactyly, Ventricular septal defect, Craniosynostosis, Pectus excavatum, Coarctation of aor... |
ORPHA:261243 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Hypoplasia of penis, Adrenal hypoplasia, Polyhydramnios, Micrognathia, Abnormal lung lobation, Or... |
ORPHA:2166 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Omphalocele, Bilateral cleft palate, Short femur, Ventricular septal defect, Bilateral cleft lip,... |
OMIM:601357 |
Microcephaly-Micromelia Syndrome |
|
Micromelia, Short neck, Aqueductal stenosis, Micrognathia, Narrow chest, Neonatal death, Short ti... |
OMIM:251230 |
Otopalatodigital Syndrome Type 2 |
|
Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Narrow chest, Short palm, Abnormal... |
ORPHA:90652 |
Primary Ciliary Dyskinesia |
|
Atrial situs ambiguous, Asplenia, Conductive hearing impairment, Chronic otitis media, Abnormal a... |
ORPHA:244 |
Larsen Syndrome |
|
Cervical kyphosis, Short metatarsal, Pectus carinatum, Knee dislocation, Conductive hearing impai... |
OMIM:150250 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Cardiomegaly, Dysplastic corpus callosum, Cryptorchidism, Perimembranous ventricular... |
OMIM:620135 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, High, narrow ... |
ORPHA:464738 |
Brooke-Spiegler Syndrome |
|
Skin appendage neoplasm, Facial palsy, Salivary gland neoplasm, Abnormality of the auditory canal... |
ORPHA:79493 |
Fibular Hemimelia |
|
Bowing of the legs, Tibial bowing, Increased laxity of ankles, Foot oligodactyly, Abnormal bone o... |
ORPHA:93323 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Omphalocele, Abnormal clavicle morphology, Bowing of the long bones, Cataract, Rhizomelia, Ventri... |
ORPHA:93267 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Osteopenia, Bicuspid aortic valve, Gastrointestinal dysmotility, Downturned corners of mouth, Col... |
ORPHA:453499 |
Giant Cell Arteritis |
|
Gastrointestinal infarctions, Conductive hearing impairment, Abdominal aortic aneurysm, Alopecia,... |
ORPHA:397 |
Galloway-Mowat Syndrome 3 |
|
Diffuse mesangial sclerosis, Edema, Micrognathia, High palate, Arachnodactyly, Short stature, Hia... |
OMIM:617729 |
X-Linked Intellectual Disability, Nascimento Type |
|
Hypoplasia of the pons, Abnormal hair whorl, Deep philtrum, Synophrys, Downturned corners of mout... |
ORPHA:163956 |
Blau Syndrome |
|
Xerostomia, Large vessel vasculitis, Abnormal cranial nerve morphology, Abnormality of the liver,... |
ORPHA:90340 |
Viss Syndrome |
|
Chronic gastritis, Epidural hemorrhage, Tortuous cerebral arteries, Polyhydramnios, Micrognathia,... |
OMIM:619472 |
Ring Chromosome 21 Syndrome |
|
Fused thoracic vertebrae, Syndactyly, Short stature, Abnormal thorax morphology, Small hand, Narr... |
ORPHA:1445 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Aplasia of the thymus, Short stature, Split hand, Vertebral segmentation defect, Foot polydactyly... |
ORPHA:3004 |
Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension... |
ORPHA:403 |
Yuan-Harel-Lupski Syndrome |
|
Joint laxity, Thin upper lip vermilion, Wide nose, Sandal gap, Bicuspid aortic valve, Ventricular... |
OMIM:616652 |
Wrinkly Skin Syndrome |
|
Osteopenia, Congenital hip dislocation, Coxa vara, Premature rupture of membranes, High palate, M... |
OMIM:278250 |
Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Orbital encephalocele, Anophthalmia |
OMIM:164180 |
Frank-Ter Haar Syndrome |
|
Osteopenia, Anterior concavity of thoracic vertebrae, Micrognathia, Secundum atrial septal defect... |
OMIM:249420 |
Familial Thyroid Dyshormonogenesis |
|
Positive perchlorate discharge test, Depressed nasal bridge, Thyroid defect in oxidation and orga... |
ORPHA:95716 |
Joubert Syndrome With Renal Defect |
|
Low-set, posteriorly rotated ears, Encephalocele, Renal insufficiency, Cerebellar vermis hypoplas... |
ORPHA:220497 |
Hemangioma-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Ventricular arrhythmia |
OMIM:141000 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Recurrent respiratory infections, Severe short stature, Anteverted nares, Short neck, Hyperlordos... |
ORPHA:1797 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Micrognathia, Hypoplasia of the maxilla, Ectopic kidney, Hemivertebrae, ... |
OMIM:164210 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Thickened ribs, Flexion contracture, Increased size of nasopharyngeal adenoids, Abnormal tricuspi... |
ORPHA:217085 |
Adams-Oliver Syndrome 6 |
|
Syndactyly, Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Splenomegaly... |
OMIM:616589 |
Congenital Disorder Of Glycosylation, Type It |
|
Cardiomegaly, Micrognathia, Hepatic steatosis, Bifid uvula, Hepatomegaly, Short stature, Elevated... |
OMIM:614921 |
Pallister-Killian Syndrome |
|
Congenital hip dislocation, Tented upper lip vermilion, Single transverse palmar crease, Congenit... |
OMIM:601803 |
Phace Syndrome |
|
Sclerocornea, Cerebral arteriovenous malformation, Lens coloboma, Abnormal sternum morphology, Ca... |
ORPHA:42775 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Thickened ribs, Flexion contracture, Increased size of nasopharyngeal adenoids, Abnormal tricuspi... |
ORPHA:217093 |
Focal Dermal Hypoplasia |
|
Acute hepatic failure, Abnormal palmar dermatoglyphics, Congenital diaphragmatic hernia, Hypoplas... |
ORPHA:2092 |
Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Enlarged joints, Fetal akinesia sequence, Flexion contrac... |
OMIM:156530 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Osteopenia, Intestinal pseudo-obstruction, Bicuspid aortic valve, High, narrow palate, Gastrointe... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Osteopenia, Intestinal pseudo-obstruction, Bicuspid aortic valve, High, narrow palate, Gastrointe... |
ORPHA:352665 |
Multiple Synostoses Syndrome 1 |
|
Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... |
OMIM:186500 |
Giant platelet syndrome with thrombocytopenia |
|
Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia |
OMIM:137560 |
Trichohepatoenteric Syndrome 1 |
|
Villous atrophy, Brittle hair, Polyhydramnios, Depressed nasal ridge, Hepatic fibrosis, Sparse ha... |
OMIM:222470 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Atrial septal defect, Bowing of the long bones, Agenesis of cerebellar vermis, Ven... |
OMIM:611134 |
Orofaciodigital Syndrome Xv |
|
Cerebellar vermis hypoplasia, Anteverted nares, Broad hallux, Postaxial hand polydactyly, Duplica... |
OMIM:617127 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent infection of the gastrointestinal tract, Decreased proportion of naive T cells, Aplasia... |
ORPHA:83471 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal coronary artery morphology, Cardiac shunt, Maternal diabetes, Cardiomegaly, Abnormal aor... |
ORPHA:860 |
Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Alobar holoprosencephaly, Micrognathia, Gastroesophageal reflux, Aplasia o... |
OMIM:301043 |
Fumarase Deficiency |
|
Necrotizing enterocolitis, Bilateral fetal pyelectasis, Anteverted nares, Depressed nasal bridge,... |
OMIM:606812 |
Branchiootorenal Syndrome 1 |
|
Branchial cyst, Congenital hip dislocation, High palate, Conductive hearing impairment, Microdont... |
OMIM:113650 |
Branchiogenic Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormal pinna morphology, Short sta... |
ORPHA:50815 |
Hypertelorism-Microtia-Facial Clefting Syndrome |
|
Severe short stature, Thenar muscle atrophy, Bifid nasal tip, Horseshoe kidney, Microtia, Atresia... |
ORPHA:2213 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Leukocyte inclusion bodies, Epistaxis, Myocardial infarction, Impaired ADP-induced platelet aggre... |
OMIM:155100 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Osteopenia, Joint dislocation, Decreased muscle mass, Thoracic scoliosis, High, narrow palate, Ge... |
ORPHA:1900 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Cerebellar vermis hypoplasia, Micrognathia, Hypoplasia of the pons, Renal cyst, Coloboma, High pa... |
OMIM:616975 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Single transverse palmar crease, Micrognathia, Aminoaciduria, Hypoplasia of the thymus, Intrahepa... |
OMIM:214110 |
Trisomy 8P |
|
Short fourth metatarsal, Multiple joint contractures, Single transverse palmar crease, Abnormal a... |
ORPHA:264450 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Occipital encephalocele, Hypoplasia of the pons, Coloboma, Hypoplasia of the brainstem, Megalocor... |
ORPHA:370959 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Osteopenia, Congenital hip dislocation, Cerebellar vermis hypoplasia, Prominent nose, Abnormal pe... |
ORPHA:480880 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
Diamond-Blackfan Anemia 11 |
|
Bilateral cleft palate, Hypoplasia of the ulna, Short stature, Bicuspid aortic valve, Anemia of i... |
OMIM:614900 |
Cohen Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Low anterior hairline, Short philtr... |
ORPHA:193 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Skeletal muscle atrophy, Elbow contracture, Vertebral fusion, Facial palsy, Hyperlordosis, Should... |
OMIM:606612 |
Bleeding Disorder, Platelet-Type, 24 |
|
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... |
OMIM:619271 |
Kbg Syndrome |
|
Tented upper lip vermilion, Single transverse palmar crease, Short neck, Epispadias, Synophrys, L... |
OMIM:148050 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Optic disc hypoplasia, Cervical kyphosis, Hypoplasia of the maxilla, Depressed nasal ridge, Gastr... |
ORPHA:79345 |
Birk-Aharoni Syndrome |
|
Macrocytic anemia, Micrognathia, Cryptorchidism, Muscular ventricular septal defect, Long nasal b... |
OMIM:620071 |
Transaldolase Deficiency |
|
Edema, Thrombocytopenia, Hydrops fetalis, Coarctation of aorta, Telangiectasia, Hepatosplenomegal... |
ORPHA:101028 |
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Congenital adrenal hyperplasia, Increased circulating ACTH level |
OMIM:613571 |
Duane-Radial Ray Syndrome |
|
Abnormal nasopharynx morphology, Optic disc hypoplasia, Preaxial polydactyly, Shoulder dislocatio... |
OMIM:607323 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Osteopenia, Bicuspid aortic valve, Congenital diaphragmatic hernia, Short neck, Cardiomegaly, Acc... |
OMIM:245600 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bicuspid aortic valve, Micrognathia, Bilateral cryptorchidism, Epispadias, Short metatarsal, High... |
ORPHA:1772 |
Acalvaria |
|
Omphalocele, Spina bifida, Hydrocephalus, Postaxial hand polydactyly, Abnormal lung lobation, Cle... |
ORPHA:945 |
Genitopalatocardiac Syndrome |
|
Ventricular septal defect, Hypospadias, Cleft upper lip, Micrognathia, Cleft palate, Renal cyst, ... |
OMIM:231060 |
Cerebrocostomandibular Syndrome |
|
Multicystic kidney dysplasia, Hydranencephaly, Short stature, Ventricular septal defect, Spina bi... |
ORPHA:1393 |
Refractory Anemia |
|
Normocytic anemia, Abnormal cardiac ventricular function, Macrocytic anemia, Anemia of inadequate... |
ORPHA:98826 |
Mirage Syndrome |
|
Adrenal hypoplasia, Intracranial hemorrhage, Leukopenia, Gastroesophageal reflux, Microphallus, A... |
OMIM:617053 |
Mucopolysaccharidosis, Type Vii |
|
Spatulate ribs, Short neck, Accelerated skeletal maturation, Flexion contracture, Hydrops fetalis... |
OMIM:253220 |
Eosinophilia, Familial |
|
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
Phace Association |
|
Anomalous branches of internal carotid artery, Ventricular septal defect, Optic nerve hypoplasia,... |
OMIM:606519 |
Gapo Syndrome |
|
Mandibular prognathia, Abnormal clavicle morphology, Abnormal cerebral vascular morphology, Micro... |
ORPHA:2067 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia |
OMIM:124900 |
Meckel Syndrome |
|
Ureteral duplication, Sclerocornea, Micrognathia, Asplenia, Depressed nasal ridge, Microcornea, U... |
ORPHA:564 |
Kniest Dysplasia |
|
Arthropathy, Enlarged epiphyses, Enlarged joints, Rhegmatogenous retinal detachment, Abnormality ... |
ORPHA:485 |
Sweeney-Cox Syndrome |
|
Uplifted earlobe, Polyhydramnios, Asplenia, Bilateral cryptorchidism, Micrognathia, Low anterior ... |
OMIM:617746 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Thyroid dysgenesis, Polyhydramnios, Prominent nose, Long nose, Micrognathia, Clinodactyly of the ... |
ORPHA:3047 |
Ear-Patella-Short Stature Syndrome |
|
Hypoplasia of penis, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Epispadias, An... |
ORPHA:2554 |
Cog1-Cdg |
|
Osteopenia, Irregularity of vertebral bodies, Cerebellar vermis hypoplasia, Short neck, Micrognat... |
ORPHA:263508 |
Branchiootic Syndrome |
|
Branchial fistula, Facial palsy, Lip pit, Micrognathia, Sensorineural hearing impairment, Abnorma... |
ORPHA:52429 |
Al-Gazali-Bakalinova Syndrome |
|
Epiphyseal dysplasia, Inguinal hernia, Enlarged joints, Depressed nasal bridge, Short neck, Taper... |
OMIM:607131 |
Mucopolysaccharidosis Type 2 |
|
Communicating hydrocephalus, Irregularity of vertebral bodies, Abnormal tricuspid valve morpholog... |
ORPHA:580 |
Myofibrillar Myopathy 11 |
|
Decreased fetal movement, Centrally nucleated skeletal muscle fibers, Z-band streaming, Dysphagia... |
OMIM:619178 |
Noonan Syndrome With Multiple Lentigines |
|
Bundle branch block, Myocardial infarction, Pectus carinatum, Severe sensorineural hearing impair... |
ORPHA:500 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Severe B lymphocytopenia, Single transverse palmar crease, Micrognathia, Biliary hyperplasia, Coa... |
ORPHA:83617 |
Lacrimoauriculodentodigital Syndrome |
|
Micrognathia, Xerostomia, Orofacial cleft, Conductive hearing impairment, Microdontia, Abnormal s... |
ORPHA:2363 |
Becker Nevus Syndrome |
|
Hamartoma, Supernumerary nipple, Micromelia, Pectus excavatum, Kyphosis, Abnormal tibia morpholog... |
ORPHA:64755 |
Congenital Heart Block |
|
Pericardial effusion, Hydrops fetalis, Peripheral edema, Pallor, Endocardial fibroelastosis, Intr... |
ORPHA:60041 |
Fanconi Anemia, Complementation Group I |
|
Decreased response to growth hormone stimulation test, Short neck, Neutropenia, Atrial septal def... |
OMIM:609053 |
Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
Duplication Of The Pituitary Gland |
|
Thoracic scoliosis, Polyhydramnios, Short neck, Abnormality of the cervical spine, Agenesis of co... |
ORPHA:314621 |
Maternal Phenylketonuria |
|
Anteverted nares, Ventricular septal defect, Bifid distal phalanx of the thumb, Micrognathia, Eso... |
ORPHA:2209 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia |
OMIM:133180 |
Cerebrofaciothoracic Dysplasia |
|
Cerebellar vermis hypoplasia, Polyhydramnios, Short neck, Synophrys, Hemivertebrae, Vertebral seg... |
ORPHA:1394 |
Fraser Syndrome |
|
Subglottic stenosis, Laryngeal stenosis, Hypoplasia of penis, Cleft ala nasi, Dental crowding, Ab... |
ORPHA:2052 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Microcytic anemia, Micrognathia, Pectus carinatum, Gastroesophageal reflux, Narrow chest, Hepatic... |
OMIM:619525 |
Stuve-Wiedemann Syndrome 1 |
|
Enlarged joints, Single transverse palmar crease, Short neck, Micrognathia, Knee flexion contract... |
OMIM:601559 |
Joubert Syndrome 36 |
|
Anteverted nares, Mesoaxial hand polydactyly, Highly arched eyebrow, Sensorineural hearing impair... |
OMIM:618763 |
Poland Syndrome |
|
Unilateral absence of pectoralis major muscle, Syndactyly, Unilateral oligodactyly, Unilateral hy... |
OMIM:173800 |
Hemifacial Microsomia With Radial Defects |
|
Short mandibular rami, Non-midline cleft lip, Cleft palate, Orofacial cleft, Microtia, Atresia of... |
OMIM:141400 |
Apert Syndrome |
|
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Pectus carinatum,... |
OMIM:101200 |
Tarp Syndrome |
|
Cerebellar vermis hypoplasia, Single transverse palmar crease, Micrognathia, Glossoptosis, Premat... |
OMIM:311900 |
Multiple Pterygium Syndrome, X-Linked |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Polyhydramnios, Fetal akinesia ... |
OMIM:312150 |
Trisomy 20P |
|
Short neck, Micrognathia, Low anterior hairline, Abnormal form of the vertebral bodies, Protrudin... |
ORPHA:261318 |
Neurofaciodigitorenal Syndrome |
|
Mandibular prognathia, Abnormal distal phalanx morphology of finger, Prominent nasal bridge, Corn... |
ORPHA:2673 |
Hartsfield Syndrome |
|
Low-set, posteriorly rotated ears, Encephalocele, Depressed nasal bridge, Craniosynostosis, Non-m... |
ORPHA:2117 |
Lipoid Congenital Adrenal Hyperplasia |
|
Congenital adrenal hyperplasia, Adrenogenital syndrome |
OMIM:201710 |
Moyamoya Disease With Early-Onset Achalasia |
|
Raynaud phenomenon, Hypertension, Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
Townes-Brocks Syndrome 1 |
|
Short metatarsal, Gastroesophageal reflux, Holoprosencephaly, Triphalangeal thumb, Chorioretinal ... |
OMIM:107480 |
Microphthalmia, Syndromic 11 |
|
Agenesis of pineal gland, Agenesis of corpus callosum, Cleft palate, Cleft upper lip |
OMIM:614402 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
Gray Platelet Syndrome |
|
Splenomegaly, Abnormality of thrombocytes, Epistaxis, Thrombocytopenia |
ORPHA:721 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Osteopenia, Septo-optic dysplasia, Ectopic posterior pituitary, Decreased response to growth horm... |
ORPHA:95494 |
Noonan Syndrome 1 |
|
Amegakaryocytic thrombocytopenia, Short neck, Micrognathia, High, narrow palate, Lymphedema, Abno... |
OMIM:163950 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epistaxis, Increased mean pl... |
OMIM:314050 |
Xq21 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Chorioretinal degeneration, Upper limb mus... |
ORPHA:1435 |
Methimazole Embryofetopathy |
|
Ventricular septal defect, Choanal atresia, Polyhydramnios, Hypospadias, Abnormality of the thyro... |
ORPHA:1923 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Renal insufficiency, Overlapping toe, Ventricular septal defect, Partial agenesis of the corpus c... |
OMIM:617478 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Thoracic scoliosis, Short neck, Micrognathia, Osteoarthritis, Generalized joint laxit... |
OMIM:618000 |
Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Mixed hearing impairment, Short stature, Abnormality of the mi... |
OMIM:609166 |
Fanconi Anemia |
|
Micrognathia, Abnormal femur morphology, Reduced bone mineral density, Leukopenia, Abnormality of... |
ORPHA:84 |
Thanatophoric Dysplasia |
|
Polyhydramnios, Micromelia, Narrow chest, Atrial septal defect, Depressed nasal bridge, Abnormal ... |
ORPHA:2655 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Sparse scalp hair, Short stature, Single transverse palmar crease, Muscular ventricular septal de... |
OMIM:620062 |
Microphthalmia, Syndromic 5 |
|
Joint laxity, Ectopic posterior pituitary, Cataract, Short stature, Optic nerve hypoplasia, Retin... |
OMIM:610125 |
Trisomy 1Q |
|
Congenital diaphragmatic hernia, Polyhydramnios, Hydrops fetalis, Agenesis of corpus callosum, Mi... |
ORPHA:261344 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Dry hair, Cardiomegaly, Biliary hyperplasia, Micrognathia, Abnormal left ventr... |
OMIM:619991 |
Coffin-Lowry Syndrome |
|
Skeletal muscle atrophy, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Protru... |
ORPHA:192 |
Ablepharon Macrostomia Syndrome |
|
Hypoplasia of penis, Hypoplasia of the maxilla, Microdontia, Sparse hair, Absent eyebrow, Depress... |
ORPHA:920 |
Cowden Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Palmoplantar hyperkeratosis, Hamartomatous polyposis, Hi... |
OMIM:158350 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Follicular thyroid carcinoma, Recurrent fractures, Neoplasm of head and neck, Spinal cord compres... |
ORPHA:319487 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Pallor |
ORPHA:46532 |
Joubert Syndrome 10 |
|
Cerebellar vermis hypoplasia, Postaxial polydactyly, Deep philtrum, Wide nasal bridge, Growth del... |
OMIM:300804 |
Schimke Immuno-Osseous Dysplasia |
|
Short neck, Neutropenia, Microdontia, Intrauterine growth retardation, Nephropathy, Nephrotic ran... |
ORPHA:1830 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Conjunctivitis, Sparse hair, Agenesis of corpus callosum, Abnormal vertebral morphology, Absent e... |
ORPHA:2273 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Skeletal muscle atrophy, Short neck, Metaphyseal widening, Flexion contracture, Low anterior hair... |
OMIM:300232 |
Holoprosencephaly 9 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Hypoplasia ... |
OMIM:610829 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Premature birth, Short stature, Abnormality of the philtrum, Abnormality of th... |
ORPHA:3268 |
Spondylometaphyseal Dysplasia, Axial |
|
Cone/cone-rod dystrophy, Rhizomelia, Anterior rib cupping, Short stature, Splenomegaly, Proximal ... |
OMIM:602271 |
Tricuspid Atresia |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Hypoplasia of right ventri... |
ORPHA:1209 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Optic disc pallor, Cardiomegaly, Perimembranous ventricular septal defect, Recurrent lower respir... |
OMIM:619170 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Osteopenia, Abnormality of dental color, Alopecia, Corneal opacity, Short stature, Kyphoscoliosis... |
OMIM:163200 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Tented upper lip vermilion, Dental crowding, Short neck, High palate, Clinodactyly of the 5th fin... |
OMIM:612582 |
Focal Dermal Hypoplasia |
|
Ureteral duplication, Cleft ala nasi, Congenital hip dislocation, Brittle hair, Congenital diaphr... |
OMIM:305600 |
Bleeding Disorder, Platelet-Type, 20 |
|
Epistaxis, Thrombocytopenia |
OMIM:616913 |
Scimitar Syndrome |
|
Heart block, Abnormal lung morphology, Hypoplasia of the diaphragm, Pulmonary artery hypoplasia, ... |
ORPHA:185 |
Von Willebrand Disease, Type 2 |
|
Epistaxis, Thrombocytopenia |
OMIM:613554 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Ureteral duplication, Congenital diaphragmatic hernia, Biliary atresia, Atrial septal defect, Pan... |
OMIM:600001 |
Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Macrocytic anemia, Unilateral cryptorchidism, Sparse eyelashes, Micrognathia, Cleft palate, Persi... |
OMIM:300946 |
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus |
|
Congenital hip dislocation, Single transverse palmar crease, Rocker bottom foot, Pyloric stenosis... |
OMIM:133705 |
Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Hypertrophic cardiomyopathy, Anemia |
ORPHA:295 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Skeletal muscle atrophy, Abnormal cerebral vascular morphology, Micrognat... |
ORPHA:79474 |
Dextrocardia |
|
Congenital hip dislocation, Abnormality of the spleen, Abnormal lung lobation, Pancreatic hypopla... |
ORPHA:1666 |
X-Linked Mandibulofacial Dysostosis |
|
Low-set, posteriorly rotated ears, Short stature, Prominent nasal bridge, Abnormal mitral valve m... |
ORPHA:1131 |
Tetrasomy 9P |
|
Joint dislocation, Myositis, Glue ear, Dental crowding, Short neck, Micrognathia, Biliary atresia... |
ORPHA:3310 |
Acrocallosal Syndrome |
|
Mandibular prognathia, Downturned corners of mouth, Coloboma, High palate, Short philtrum, Clinod... |
OMIM:200990 |
Renpenning Syndrome |
|
Mandibular prognathia, Skeletal muscle atrophy, Prominent nose, High, narrow palate, Short philtr... |
ORPHA:3242 |
Tarp Syndrome |
|
Extramedullary hematopoiesis, Single transverse palmar crease, Micrognathia, Glossoptosis, Atrial... |
ORPHA:2886 |
Cowden Syndrome 5 |
|
Micrognathia, Hypoplasia of the maxilla, Palmoplantar hyperkeratosis, Hamartomatous polyposis, Hi... |
OMIM:615108 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Polyhydramnios, Aplasia of the epiglottis, Narrow chest, Atrioventricular canal defect, Hepatomeg... |
OMIM:617088 |
Cartilage-Hair Hypoplasia |
|
Micromelia, Short neck, Heart block, Metaphyseal chondrodysplasia, Accelerated skeletal maturatio... |
ORPHA:175 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Short neck, Tibial metaphyseal i... |
ORPHA:457395 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Wormian bones, Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges... |
OMIM:601356 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Single transverse palmar crease, Adrenal hypoplasia, Micrognathia, High, narrow palate, Aminoacid... |
OMIM:214100 |
Mucopolysaccharidosis, Type Ivb |
|
Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Widely spac... |
OMIM:253010 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated hepatic transaminase, Decreased fetal movement, Prominence of the premaxilla, Short stat... |
OMIM:614886 |
Osteopathia Striata With Cranial Sclerosis |
|
Dental crowding, Polyhydramnios, Micrognathia, Partial agenesis of the corpus callosum, Osteopath... |
OMIM:300373 |
Fraser Syndrome 2 |
|
Wide nose, Intestinal malrotation, Unilateral renal agenesis, Underdeveloped nasal alae, Short ne... |
OMIM:617666 |
Cowden Syndrome 6 |
|
Micrognathia, Hypoplasia of the maxilla, Palmoplantar hyperkeratosis, Hamartomatous polyposis, Hi... |
OMIM:615109 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Atrioventricular canal defect, Left ventricular outflow tract obstruct... |
OMIM:615779 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
Multiple Pterygium Syndrome, Lethal Type |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Polyhydramnios, Fetal akinesia ... |
OMIM:253290 |
Cohen Syndrome |
|
Thoracic scoliosis, Bone spicule pigmentation of the retina, Decreased response to growth hormone... |
OMIM:216550 |
Basal Cell Nevus Syndrome 1 |
|
Mandibular prognathia, Rhabdomyoma, Palmar pits, Hemivertebrae, Cardiac fibroma, Abnormal sternum... |
OMIM:109400 |
Mucopolysaccharidosis Type 3 |
|
Abnormal clavicle morphology, Adenoiditis, Cardiomegaly, Synophrys, Flexion contracture, Atrioven... |
ORPHA:581 |
Joubert Syndrome 1 |
|
Cerebellar vermis hypoplasia, Brainstem dysplasia, Clinodactyly, Renal cyst, Hypoplasia of the br... |
OMIM:213300 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Hypoplasia of the maxilla, Fl... |
OMIM:218000 |
Joubert Syndrome With Oculorenal Defect |
|
Low-set, posteriorly rotated ears, Encephalocele, Renal insufficiency, Cerebellar vermis hypoplas... |
ORPHA:2318 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Hepatic fibrosis, Atrial septal defect, Neonatal death, Dandy-Walker malformation, Hepa... |
OMIM:208540 |
Williams Syndrome |
|
Osteopenia, Periorbital edema, Abnormal form of the vertebral bodies, Protruding ear, Nephrocalci... |
ORPHA:904 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral fusion, Sacral dimple, Bicuspid aortic valve, Unilateral renal agenesis, Anomalous orig... |
OMIM:618845 |
Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Venous insufficiency, Hypoplasia of the maxilla, Abnormal form of the vertebral bod... |
ORPHA:1106 |
1Q41Q42 Microdeletion Syndrome |
|
Depressed nasal bridge, Hypergonadotropic hypogonadism, Congenital diaphragmatic hernia, Underdev... |
ORPHA:250999 |
Treacher-Collins Syndrome |
|
Hypoplasia of penis, Micrognathia, Hypoplasia of the maxilla, Low anterior hairline, Glossoptosis... |
ORPHA:861 |
Diastrophic Dysplasia |
|
Joint dislocation, Abnormal clavicle morphology, Micromelia, Proximal placement of thumb, Microgn... |
ORPHA:628 |
Microphthalmia With Limb Anomalies |
|
Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Deep philtrum, Tibial bowing, Camp... |
OMIM:206920 |
Brain-Lung-Thyroid Syndrome |
|
Thyroid dysgenesis, Elevated circulating thyroid-stimulating hormone concentration, Atrial septal... |
ORPHA:209905 |
Fibrochondrogenesis 1 |
|
Short neck, Hydrops fetalis, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th fi... |
OMIM:228520 |
Distal Deletion 17Q |
|
Aplasia/Hypoplasia of the thumb, Micromelia, Abnormal form of the vertebral bodies, Bilateral sin... |
ORPHA:1597 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Skeletal muscle atrophy, Flexion contracture, Ragged-red muscle fibers, Orofacial cleft, Gastroes... |
ORPHA:17 |
Niemann-Pick Disease, Type B |
|
Hypertriglyceridemia, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocyto... |
OMIM:607616 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Dental crowding, Congenital diaphragmatic hernia, Synophrys, Low anterior hairline, Downturned co... |
OMIM:301044 |
Xk Aprosencephaly Syndrome |
|
Atrial septal defect, Microphthalmia, Ventricular septal defect, Polyhydramnios |
ORPHA:3469 |
Muscle-Eye-Brain Disease |
|
Cataract, Hydrocephalus, Meningocele, Optic atrophy, Myopathy, Holoprosencephaly, Aplasia/Hypopla... |
ORPHA:588 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Congest... |
ORPHA:75564 |
Chops Syndrome |
|
High, narrow palate, Synophrys, Downturned corners of mouth, Coarse hair, Gastroesophageal reflux... |
OMIM:616368 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Congenital diaphragmatic hernia, Polyhydramn... |
OMIM:312870 |
Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Atrial septal defect, Posteriorly rotated ears, Anteverted nares, Promin... |
OMIM:612946 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Polyhydramnios, Apl... |
ORPHA:3472 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
8P Inverted Duplication/Deletion Syndrome |
|
Short neck, Micrognathia, High, narrow palate, Synophrys, Aplasia/Hypoplasia of the gallbladder, ... |
ORPHA:96092 |
Coarctation Of Aorta |
|
Hypoplastic left heart, Coarctation of aorta |
OMIM:120000 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Exaggerated median tongue furrow, Vertebral fusion, Lumbar hyperlordosis, Thoracic kyphoscoliosis... |
ORPHA:313892 |
Joubert Syndrome 37 |
|
Hepatomegaly, Wide nose, Lumbar hyperlordosis, Anteverted nares, Posteriorly rotated ears, Postax... |
OMIM:619185 |
Ring Chromosome 7 Syndrome |
|
Mandibular prognathia, Single transverse palmar crease, Low anterior hairline, Short philtrum, Ho... |
ORPHA:1449 |
Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Persistent open anterior fontanelle, Single transverse palmar crease, Micrognathia, Renal cyst, H... |
OMIM:614866 |
Alstrom Syndrome |
|
Chronic active hepatitis, Decreased response to growth hormone stimulation test, Accelerated skel... |
OMIM:203800 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Depressed nasal bridge, Delayed epiphyseal ossification, Elevated circulating thyroid-stimulating... |
ORPHA:226313 |
Cleft Palate-Stapes Fixation-Oligodontia Syndrome |
|
Oligodontia of primary teeth, Tarsal synostosis, Cleft palate, Bilateral conductive hearing impai... |
ORPHA:2010 |
Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
Noonan Syndrome 9 |
|
Curly hair, Hydroureter, Short stature, Ventricular septal defect, Prominent corneal nerve fibers... |
OMIM:616559 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Hypoplasia of the semicircular canal, Heterochromia iridis, ... |
OMIM:609136 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Omphalocele, Bowing of the long bones, Intestinal malrotation, Postaxial hand poly... |
OMIM:603194 |
Meckel Syndrome 14 |
|
Occipital encephalocele, Short neck, Micrognathia, Hepatic fibrosis, Holoprosencephaly, Single ve... |
OMIM:619879 |
8P23.1 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Short neck, Proximal placement of thumb, Micrognathia, Enlarged ... |
ORPHA:251071 |
Coxoauricular Syndrome |
|
Short stature, Micromelia, Hip dislocation, Abnormal femur morphology, Reduced bone mineral densi... |
ORPHA:1508 |
Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
Osteogenesis Imperfecta |
|
Osteopenia, Abnormality of dental color, Cervical kyphosis, Micromelia, Micrognathia, Abnormal ti... |
ORPHA:666 |
Restrictive Dermopathy 1 |
|
Spontaneous chorioamniotic separation, Ureteral duplication, Adrenal hypoplasia, Polyhydramnios, ... |
OMIM:275210 |
Deafness, Conductive, With Ptosis And Skeletal Anomalies |
|
Abnormality of the dentition, Clinodactyly of the 5th finger, Atresia of the external auditory ca... |
OMIM:221320 |
Bohring-Opitz Syndrome |
|
Joint dislocation, Polyhydramnios, Micrognathia, Flexion contracture, Low anterior hairline, Hypo... |
OMIM:605039 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Osteopenia, Short lingual frenulum, Bilateral cryptorchidism, Pulmonary artery hypoplasia, Microp... |
ORPHA:2326 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Anterior pituitary hypoplasia, Mi... |
OMIM:151050 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Recurrent fractures, Neoplasm of head and neck, Chronic noninfectious lymphadenopathy, Breast car... |
ORPHA:97290 |
Alagille Syndrome |
|
Corneal dystrophy, Micrognathia, Long nose, Abnormal pupil morphology, Abnormal form of the verte... |
ORPHA:52 |
Glossopharyngeal Neuralgia |
|
Oral-pharyngeal dysphagia, Ear pain, Cranial nerve compression, Odynophagia, Jaw claudication, Sc... |
ORPHA:221098 |
Bohring-Opitz Syndrome |
|
Joint dislocation, Cardiomegaly, Micrognathia, Synophrys, Coloboma, Congenital contracture, Agene... |
ORPHA:97297 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Low-set, posteriorly rotated ears, Corneal opacity, Short stature, Narrow mouth, Abnormal form of... |
ORPHA:2370 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature, Kyphosis, Hyp... |
OMIM:609813 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Truncus arteriosus, Malformation of the hepatic ductal plate, Asplenia, Situs inver... |
OMIM:615415 |
Frontometaphyseal Dysplasia 2 |
|
Subglottic stenosis, Decreased muscle mass, Congenital hip dislocation, Bicuspid aortic valve, El... |
OMIM:617137 |
Hb Bart'S Hydrops Fetalis |
|
Pericarditis, Polyhydramnios, Hydrops fetalis, Pallor, Oligohydramnios |
ORPHA:163596 |
Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Mild postnatal growth retard... |
ORPHA:168549 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Multiple joint contractures, Anterior pituitary hypoplasia, Renal cyst, Protruding ear, Hypoplasi... |
ORPHA:464306 |
Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperal... |
ORPHA:251274 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Subglottic stenosis, Asplenia, Left superior vena cava draining directly to the left atrium, Dext... |
OMIM:619657 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Osteopenia, Genu recurvatum, Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, Meta... |
OMIM:182212 |
Kniest Dysplasia |
|
Enlarged joints, Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Conductiv... |
OMIM:156550 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Optic disc pallor, Posteriorly rotated ears, Sandal gap, Congenital diap... |
OMIM:300887 |
Trichohepatoneurodevelopmental Syndrome |
|
Dental crowding, Polyhydramnios, Synophrys, Downturned corners of mouth, Coarse hair, High palate... |
OMIM:618268 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hypertriglyceridemia, Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia |
OMIM:603552 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Edema, Quadriceps muscle weakness, Ragged-red muscle fibers, Abnormality of the liver, Gastroesop... |
ORPHA:254892 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Micrognathia, High, narrow palate, Abnormal finger morphology, Chiari type I malformation, Glosso... |
ORPHA:436003 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Communicating hydrocephalus, Mandibular prognathia, Septo-optic dysplasia, Short fourth metatarsa... |
OMIM:619841 |
Mucopolysaccharidosis, Type Iva |
|
Mandibular prognathia, Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening,... |
OMIM:253000 |
Chondrodysplasia, Blomstrand Type |
|
Premature birth, Depressed nasal bridge, Fetal ascites, Polyhydramnios, Micromelia, Accelerated s... |
OMIM:215045 |
Mucopolysaccharidosis Type 1 |
|
Joint dislocation, Sinusitis, Low anterior hairline, Abnormal form of the vertebral bodies, Enlar... |
ORPHA:579 |
Atelosteogenesis, Type I |
|
Laryngeal stenosis, Polyhydramnios, Short neck, Micrognathia, Short metatarsal, Tibial bowing, Kn... |
OMIM:108720 |
Cantu Syndrome |
|
Bicuspid aortic valve, Short neck, Cardiomegaly, Lymphedema, Metaphyseal widening, Narrow chest, ... |
OMIM:239850 |
Pseudo-Von Willebrand Disease |
|
Intermittent thrombocytopenia |
OMIM:177820 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Cerebellar vermis hypoplasia, Bicuspid aortic valve, Micrognathia, Microvesicular hepatic steatos... |
OMIM:220111 |
Schwartz-Jampel Syndrome |
|
Skeletal muscle atrophy, Polyhydramnios, Short neck, Micromelia, Micrognathia, Low anterior hairl... |
ORPHA:800 |
Feingold Syndrome Type 1 |
|
Micrognathia, Short middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Conductive ... |
ORPHA:391641 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Osteopenia, Irregular vertebral endplates, High palate, Short phalanx of finger, Bifid uvula, Dis... |
OMIM:612350 |
Holoprosencephaly 14 |
|
Cerebellar atrophy, Ventriculomegaly, Median cleft lip, Anteverted nares, Ventricular septal defe... |
OMIM:619895 |
Ulnar-Mammary Syndrome |
|
Deformed radius, Subglottic stenosis, Ectopic posterior pituitary, Anterior pituitary hypoplasia,... |
OMIM:181450 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Hyperextensibility of the finger joints, Dental crowding, Micrognathia, Long nose, Hypoplasia of ... |
OMIM:309520 |
Wiedemann-Rautenstrauch Syndrome |
|
Short neck, Secundum atrial septal defect, Micrognathia, Flexion contracture, Downturned corners ... |
OMIM:264090 |
Acro-Renal-Ocular Syndrome |
|
Optic disc hypoplasia, Microcornea, Coloboma, Vertebral segmentation defect, Triphalangeal thumb,... |
ORPHA:959 |
Atrial Septal Defect 4 |
|
Atrial septal defect, Patent foramen ovale, Coarctation of aorta |
OMIM:611363 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Single transverse palmar crease, Polyhydramnios, Flexion contracture, Wrist flexion contracture, ... |
ORPHA:254528 |
Martsolf Syndrome 1 |
|
Enlarged sylvian cistern, Thoracic scoliosis, Micrognathia, Hypoplasia of the maxilla, Osteopathi... |
OMIM:212720 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Polyhydramnios, Recurrent pneumonia, Dehydration, Coarctation of aorta, Hypertension, Long eyelas... |
OMIM:616069 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Polyhydramnios, Renal cyst, Protruding ear, Gastroesophageal reflux, Micropenis, Pelvic kidney, A... |
ORPHA:464311 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Elbow contracture, Multiple pterygia, Short neck, Hemivertebrae, Knee flexion contracture, Pectus... |
OMIM:178110 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Hypertension, Adrenal hyperplasia, Adrenogenital syndrome |
OMIM:201910 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Micromelia, Short neck, Cardiomegaly, Delayed epiphyseal ossification, Deep philtrum, Narrow ches... |
OMIM:613320 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Subglottic stenosis, Decreased response to growth hormone stimulation test, Micrognathia, Synophr... |
ORPHA:444077 |
Kagami-Ogata Syndrome |
|
Polyhydramnios, Short neck, Micrognathia, Hepatoblastoma, Frontal hirsutism, Pursed lips, Depress... |
ORPHA:254519 |
Fryns Syndrome |
|
Ureteral duplication, Ectopic pancreatic tissue, Tented upper lip vermilion, Single transverse pa... |
OMIM:229850 |
Mmep Syndrome |
|
Microphthalmia, Ventricular septal defect |
ORPHA:3434 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Low-set, posteriorly rotated ears, Cataract, Depressed nasal bridge, Hypogonadotropic hypogonadis... |
ORPHA:1387 |
Bernard-Soulier Syndrome |
|
Gastrointestinal hemorrhage, Epistaxis, Thrombocytopenia, Giant platelets, Macrothrombocytopenia,... |
OMIM:231200 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Recurrent respiratory infections, Severe short stature, Block verteb... |
OMIM:277300 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Diabetes mellitus, Cardiac arrest, Megaloblastic anemia, Paroxysmal atrial tachycardia, Congestiv... |
ORPHA:49827 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis... |
OMIM:242700 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Proximal placement of thumb, Long nose, Partial agenesis of the corpus callosum, Synophrys, High ... |
OMIM:620113 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia |
ORPHA:2432 |
Acitretin/Etretinate Embryopathy |
|
Micrognathia, Conotruncal defect, Hypoplastic nasal septum, Hypoplasia of the thymus, High palate... |
ORPHA:40366 |
Bilateral Polymicrogyria |
|
Cerebellar atrophy, Micrognathia, Sensorineural hearing impairment, Abnormality of masticatory mu... |
ORPHA:268940 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Coxa vara, Protruding ear, Tibial bowing, Pectus carinatum, Reduced bone mineral dens... |
ORPHA:93315 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Abnormal nasopharynx morphology, Absence of Stensen duct, Decreased response to growth hormone st... |
OMIM:129900 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Alopecia, Brittle hair, Abnormal pinna morphology, Depressed nasal bridge, Anteverted nares, Shor... |
ORPHA:75389 |
Thrombocytopenia 5 |
|
Epistaxis, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Increased mean corpuscular volume, N... |
OMIM:616216 |
Alpha-Mannosidosis, Infantile Form |
|
Communicating hydrocephalus, Osteopenia, Mandibular prognathia, Thickened ribs, Short neck, Pectu... |
ORPHA:309282 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Short neck, Absent frontal sinuses, Micrognathia, Synophrys, Bone pain, Low anterior ... |
ORPHA:955 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Short neck, Micrognathia, Short metatarsal, Femora... |
OMIM:304120 |
Systemic Lupus Erythematosus 17 |
|
Autoimmune thrombocytopenia, Raynaud phenomenon, Thrombocytopenia, Leukopenia, Mitral regurgitati... |
OMIM:301080 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Aplasia of the nasal bone, Ileal atresia, Micrognathia, Protruding ear, Holoprosencephaly, Microp... |
OMIM:618820 |
Frontometaphyseal Dysplasia |
|
Subglottic stenosis, Single transverse palmar crease, Limited elbow movement, Micrognathia, Metap... |
ORPHA:1826 |
2Q37 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Short neck, Downturned corners of mouth, Short palm, Clinodactyl... |
ORPHA:1001 |
Gm1 Gangliosidosis Type 1 |
|
Spatulate ribs, Hydrops fetalis, Pectus carinatum, Hypoplastic vertebral bodies, Aspiration pneum... |
ORPHA:79255 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Hydrops fetalis, Renal cyst, Dehydration, ... |
ORPHA:699 |
Joubert Syndrome 2 |
|
Brainstem dysplasia, Renal cyst, Hypoplasia of the brainstem, High palate, Chorioretinal coloboma... |
OMIM:608091 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Short neck, Micrognathia, Renal cyst, Atrial septal defect, Micropenis, Agenesis of corpus callos... |
OMIM:257300 |
Gorlin Syndrome |
|
Mandibular prognathia, Vertebral fusion, Cataract, Hypogonadotropic hypogonadism, Arachnodactyly,... |
ORPHA:377 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Skeletal muscle atrophy, Secundum atrial septal defect, Sensorineural hearing impairment, Elevate... |
OMIM:614300 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Dry hair, Short 3rd toe, Tapered finger, Dysplastic corpus callosum, Short thumb, Split hand, Mus... |
OMIM:618569 |
Melkersson-Rosenthal Syndrome |
|
Facial edema, Facial palsy, Furrowed tongue |
OMIM:155900 |
Mosaic Trisomy 14 |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Anteverted nares, Camptodactyly of finger... |
ORPHA:1703 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
Tick-Borne Encephalitis |
|
Back pain, Skeletal muscle atrophy, Stiff neck, Leukopenia, Tongue fasciculations, Abnormal medul... |
ORPHA:297 |
Meckel Syndrome, Type 7 |
|
Multicystic kidney dysplasia, Inguinal hernia, Portal hypertension, Pancreatic cysts, Situs inver... |
OMIM:267010 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Lateral clavicle hook, Early ossification of capital femoral epiphyses, Renal cyst, Hepatic fibro... |
OMIM:208500 |
15Q11.2 Microdeletion Syndrome |
|
Dilated fourth ventricle, Abnormal pinna morphology, Ventricular septal defect, Coarctation of ao... |
ORPHA:261183 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Hypoplastic right heart, Short neck, Micrognathia, Anteriorly placed anus, Downturned corners of ... |
OMIM:616894 |
Hurler Syndrome |
|
Abnormal clavicle morphology, Short neck, Endocardial fibroelastosis, Abnormal nerve conduction v... |
ORPHA:93473 |
Holoprosencephaly 11 |
|
Cleft lip, Synophrys, Cleft palate, Holoprosencephaly, Polysplenia, Agenesis of corpus callosum, ... |
OMIM:614226 |
Kagami-Ogata Syndrome |
|
Polyhydramnios, Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Atrial septal defec... |
OMIM:608149 |
Deafness, X-Linked 7 |
|
Posteriorly rotated ears, Wide nasal bridge, Atresia of the external auditory canal, Stenosis of ... |
OMIM:301018 |
Congenital Sialidosis Type 2 |
|
Edema, Yellow/white lesions of the retina, Cherry red spot of the macula, Hypoplasia of the fovea... |
ORPHA:93400 |
Fontaine Progeroid Syndrome |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Bicuspid aortic valve, Micrognathia, Hypopla... |
OMIM:612289 |
Peters-Plus Syndrome |
|
Ureteral duplication, Short lingual frenulum, Bilobate gallbladder, Polyhydramnios, Short neck, S... |
OMIM:261540 |
Ciliary Dyskinesia, Primary, 37 |
|
Dextrocardia, Hearing impairment, Situs inversus totalis, Bronchiectasis, Right aortic arch, Chro... |
OMIM:617577 |
Desbuquois Dysplasia 1 |
|
Joint dislocation, Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Ost... |
OMIM:251450 |
Kimura Disease |
|
Lymphadenopathy, Abnormal salivary gland morphology, Eosinophilia, Follicular hyperplasia |
ORPHA:482 |
Au-Kline Syndrome |
|
Downturned corners of mouth, Vertebral segmentation defect, Oligodontia, High palate, Gastroesoph... |
OMIM:616580 |
Shashi-Pena Syndrome |
|
Accelerated skeletal maturation, Synophrys, Atrial septal defect, Short metacarpal, Highly arched... |
OMIM:617190 |
Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc... |
ORPHA:3453 |
Duane Retraction Syndrome |
|
Skeletal muscle atrophy, Aplasia/Hypoplasia of the thumb, Central heterochromia, Optic disc hypop... |
ORPHA:233 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Talipes equinovarus, Ventricular septal defect, Atresia of the external auditory canal |
OMIM:209770 |
Congenital Heart Defects, Multiple Types, 9 |
|
Aortopulmonary collateral arteries, Mitral atresia, Left axis deviation, Pectus excavatum, Arteri... |
OMIM:620294 |
Acute Myelomonocytic Leukemia |
|
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia |
ORPHA:517 |
Pierre Robin Sequence With Facial And Digital Anomalies |
|
Tapered finger, Micrognathia, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxate... |
OMIM:311895 |
Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
Maffucci Syndrome |
|
Neoplasm of the adrenal cortex, Sarcoma, Chondrosarcoma, Astrocytoma, Short stature, Recurrent fr... |
ORPHA:163634 |
Meckel Syndrome, Type 3 |
|
Hepatomegaly, Occipital encephalocele, Multicystic kidney dysplasia, Malformation of the hepatic ... |
OMIM:607361 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Thin upper lip vermilion, Short stature, Thoracolumbar scoliosis, Underdeveloped nasal alae, Shor... |
OMIM:616549 |
Meckel Syndrome, Type 10 |
|
Dilated fourth ventricle, Occipital encephalocele, Sacral dimple, Ulnar deviation of the hand, Ab... |
OMIM:614175 |
1Q21.1 Microdeletion Syndrome |
|
High palate, Clinodactyly of the 5th finger, Vesicoureteral reflux, Agenesis of corpus callosum, ... |
ORPHA:250989 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Micrognathia, Biliary hyperplasia, Depressed nasal ridge, Abnormal intrahepatic bile... |
ORPHA:731 |
Beckwith-Wiedemann Syndrome |
|
Mandibular prognathia, Ureteral duplication, Congenital diaphragmatic hernia, Polyhydramnios, Car... |
ORPHA:116 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Peripheral arteriovenous fistula, Edema, Pulmonary emb... |
ORPHA:90308 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Adrenal hyperplasia, Decreased circulating ACTH concentration, Hypertension, Increased circulatin... |
OMIM:219080 |
Placental Insufficiency |
|
Abnormal umbilical cord blood vessel morphology, Proportionate short stature, Abnormal lung morph... |
ORPHA:439167 |
Steinfeld Syndrome |
|
Absent gallbladder, Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Abnormal pinna morph... |
OMIM:184705 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Single transverse palmar crease, Secundum atrial septal defect, Neonatal omphalitis, Oral ulcer, ... |
OMIM:612541 |
Hydrolethalus |
|
Microphthalmia, Anophthalmia, Anencephaly, Polyhydramnios |
ORPHA:2189 |
Primary Unilateral Adrenal Hyperplasia |
|
Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Hypertensi... |
ORPHA:231580 |
Cerebrotendinous Xanthomatosis |
|
Osteopenia, Precocious atherosclerosis, Abnormal tibia morphology, Abnormal lung morphology, Abno... |
ORPHA:909 |
De Barsy Syndrome |
|
Osteopenia, Decreased muscle mass, Congenital hip dislocation, Cerebellar vermis hypoplasia, Gene... |
ORPHA:2962 |
Schimke Immunoosseous Dysplasia |
|
Osteopenia, Short neck, Bilateral cryptorchidism, Elevated circulating thyroid-stimulating hormon... |
OMIM:242900 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Micromelia, Abnormal form of the vertebral bodies, Long ... |
ORPHA:2635 |
Orofaciodigital Syndrome V |
|
Lobulated tongue, High palate, Agenesis of corpus callosum, Bifid uvula, Hamartoma of tongue, Opt... |
OMIM:174300 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Abnormality of the seventh cranial nerve, Upper limb muscle weakness, Aspiration pneumonia, Dysph... |
ORPHA:90117 |
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Sensorineural hearing impairment, Abnormal salivary gland morphology |
ORPHA:3225 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Anemia |
OMIM:615285 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypertension, Adrenal hyperplasia, Adrenogenital syndrome |
OMIM:202110 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
2-5 finger syndactyly, Congenital hip dislocation, Single transverse palmar crease, Adrenal hypop... |
OMIM:308050 |
Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
Tetraamelia-Multiple Malformations Syndrome |
|
Septo-optic dysplasia, Polyhydramnios, Micrognathia, Abnormal lung lobation, Orofacial cleft, Mic... |
ORPHA:3301 |
Orofaciodigital Syndrome I |
|
Dry hair, Lobulated tongue, Hepatic fibrosis, High palate, Sparse hair, Agenesis of corpus callos... |
OMIM:311200 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Cerebellar atrophy, Chorioretinal hyperpigmentation, Sensorineural... |
OMIM:618329 |
Acute Peripheral Arterial Occlusion |
|
Pallor |
ORPHA:90064 |
Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
Gracile Bone Dysplasia |
|
Short stature, Asplenia, Hydrocephalus, Flared metaphysis, Thin ribs, Micropenis, Slender long bo... |
OMIM:602361 |
Atelosteogenesis, Type Ii |
|
Cervical kyphosis, Micromelia, Short neck, Increased intervertebral space, Micrognathia, Lumbar h... |
OMIM:256050 |
Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia |
ORPHA:1980 |
Down Syndrome |
|
Short neck, Depressed nasal ridge, Downturned corners of mouth, Clinodactyly of the 5th finger, C... |
ORPHA:870 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... |
ORPHA:95699 |
Carey-Fineman-Ziter Syndrome 1 |
|
Skeletal muscle atrophy, Micrognathia, Flexion contracture, Glossoptosis, Hypoplasia of the brain... |
OMIM:254940 |
Craniodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Depressed nasal bridge, Short stature, Optic atrophy, Wide nasal bridg... |
ORPHA:1513 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Hypertrophic cardiomyopathy, Pallor |
OMIM:612989 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Elevated hepatic transaminase, Hepatomegaly, Short palm, Toe syndactyly, Posteriorly rotated ears... |
OMIM:618958 |
Mulibrey Nanism |
|
Dental crowding, Single transverse palmar crease, Corneal dystrophy, Cardiomegaly, Absent frontal... |
OMIM:253250 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra... |
ORPHA:363417 |
Cheilitis Glandularis |
|
Neoplasm, Abnormal salivary gland morphology, Thick lower lip vermilion, Squamous cell carcinoma |
ORPHA:1221 |
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Macular coloboma, Facial palsy, Coarctation of aorta, Retinal coloboma, Interrupted aortic arch |
OMIM:107550 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Prominent nose, Bilateral cryptorchidism, Synophrys, Low anterior hairline, Pectus carinatum, Dow... |
OMIM:617796 |
Proteus Syndrome |
|
Depressed nasal bridge, Kyphoscoliosis, Spinal cord compression, Splenomegaly, Facial hyperostosi... |
OMIM:176920 |
Otopalatodigital Syndrome Type 1 |
|
Proximal placement of thumb, Oligodontia, Short palm, Abnormal vertebral segmentation and fusion,... |
ORPHA:90650 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Cerebellar vermis hypoplasia, Congenital diaphragmatic hernia, Short neck, Polyhydramnios, Microm... |
OMIM:616546 |
Congenital Varicella Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:291 |
Non-24-Hour Sleep-Wake Syndrome |
|
Abnormal pineal melatonin secretion |
ORPHA:73267 |
Otospondylomegaepiphyseal Dysplasia |
|
Enlarged joints, Polyhydramnios, Short neck, Micrognathia, Osteoarthritis, Abnormal iliac wing mo... |
ORPHA:1427 |
Coffin-Siris Syndrome 1 |
|
Dry hair, Single transverse palmar crease, Congenital diaphragmatic hernia, Conical tooth, Ectopi... |
OMIM:135900 |
Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia |
ORPHA:529 |
Craniosynostosis 4 |
|
Ectopic posterior pituitary, Depressed nasal bridge, Optic nerve hypoplasia, Sagittal craniosynos... |
OMIM:600775 |
Autosomal Dominant Cutis Laxa |
|
Osteopenia, Genu recurvatum, Protruding ear, Abnormal curvature of the vertebral column, Emphysem... |
ORPHA:90348 |
Conotruncal Heart Malformations |
|
Broad hallux, Postaxial polydactyly, Complete atrioventricular canal defect, Double outlet right ... |
OMIM:217095 |
Igg4-Related Ophthalmic Disease |
|
Sinusitis, Cholangitis, Abnormality of infra-orbital nerve, Periorbital edema, Abnormal lung morp... |
ORPHA:449563 |
Pierre Robin Syndrome |
|
Micrognathia, Pierre-Robin sequence, Cor pulmonale, Cleft palate, Glossoptosis |
OMIM:261800 |
Degcags Syndrome |
|
Osteopenia, Polyhydramnios, Prominent nose, Oral-pharyngeal dysphagia, Pancytopenia, Micrognathia... |
OMIM:619488 |
Orofaciodigital Syndrome Type 6 |
|
Cerebellar vermis hypoplasia, Micrognathia, Bilateral cryptorchidism, Preaxial polydactyly, Finge... |
ORPHA:2754 |
Dermatitis, Atopic |
|
Dry skin, Pallor, Facial erythema |
OMIM:603165 |
Joubert Syndrome 3 |
|
Enlarged fossa interpeduncularis, Atrial septal defect, Cerebellar vermis hypoplasia, Anteverted ... |
OMIM:608629 |
Frontometaphyseal Dysplasia 1 |
|
Carpal synostosis, Skeletal muscle atrophy, Selective tooth agenesis, Limited elbow movement, Abs... |
OMIM:305620 |
Mccune-Albright Syndrome |
|
Accelerated skeletal maturation, Bone pain, Abnormal femur morphology, Gastroesophageal reflux, B... |
ORPHA:562 |
Fanconi Anemia, Complementation Group G |
|
Thrombocytopenia, Leukemia, Anemia, Neutropenia |
OMIM:614082 |
Brachydactyly, Type B1 |
|
Type B brachydactyly, Vertebral fusion, Syndactyly, Hypoplastic sacrum, Ventricular septal defect... |
OMIM:113000 |
Warburg-Cinotti Syndrome |
|
Dental crowding, High palate, Conductive hearing impairment, Wrist flexion contracture, Symblepha... |
OMIM:618175 |
Microhydranencephaly, X-Linked |
|
Decreased fetal movement, Multiple joint contractures, Fetal akinesia sequence, Holoprosencephaly... |
OMIM:306990 |
Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Micromelia, Micrognathia, Chiari type I malformation, Micropenis, Depres... |
OMIM:241800 |
Gómez-López-Hernández Syndrome |
|
Cerebellar vermis hypoplasia, Short stature, Anteverted nares, Corneal opacity, Abnormal cerebell... |
ORPHA:1532 |
Long Qt Syndrome 16 |
|
Patent ductus arteriosus after birth at term, T-wave alternans, Second degree atrioventricular bl... |
OMIM:618782 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia |
OMIM:610539 |
Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta |
OMIM:241550 |
Pseudoachondroplasia |
|
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening... |
ORPHA:750 |
Proboscis Lateralis |
|
Single naris, Orofacial cleft, Microcornea, Abnormality of the maxillary sinus, High palate, Holo... |
ORPHA:141099 |
Orofaciodigital Syndrome Type 14 |
|
Short neck, Bilateral cryptorchidism, Epispadias, Partial agenesis of the corpus callosum, Aplasi... |
ORPHA:434179 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Tented upper lip vermilion, Single transverse palmar crease, Uplifted earlobe, Pectus carinatum, ... |
OMIM:616449 |
Axial Mesodermal Dysplasia Spectrum |
|
Congenital diaphragmatic hernia, Short neck, Micrognathia, Abnormality of the spleen, Anorectal a... |
ORPHA:1834 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Reduced bone mineral density, High palate, Gastroesophageal reflux, Emphysema, Hepati... |
OMIM:613658 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anophthalmia |
ORPHA:411986 |
Santos Syndrome |
|
Syndactyly, Short stature, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu... |
OMIM:613005 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Mild postnatal growth retardation, Lymphedema, Periorbital edema, Ectopic kidney, Rectal prolapse... |
OMIM:235510 |
Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
16P12.1P12.3 Triplication Syndrome |
|
Decreased response to growth hormone stimulation test, Bilateral cryptorchidism, High, narrow pal... |
ORPHA:485405 |
Moebius Syndrome |
|
Abnormal nasopharynx morphology, Short neck, Micrognathia, Congenital fibrosis of extraocular mus... |
OMIM:157900 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
External Auditory Canal Atresia-Vertical Talus-Hypertelorism Syndrome |
|
Clinodactyly of the 5th finger, Bilateral single transverse palmar creases, Atresia of the extern... |
ORPHA:3023 |
Generalized Arterial Calcification Of Infancy |
|
Medial calcification of large arteries, Choroidal neovascularization, Adrenal calcification, Poly... |
ORPHA:51608 |
Spondylocarpotarsal Synostosis Syndrome |
|
Short neck, Coxa vara, Pectus carinatum, Renal cyst, Vertebral segmentation defect, Clinodactyly ... |
OMIM:272460 |
Orofaciodigital Syndrome Type 10 |
|
Short neck, Micrognathia, Preaxial polydactyly, Short 4th finger, Short tibia, Radial deviation o... |
ORPHA:2756 |
Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly, Truncus arteriosus |
OMIM:215850 |
Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Thrombocytopenia, Anemia |
OMIM:615715 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Osteopenia, Single transverse palmar crease, Adrenal hypoplasia, Morgagni diaphragmatic hernia, M... |
OMIM:613177 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Abnormal nasopharynx morphology, Absence of Stensen duct, Decreased response to growth hormone st... |
OMIM:604292 |
Mucopolysaccharidosis, Type Vi |
|
Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ... |
OMIM:253200 |
Chromosome 16P13.3 Duplication Syndrome |
|
Tented upper lip vermilion, Proximal placement of thumb, Short neck, Micrognathia, Tracheobroncho... |
OMIM:613458 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Absent gallbladder, Aplasia/Hypoplasia of the phalanges of the thumb, Abnormal pinna morphology, ... |
ORPHA:556955 |
Distal Duplication 14Q |
|
Short stature, Patent ductus arteriosus, Abnormal lung lobation, Abnormal aortic morphology, Hear... |
ORPHA:1705 |
Multiple Epiphyseal Dysplasia, Beighton Type |
|
Thoracic scoliosis, Osteoarthritis, Coxa vara, Pedal edema, Double-layered patella, Abnormal hip ... |
ORPHA:166011 |
Non-Involuting Congenital Hemangioma |
|
Congestive heart failure, Telangiectasia of the skin, Thrombocytopenia |
ORPHA:141179 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Diabetes mellitus, Adrenal hyperplasia, Hypertension, Increased circulating cortisol level, Prima... |
OMIM:615830 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
First degree atrioventricular block, Cardiomegaly, Right atrial enlargement, Atrioventricular blo... |
OMIM:115197 |
Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Abnormal morphology of the radius, Renal insufficiency, Median cleft lip, Premature birth, Abnorm... |
ORPHA:2165 |
Atelosteogenesis Type I |
|
Joint dislocation, Laryngeal stenosis, Polyhydramnios, Micrognathia, Narrow chest, Absent or mini... |
ORPHA:1190 |
Hyperaldosteronism, Familial, Type Iii |
|
Hypertension, Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level |
OMIM:613677 |
Fixed Subaortic Stenosis |
|
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... |
ORPHA:3092 |
Pycnodysostosis |
|
Abnormal clavicle morphology, Persistent open anterior fontanelle, Obtuse angle of mandible, Decr... |
ORPHA:763 |
Microphthalmia, Isolated 4 |
|
Microphthalmia |
OMIM:613094 |
Stromme Syndrome |
|
Cerebellar vermis hypoplasia, Sclerocornea, Micrognathia, Bilateral renal hypoplasia, Preaxial po... |
OMIM:243605 |
Encephalocraniocutaneous Lipomatosis |
|
Multiple lipomas, Capillary hemangioma, Agenesis of corpus callosum, Iris coloboma, Alopecia, Abn... |
ORPHA:2396 |
Anophthalmia Plus Syndrome |
|
Anophthalmia, Spina bifida |
ORPHA:1104 |
Barber-Say Syndrome |
|
Delayed eruption of teeth, Anteverted nares, Abnormal pinna morphology, Bulbous nose, Wide nasal ... |
ORPHA:1231 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Hemophagocytosis, Anemia |
OMIM:613101 |
Thanatophoric Dysplasia Type 1 |
|
Polyhydramnios, Micromelia, Femoral bowing, Narrow chest, Atrial septal defect, Depressed nasal b... |
ORPHA:1860 |
Pituitary Stalk Interruption Syndrome |
|
Septo-optic dysplasia, Ectopic posterior pituitary, Short stature, Hypoplasia of penis, Adrenal h... |
ORPHA:95496 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
22Q11.2 Duplication Syndrome |
|
Wide nose, Ventricular septal defect, Micrognathia, Urethral stenosis, Depressed nasal ridge, Cle... |
ORPHA:1727 |
Juvenile Sialidosis Type 2 |
|
Hepatomegaly, Inguinal hernia, Cataract, Corneal opacity, Protruding tongue, Generalized hypertri... |
ORPHA:93399 |
Solitary Median Maxillary Central Incisor |
|
Abnormal nasopharynx morphology, Midnasal stenosis, Choanal atresia, Decreased response to growth... |
OMIM:147250 |
Cowden Syndrome |
|
Hamartomatous polyposis, Neoplasm of the central nervous system, Neoplasm, High palate, Papilloma... |
ORPHA:201 |
Vissers-Bodmer Syndrome |
|
Premature birth, Short stature, Tapered finger, Holoprosencephaly, Intrauterine growth retardation |
OMIM:619033 |
Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Aganglionic megacolon, Sensorineural hearing impairment, Premature gray... |
ORPHA:895 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mandibular prognathia, Mild postnatal growth retardation, Accelerated skeletal maturation, Hypopl... |
OMIM:101800 |
Igg4-Related Kidney Disease |
|
Lymphadenitis, Abnormal lung morphology, Lymphocytoma cutis, Pedal edema, Sterile pyuria, Tubuloi... |
ORPHA:449395 |
Deafness-Ear Malformation-Facial Palsy Syndrome |
|
Abnormality of the stapes, Facial palsy, External ear malformation, Conductive hearing impairment... |
ORPHA:3232 |
Stormorken Syndrome |
|
Short stature, Epistaxis, Subarachnoid hemorrhage, Prominent nose, Asplenia, Howell-Jolly bodies,... |
OMIM:185070 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Tongue... |
OMIM:601596 |
Joubert Syndrome 38 |
|
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Posteriorly rotated ea... |
OMIM:619476 |
Intrahepatic Cholestasis Of Pregnancy |
|
Elevated hepatic transaminase, Premature birth, Abnormality of the pancreas, Jaundice, Abnormal p... |
ORPHA:69665 |
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Occipital encephalocele, Arachnodactyly, Craniosynostosis, Humeroradial synostosis, Oligodactyly |
OMIM:614416 |
Atelosteogenesis Type Ii |
|
Laryngeal stenosis, Cervical kyphosis, Polyhydramnios, Short neck, Micromelia, Micrognathia, Trac... |
ORPHA:56304 |
Saul-Wilson Syndrome |
|
Enlarged epiphyses, Micrognathia, Short metatarsal, Pectus carinatum, Irregular vertebral endplat... |
OMIM:618150 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Short stature, Abnormal dental morphology, Hypospadias, Hyperlordos... |
ORPHA:2522 |
Pseudoaminopterin Syndrome |
|
Single transverse palmar crease, Limited elbow movement, Micrognathia, Asplenia, Orofacial cleft,... |
ORPHA:221120 |
7Q11.23 Microduplication Syndrome |
|
Short lingual frenulum, Single transverse palmar crease, Congenital diaphragmatic hernia, Short n... |
ORPHA:96121 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Trident pelvis, Short lingual frenulum, Flexion contracture, Widely spaced teeth, Narrow chest, M... |
OMIM:619479 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... |
ORPHA:1686 |
Noonan Syndrome 12 |
|
11 pairs of ribs, Lymphopenia, Ventricular septal defect, Decreased response to growth hormone st... |
OMIM:618624 |
Sarcoidosis, Susceptibility To, 1 |
|
Generalized lymphadenopathy, Inflammation of the large intestine, Emphysema, Abnormal salivary gl... |
OMIM:181000 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Micrognathia, Short metatarsal,... |
OMIM:609945 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
Pelvis-Shoulder Dysplasia |
|
Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro... |
ORPHA:2839 |
Pediatric-Onset Graves Disease |
|
Accelerated skeletal maturation, Thyrotoxicosis with diffuse goiter, Increased circulating T4 con... |
ORPHA:525731 |
Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt... |
ORPHA:1330 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Recurrent respiratory infections, Short neck, Vertebral clefting, Hemivertebrae, Rib fusion, Disp... |
OMIM:608681 |
Meacham Syndrome |
|
Bicuspid aortic valve, Atrial septal defect, Scimitar anomaly, Diaphragmatic eventration, Neonata... |
OMIM:608978 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Patent ductus arteriosus, Coarctation of aorta, Bilateral lung agenesis, Abnormal cardiac septum ... |
OMIM:601612 |
Distal Deletion 12Q |
|
Single transverse palmar crease, Short neck, Micrognathia, High, narrow palate, Ectopic kidney, B... |
ORPHA:96149 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Short neck, Micrognathia, Oligosacchariduria, Downturned corners of mouth, High palate, Thoracic ... |
ORPHA:163649 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Accessory spleen, Dilated fourth ventricle, Thin upper lip vermilion, Cerebellar vermis hypoplasi... |
OMIM:619306 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Depressed nasal bridge, Delayed cranial suture closu... |
ORPHA:90674 |
Ritscher-Schinzel Syndrome 2 |
|
Pulmonary artery hypoplasia, High palate, Short philtrum, Atrial septal defect, Clinodactyly of t... |
OMIM:300963 |
Brachydactyly-Syndactyly Syndrome |
|
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... |
OMIM:610713 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Hypertension, Increas... |
OMIM:615954 |
Pierre Robin Syndrome And Oligodactyly |
|
Pierre-Robin sequence, Hand oligodactyly, Cleft palate, Micrognathia |
OMIM:172880 |
Amoebiasis Due To Free-Living Amoebae |
|
Stiff neck, Sinusitis, Corneal perforation, Conjunctival hyperemia, Abnormal medulla oblongata mo... |
ORPHA:68 |
Cleidocranial Dysplasia |
|
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Nar... |
ORPHA:1452 |
Endosteal Hyperostosis, Worth Type |
|
Mandibular prognathia, Craniofacial hyperostosis, Sclerotic vertebral body, Facial palsy, General... |
ORPHA:2790 |
Giant Axonal Neuropathy |
|
Facial palsy, Abnormal hand morphology, Abnormal cerebellum morphology, Abnormal pituitary gland ... |
ORPHA:643 |
Congenital Gerbode Defect |
|
Pedal edema, Holosystolic murmur, Bacterial endocarditis, Abnormal tricuspid valve leaflet morpho... |
ORPHA:99095 |
Pontocerebellar Hypoplasia, Type 15 |
|
Thrombocytopenia, Chronic neutropenia, Anemia |
OMIM:619302 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Single transverse palmar crease, Micrognathia, Glossoptosis, High palate, Gastroesophageal reflux... |
OMIM:613604 |
Salivary Gland Adenoma, Pleomorphic |
|
Salivary gland neoplasm |
OMIM:181030 |
Pontine Tegmental Cap Dysplasia |
|
Pontine tegmental cap, Facial palsy, Sensorineural hearing impairment, Hemivertebrae, Rib fusion,... |
OMIM:614688 |
Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Hyperparathyroidism, Dental crowding, Chorioretinal dysplasia, Micrognathi... |
ORPHA:534 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Broad hallux, Hamartoma of tongue, Complete atrioventricular canal defect, Postaxial hand polydac... |
OMIM:217085 |
Bosma Arhinia Microphthalmia Syndrome |
|
Absent tragus, Synophrys, Coloboma, High palate, Aplasia of the nose, Conductive hearing impairme... |
OMIM:603457 |
Codas Syndrome |
|
Congenital hip dislocation, Abnormal form of the vertebral bodies, Short metacarpal, Depressed na... |
ORPHA:1458 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Osteopenia, Joint dislocation, Thoracic scoliosis, Equinus calcaneus, Micrognathia, Prominent vei... |
ORPHA:536532 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Pallor |
ORPHA:2786 |
Thyrocerebrorenal Syndrome |
|
Euthyroid goiter, Thrombocytopenia |
ORPHA:3327 |
Gm1-Gangliosidosis, Type Iii |
|
Skeletal muscle atrophy, Short stature, Kyphosis, Platyspondyly, Flared iliac wing, Scoliosis, An... |
OMIM:230650 |
Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Diabetes mellitus, Megaloblastic anemia, Neutropenia, Diabetes insipidus, T... |
OMIM:598500 |
Heterotaxy, Visceral, 5, Autosomal |
|
Atrial reentry tachycardia, Ureteral duplication, Asplenia, Dextrotransposition of the great arte... |
OMIM:270100 |
Prune Belly Syndrome |
|
Congenital hip dislocation, Vertebral segmentation defect, Atrial septal defect, Vesicoureteral r... |
ORPHA:2970 |
Weill-Marchesani Syndrome 2 |
|
Hypoplasia of the maxilla, Short metatarsal, High palate, Thickened helices, Broad ribs, Broad me... |
OMIM:608328 |
Pagod Syndrome |
|
Encephalocele, Abnormal clavicle morphology, Multicystic kidney dysplasia, Omphalocele, Short sta... |
ORPHA:991 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Skeletal muscle atrophy, Craniofacial hyperostosis, Hypoplasia of penis, Abnormal pinna morpholog... |
ORPHA:3068 |
Sea-Blue Histiocyte Disease |
|
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis |
OMIM:269600 |
Atresia Of External Auditory Canal And Conductive Deafness |
|
Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Stenosis of the external aud... |
OMIM:108760 |
Preeclampsia |
|
Elevated diastolic blood pressure, Polycystic ovaries, Hypertension, Elevated systolic blood pres... |
ORPHA:275555 |
Mungan Syndrome |
|
Barrett esophagus, Tricuspid regurgitation, Intestinal pseudo-obstruction, Hypoperistalsis, Renal... |
OMIM:611376 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Metaphyseal widening, Pectus carinatum, Narrow greater sciatic notch, Osteoporotic tarsals, Enlar... |
OMIM:609052 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
High palate, Conductive hearing impairment, Neonatal death, Agenesis of corpus callosum, Absent g... |
OMIM:618500 |
Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Myocardial infarction, Microangiopathic hemolytic anemia, Arrhythmia, Thrombocyt... |
ORPHA:54057 |
Absence Of The Pulmonary Artery |
|
Abnormal coronary artery morphology, Cardiomegaly, Pedal edema, Atrial septal defect, Patent fora... |
ORPHA:980 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Polyhydramnios, Limited elbow movement, Long nose, Increased intervertebral space, Micrognathia, ... |
ORPHA:508533 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
2Q31.1 Microdeletion Syndrome |
|
Short neck, Micrognathia, Abnormal tibia morphology, Deep philtrum, Synophrys, Low anterior hairl... |
ORPHA:251014 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Decreased palmar... |
OMIM:612394 |
Congenital Toxoplasmosis |
|
Microphthalmia, Intrauterine growth retardation, Ascites, Cardiomegaly |
ORPHA:858 |
Branchiooculofacial Syndrome |
|
Single transverse palmar crease, Proximal placement of thumb, Short neck, Micrognathia, Renal cys... |
OMIM:113620 |
Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Thrombocytopenia |
OMIM:614493 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Anteverted nares, Ventricular septal defect, Protruding tongue, Short neck, Cryptorchidism, Hydro... |
OMIM:612938 |
Neutral Lipid Storage Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Short stature, Chronic pancreatit... |
ORPHA:98908 |
Iniencephaly |
|
Congenital diaphragmatic hernia, Polyhydramnios, Orofacial cleft, Holoprosencephaly, Dandy-Walker... |
ORPHA:63259 |
Breath-Holding Spells |
|
Pallor |
OMIM:607578 |
Diaphanospondylodysostosis |
|
Short neck, Missing ribs, Myelomeningocele, Short thorax, Cleft palate, Narrow pelvis bone, Enlar... |
ORPHA:66637 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Angiofibromas, Pituitary gonadotropic cell adenoma, Cranial... |
ORPHA:652 |
Mental retardation, x-linked, syndromic, Turner type |
|
Macroorchidism, Limited elbow extension, Holoprosencephaly, Tapered finger |
OMIM:300706 |
Meckel Syndrome, Type 5 |
|
Occipital encephalocele, Bowing of the long bones, Cleft upper lip, Postaxial hand polydactyly, A... |
OMIM:611561 |
Aural Atresia, Congenital |
|
Hyposmia, Conductive hearing impairment, Atresia of the external auditory canal |
OMIM:607842 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... |
OMIM:159550 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Ventriculomegaly, Polyhydramnios, Hydrocephalus, Holoprosencephaly, Cerebellar hypoplasia, Cerebe... |
OMIM:617967 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Ventricular septal defect, Hypospadias, Cleft upper lip, Cryptorchidism, Patent ductus arteriosus... |
OMIM:600460 |
Oculodentodigital Dysplasia |
|
Mandibular prognathia, Abnormal clavicle morphology, Brittle hair, Micrognathia, Abnormality of t... |
ORPHA:2710 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Poikilocyto... |
ORPHA:67044 |
Carey-Fineman-Ziter Syndrome |
|
Skeletal muscle atrophy, Laryngeal stenosis, Micrognathia, Aplasia of the pectoralis major muscle... |
ORPHA:1358 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension... |
ORPHA:369929 |
Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Hypergonadotropic hypogonadism, Heterochromia iridis, Abnormality of the middle... |
ORPHA:90646 |
Feingold Syndrome 1 |
|
Polyhydramnios, Micrognathia, Asplenia, High palate, Accessory spleen, Anteverted nares, Esophage... |
OMIM:164280 |
You-Hoover-Fong Syndrome |
|
Brachydactyly, Kyphoscoliosis, Accessory oral frenulum, Pectus excavatum, Cleft palate, Vascular ... |
OMIM:616954 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Skeletal muscle atrophy, Hypoplasia of the maxilla, Flexion contracture, Hyperextensibility at wr... |
ORPHA:481152 |
Neurofibroma |
|
Facial neoplasm, Multiple intestinal neurofibromatosis, Intestinal bleeding, Palmar neurofibroma,... |
ORPHA:252183 |
Spondylo-Ocular Syndrome |
|
Abnormal intervertebral disk morphology, Short neck, Webbed neck, Thoracic kyphosis, Thickened he... |
ORPHA:85194 |
Odontochondrodysplasia |
|
Delayed eruption of teeth, Bowing of the long bones, Depressed nasal bridge, Short stature, Micro... |
ORPHA:166272 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Protruding e... |
OMIM:300534 |
Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
Ascher Syndrome |
|
Wide nose, Upper eyelid edema, Deviation of finger, Abnormal upper lip morphology, High palate, H... |
ORPHA:1253 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Hypertrophic cardiomyopathy, Pallor |
OMIM:613561 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Hepatomegaly, Cataract, Ventricular septal defect, Elevated circulating aspartate aminotransferas... |
OMIM:614876 |
Atypical Hemolytic Uremic Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:2134 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
Holoprosencephaly 2 |
|
Aplasia of the nasal bone, Adrenal hypoplasia, Alobar holoprosencephaly, Holoprosencephaly, Chori... |
OMIM:157170 |
Arterial Tortuosity Syndrome |
|
Carotid artery dissection, Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, Pe... |
OMIM:208050 |
Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Single transverse palmar crease, Triangular shaped distal phalanx of the thumb, Upper limb muscle... |
ORPHA:370010 |
Joubert Syndrome 6 |
|
Dilated fourth ventricle, Enlarged fossa interpeduncularis, Cerebellar vermis hypoplasia, Stage 5... |
OMIM:610688 |
Aarskog-Scott Syndrome |
|
Hyperextensibility of the finger joints, Single transverse palmar crease, Short neck, Bilateral c... |
OMIM:305400 |
Recombinant 8 Syndrome |
|
Micrognathia, Downturned corners of mouth, Abnormal sternum morphology, Atrial septal defect, Cli... |
ORPHA:96167 |
Robin Sequence-Oligodactyly Syndrome |
|
Abnormal morphology of ulna, Abnormality of the dentition, Micrognathia, Hand oligodactyly, Cleft... |
ORPHA:3104 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Mandibular prognathia, Hypoplasia of penis, Short neck, Micrognathia, Pectus carinatum, Clinodact... |
ORPHA:3082 |
Rapidly Involuting Congenital Hemangioma |
|
Congestive heart failure, Telangiectasia of the skin, Thrombocytopenia |
ORPHA:141184 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Micrognathia, Increased intervertebral space, Absent frontal ... |
OMIM:224300 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Anterior pituitary hypoplasia, Micrognathia, Bilateral cryptorchidism, Elevated circulating thyro... |
OMIM:613457 |
Roberts-Sc Phocomelia Syndrome |
|
Polyhydramnios, Short neck, Micrognathia, Tetraphocomelia, Knee flexion contracture, Coloboma, Hi... |
OMIM:268300 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Short neck, Bilateral cryptorchidism, High palate, Agenesis of corpus callosum, Bifid uvula, Iris... |
OMIM:300472 |
Microcephaly-Capillary Malformation Syndrome |
|
Wide nose, Brachydactyly, Short stature, Ventricular septal defect, Hearing impairment, Hypoplasi... |
OMIM:614261 |
Hallermann-Streiff Syndrome |
|
Selective tooth agenesis, Micrognathia, High, narrow palate, Metaphyseal widening, High palate, C... |
OMIM:234100 |
Sponastrime Dysplasia |
|
Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Subglottic stenosis, ... |
ORPHA:93357 |
Forsythe-Wakeling Syndrome |
|
Thrombocytopenia |
OMIM:613606 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Skeletal muscle atrophy, Congenital muscular torticollis, Polyhydramnios, Amniotic constriction r... |
ORPHA:2215 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Diabetes mellitus, Thiamine-responsive megaloblastic anemia, Cryptorchidism... |
OMIM:249270 |
Gabriele-De Vries Syndrome |
|
Micrognathia, High palate, Finger joint hypermobility, Patent foramen ovale, Simple ear, Sparse e... |
OMIM:617557 |
Ciliary Dyskinesia, Primary, 39 |
|
Dextrocardia, Double outlet right ventricle, Bronchiectasis, Recurrent otitis media, Recurrent lo... |
OMIM:618254 |
Shprintzen-Goldberg Syndrome |
|
Communicating hydrocephalus, Osteopenia, Micrognathia, Hypoplasia of the maxilla, High, narrow pa... |
ORPHA:2462 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia |
OMIM:218670 |
Facioscapulohumeral Muscular Dystrophy 1 |
|
Skeletal muscle atrophy, Scapular winging, Tongue atrophy, Facial palsy, Retinal telangiectasia, ... |
OMIM:158900 |
Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Congenital diaphragmatic hernia, Short neck, Hemivertebrae, Downturn... |
ORPHA:1780 |
Gm1-Gangliosidosis, Type Ii |
|
Hepatomegaly, Premature birth, Protruding tongue, Coxa valga, Splenomegaly, Patent ductus arterio... |
OMIM:230600 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Cerebral vasculitis, Leukocytosis, Cerebral edema, Anterior open-bite malocclusion, Abnormal auto... |
ORPHA:83601 |
Meckel Syndrome, Type 6 |
|
Absent gallbladder, Occipital encephalocele, Cleft upper lip, Hydrocephalus, Postaxial hand polyd... |
OMIM:612284 |
Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
Moyamoya Disease 6 With Or Without Achalasia |
|
Raynaud phenomenon, Hypertension, Ischemic stroke, Thrombocytopenia |
OMIM:615750 |
Slc35A1-Cdg |
|
Giant platelets, Neutropenia, Abnormal platelet granules, Thrombocytopenia, Pulmonary hemorrhage |
ORPHA:238459 |
Thyroid Dyshormonogenesis 1 |
|
Growth delay, Macroglossia, Umbilical hernia, Hypothyroidism, Goiter |
OMIM:274400 |
Proteus Syndrome |
|
Decreased muscle mass, Central heterochromia, Pulmonary embolism, Neoplasm of the thymus, Lymphed... |
ORPHA:744 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microphthalmia |
ORPHA:2528 |
Weiss-Kruszka Syndrome |
|
Bicuspid aortic valve, Single transverse palmar crease, Proximal placement of thumb, Protruding e... |
OMIM:618619 |
Fetal Trimethadione Syndrome |
|
Atrial septal defect, Depressed nasal bridge, Ventricular septal defect, Hypospadias, Micrognathi... |
ORPHA:1913 |
Odontochondrodysplasia 1 |
|
Genu recurvatum, Micromelia, Metaphyseal widening, Pectus carinatum, Narrow chest, Nephronophthis... |
OMIM:184260 |
Keratoconus Posticus Circumscriptus |
|
Keratoconus, Limited elbow extension and supination, Short neck, Cleft upper lip, Vesicoureteral ... |
OMIM:244600 |
Stickler Syndrome, Type I |
|
Arthropathy, Micrognathia, Osteoarthritis, Conductive hearing impairment, Bifid uvula, Depressed ... |
OMIM:108300 |
Saethre-Chotzen Syndrome |
|
Hypoplasia of the maxilla, Low anterior hairline, Abnormal form of the vertebral bodies, Triphala... |
ORPHA:794 |
Microphthalmia, Isolated 5 |
|
Microphthalmia, Cystoid macular edema |
OMIM:611040 |
Trisomy 10P |
|
Decreased muscle mass, Micrognathia, Hemivertebrae, Abnormality of the ear, Orofacial cleft, High... |
ORPHA:171929 |
Lujan-Fryns Syndrome |
|
Atrial septal defect, Arachnodactyly, Camptodactyly of finger, Prominent nasal bridge, Dental cro... |
ORPHA:776 |
Thrombocytopenia-Absent Radius Syndrome |
|
Micrognathia, Clinodactyly of the 5th finger, Phocomelia, Genu varum, Low-set, posteriorly rotate... |
ORPHA:3320 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Depressed nasal bridge, Short neck, Cryptorchidism, Bulbous nose, Wide mouth, Macroglossia, Colob... |
OMIM:616789 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hydrocele testis, Anemia, Neutropenia, Congenital thrombocytopenia, Thrombocytopenia |
OMIM:616738 |
Epilepsy, Progressive Myoclonic, 9 |
|
Short thumb, Generalized amyotrophy, Scoliosis, Microglossia, Agenesis of corpus callosum, Ventri... |
OMIM:616540 |
Vacterl/Vater Association |
|
Occipital encephalocele, Hypoplasia of penis, Abnormal intervertebral disk morphology, Congenital... |
ORPHA:887 |
Whistling Face Syndrome, Recessive Form |
|
Inguinal hernia, Shoulder flexion contracture, Prominent nasal bridge, Underdeveloped nasal alae,... |
OMIM:277720 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Osteopenia, Micrognathia, Flexion contracture, Irregular vertebral endplates, High palate, Depres... |
OMIM:222765 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
Aicardi-Goutieres Syndrome 3 |
|
Thrombocytopenia, Hepatosplenomegaly |
OMIM:610329 |
Semilobar Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Flexion contracture, Depressed nasal ridge... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Flexion contracture, Depressed nasal ridge... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Flexion contracture, Depressed nasal ridge... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Flexion contracture, Depressed nasal ridge... |
ORPHA:93924 |
Stickler Syndrome Type 1 |
|
Retinal detachment, Cataract, Hypoplasia of the maxilla, Sensorineural hearing impairment, Osteoa... |
ORPHA:90653 |
Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Prominent nose, Accelerated skeletal maturation, Micrognathia, Hypoplasia ... |
ORPHA:439822 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Intrahepatic cholestasis, Jaundice, S... |
OMIM:602347 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Tented upper lip vermilion, Metaphyseal widening, Craniofacial osteosclerosis, Pectus carinatum, ... |
OMIM:618476 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Septo-optic dysplasia, Frontal encephalocele |
ORPHA:1528 |
Orofaciodigital Syndrome Type 1 |
|
Brittle hair, Micrognathia, Reduced bone mineral density, Lobulated tongue, Coarse hair, High pal... |
ORPHA:2750 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Stapes ankylosis, Toe syndactyly, Broad hallux, Underdeveloped nasal alae, Long nose, Congenital ... |
OMIM:184460 |
Atrioventricular Septal Defect 5 |
|
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart |
OMIM:614474 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Decreased circ... |
ORPHA:90793 |
Coffin-Siris Syndrome |
|
Clinodactyly, Low anterior hairline, Papillary thyroid carcinoma, Aspiration pneumonia, Hepatobla... |
ORPHA:1465 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Mandibular prognathia, Congenital muscular torticollis, Hemivertebrae, Abnormal form of the verte... |
ORPHA:2916 |
Crouzon Syndrome |
|
Choanal atresia, Hypoplasia of the maxilla, Hydrocephalus, Abnormal sacrum morphology, Optic atro... |
ORPHA:207 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Hip contracture, Hyperextensibility of the finger joints, Severe short stature, Depressed nasal b... |
OMIM:313420 |
Mosaic Trisomy 8 |
|
Short neck, Micrognathia, Protruding ear, Vertebral segmentation defect, High palate, Narrow ches... |
ORPHA:96061 |
Anauxetic Dysplasia 3 |
|
Femoral bowing, Oligodontia, Gastroesophageal reflux, Narrow chest, Trident hand, Short metacarpa... |
OMIM:618853 |
Coffin-Siris Syndrome 4 |
|
Prominent interphalangeal joints, Short philtrum, Atrial septal defect, Pulmonary artery atresia,... |
OMIM:614609 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Alopecia, Sparse eyelashes, Thick hair, Portal hypertension, Sparse eyebrow, Spleno... |
OMIM:607626 |
Osteogenesis Imperfecta, Type Xiii |
|
Skeletal muscle atrophy, Protruding ear, Femoral bowing, Pectus carinatum, Enlarged thorax, Reduc... |
OMIM:614856 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Abnormal pinna morphology, Prominent nasal bridge, Choanal atresia, Short neck, Pectus excavatum,... |
ORPHA:52055 |
Syndromic Diarrhea |
|
Villous atrophy, Brittle hair, Bicuspid aortic valve, Abnormality of the liver, Colitis, Hepatic ... |
ORPHA:84064 |
Tibial Hemimelia |
|
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac... |
ORPHA:93322 |
Stuve-Wiedemann Syndrome 2 |
|
Congestive heart failure, Pulmonary arterial hypertension, Thrombocytopenia |
OMIM:619751 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Wide anterior fon... |
ORPHA:95715 |
Anaplastic Thyroid Carcinoma |
|
Neoplasm of the skeletal system, Laryngotracheal stenosis, Tracheoesophageal fistula, Abnormal sk... |
ORPHA:142 |
Culler-Jones Syndrome |
|
Ectopic posterior pituitary, Short stature, Anterior pituitary hypoplasia, Postaxial polydactyly,... |
OMIM:615849 |
Premature Aging Syndrome, Penttinen Type |
|
Aplasia of the nasal bone, Hyperextensibility of the knee, Micrognathia, Hypoplasia of the maxill... |
OMIM:601812 |
Meacham Syndrome |
|
Hypoplasia of penis, Crossed fused renal ectopia, Ventricular septal defect, Congenital diaphragm... |
ORPHA:3097 |
Ververi-Brady Syndrome |
|
Smooth philtrum, Thin upper lip vermilion, Wide nose, Short stature, Broad nasal tip, Prominent n... |
OMIM:617982 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Choanal atresia, Aplasia/Hypoplasia of the cerebellum, Hypoplasia of the maxilla, Hydrocephalus, ... |
ORPHA:93262 |
20P12.3 Microdeletion Syndrome |
|
Wolff-Parkinson-White syndrome, Broad hallux phalanx, Atrial septal defect, Depressed nasal bridg... |
ORPHA:261295 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Increased circulating free T4 concentration, Diabetes mellitus, Goiter, Elevated circulating thyr... |
OMIM:274300 |
Wt Limb-Blood Syndrome |
|
Pancytopenia, Cryptorchidism, Leukemia, Hypoplastic anemia, Thrombocytopenia |
OMIM:194350 |
Joubert Syndrome With Hepatic Defect |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Orofacial cleft, Chorioretinal coloboma, A... |
ORPHA:1454 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Cataract, Ventricular septal defect, Recu... |
ORPHA:2772 |
Transcobalamin Deficiency |
|
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia |
ORPHA:859 |
Thyrocerebroretinal Syndrome |
|
Thrombocytopenia, Goiter |
OMIM:274240 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Acute myeloid leukemia, Acute monocytic leukemia, Epistaxis, Impaired platelet aggregation, Abnor... |
OMIM:601399 |
3M Syndrome |
|
Congenital hip dislocation, Micromelia, Short neck, Abnormal cerebral vascular morphology, Increa... |
ORPHA:2616 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:616171 |
Schneckenbecken Dysplasia |
|
Polyhydramnios, Short neck, Lateral clavicle hook, Snail-like ilia, Narrow chest, Nonimmune hydro... |
OMIM:269250 |
Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
Stüve-Wiedemann Syndrome |
|
Osteopenia, Micromelia, Metaphyseal widening, Flexion contracture, Knee flexion contracture, Smoo... |
ORPHA:3206 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Meckel diverticulum, Dandy-Walker malformation, Cerebellar vermis hypoplasia, Posteriorly rotated... |
ORPHA:163961 |
Frontorhiny |
|
Hypoplasia of the maxilla, Finger clinodactyly, Basal encephalocele, Iris coloboma, Low-set, post... |
ORPHA:391474 |
Coffin-Siris Syndrome 12 |
|
Micrognathia, Synophrys, Low anterior hairline, Protruding ear, High palate, Gastroesophageal ref... |
OMIM:619325 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Decreased response to growth hormone stimulation test, Accelerated skeletal maturation, Gastroint... |
ORPHA:293987 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Brachydactyly, Short stature, Micromelia, Craniosynostosis, Micrognathia, Abno... |
ORPHA:2145 |
Monosomy 9Q22.3 |
|
Short neck, Palmar pits, Accelerated skeletal maturation, Cardiac fibroma, Orofacial cleft, Odont... |
ORPHA:77301 |
Malaria |
|
Anemia, Thrombocytopenia |
ORPHA:673 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Palpebral edema, Retroperitoneal fibrosis, Facial edema, Enlarged lacrimal glands, Thyr... |
ORPHA:79078 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Abnormality of the spleen, Hepatic fibrosis, Bacterial endocarditis, Papilledema, Hepatosplenomeg... |
ORPHA:2072 |
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
|
Narrow nasal bridge, Irregularity of vertebral bodies, Overhanging nasal tip, Cataract, Short sta... |
ORPHA:85172 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Short metatarsal, Abnormal hip joint morphology, Arthralgia of the hip, Hypoplasia of the ulna, B... |
ORPHA:1856 |
Wolcott-Rallison Syndrome |
|
Acute hepatic failure, Neonatal insulin-dependent diabetes mellitus, Dehydration, Iron deficiency... |
ORPHA:1667 |
Spondyloenchondrodysplasia |
|
Decreased response to growth hormone stimulation test, Bowing of the legs, Pectus carinatum, Hypo... |
ORPHA:1855 |
Postaxial Tetramelic Oligodactyly |
|
Abnormal finger morphology, Ectrodactyly, Oligodactyly, Abnormal metacarpal morphology |
ORPHA:2730 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Osteopenia, Chronic gastritis, Mandibular prognathia, Mild postnatal growth retardation, Single t... |
OMIM:150230 |
Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Adrenal hypoplasia, Anemia, Leukopenia, Thrombocytopenia |
OMIM:619151 |
Orofaciodigital Syndrome Xvii |
|
Prominent metopic ridge, Median cleft lip, Short stature, Prominent nose, Short neck, High, narro... |
OMIM:617926 |
Distal Xq28 Microduplication Syndrome |
|
Short stature, Epistaxis, Short lingual frenulum, Broad nasal tip, Metatarsus adductus, Patent fo... |
ORPHA:293939 |
Cantú Syndrome |
|
Short neck, Cardiomegaly, Accelerated skeletal maturation, Low anterior hairline, Narrow chest, B... |
ORPHA:1517 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Deep philtrum, High palate, Clinodactyly of the 5th finger, Vertebral fusion, Syndactyly, Antever... |
OMIM:227330 |
Isolated Pierre Robin Syndrome |
|
Glossoptosis, Cleft palate, Micrognathia |
ORPHA:718 |
Lamb-Shaffer Syndrome |
|
Mild postnatal growth retardation, Broad nasal tip, Micrognathia, Optic atrophy, Fused cervical v... |
ORPHA:530983 |
Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Abnormal intervertebral disk morphology, Coxa vara, Arthralgia of the hip, Lumbar hyperlordosis, ... |
ORPHA:99642 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Dilated fourth ventricle, Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Sin... |
OMIM:613443 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... |
OMIM:613812 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Short neck, Micrognathia, Absent frontal sinuses, Synophrys, Renal cyst, High palate,... |
OMIM:102500 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Short neck, Lateral clavicle hook, Micrognathia, Preaxial polydactyly, Long thorax, Absent nasal ... |
OMIM:617925 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Recurrent respiratory infections, Posteriorly rotated ears, Choanal atresia, Aplasia/Hypoplasia o... |
ORPHA:2759 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Short neck, Delayed epiphyseal ossification, Flexion contracture, Rhizo-meso-acromelic limb short... |
OMIM:611717 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Hyperintensity of MRI T2 sign... |
ORPHA:79139 |
Craniofacioskeletal Syndrome |
|
Micrognathia, Short philtrum, Short palm, Atrial septal defect, Clinodactyly of the 5th finger, B... |
OMIM:300712 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Back pain, Bicuspid aortic valve, Single transverse palmar crease, High, narrow palate, Synophrys... |
OMIM:619475 |
Treacher Collins Syndrome 1 |
|
Sparse lower eyelashes, Choanal atresia, Cleft soft palate, Micrognathia, Cryptorchidism, Cleft p... |
OMIM:154500 |
Hemoglobin D Disease |
|
Pallor |
ORPHA:90039 |
Cerebrofacioarticular Syndrome |
|
Osteopenia, Irregular dentition, Cerebellar vermis hypoplasia, Micrognathia, Hypoplasia of the ma... |
ORPHA:314679 |
Monosomy 13Q14 |
|
Abnormality of the gastrointestinal tract, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Ca... |
ORPHA:1587 |
Hartsfield Syndrome |
|
Syndactyly, Wide nose, Median cleft lip, Posteriorly rotated ears, Diabetes insipidus, Craniosyno... |
OMIM:615465 |
Pyle Disease |
|
Delayed eruption of teeth, Metaphyseal dysplasia, Mandibular prognathia, Persistence of primary t... |
OMIM:265900 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Micrognathia, Metaphyseal chondrodysplasia, Renal cyst, Chiari type I malformation, Broad columel... |
ORPHA:166035 |
Neonatal Lupus Erythematosus |
|
Prolonged QT interval, Hemolytic anemia, Pancytopenia, Aplastic anemia, Heart block, Thrombocytop... |
ORPHA:398124 |
Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Tongue atrophy, Poliosis, Kyphosis, Dental malocclusion, Horner syndro... |
OMIM:141300 |
Autosomal Dominant Robinow Syndrome |
|
Hypoplasia of penis, Micromelia, Short neck, Micrognathia, High, narrow palate, Abnormality of th... |
ORPHA:3107 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Ventricular septal defect, Howell-Jolly bodies, Portal inflammation, Elevated circulating alanine... |
OMIM:613759 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Edema, Goiter, Delayed proximal femoral epiphyseal ossification, Elevated circulating thyroid-sti... |
ORPHA:90673 |
Beta-Thalassemia |
|
Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Chol... |
ORPHA:848 |
Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia |
OMIM:278780 |
Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
Neurooculocardiogenitourinary Syndrome |
|
Redundant neck skin, Ventricular septal defect, Cardiomegaly, Atrial septal defect, Microphthalmi... |
OMIM:618652 |
Pendred Syndrome |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation,... |
OMIM:274600 |
Hall-Riggs Syndrome |
|
Metaphyseal dysplasia, Depressed nasal bridge, Anteverted nares, Prominent nose, Kyphosis, Hypopl... |
OMIM:234250 |
Lethal Kniest-Like Dysplasia |
|
Polyhydramnios, Short neck, Edema, Hypoplastic vertebral bodies, Narrow chest, Atrial septal defe... |
ORPHA:2347 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Rhizomelia, Short stature, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Hy... |
ORPHA:163966 |
German Syndrome |
|
Abnormal eyebrow morphology, Depressed nasal bridge, Camptodactyly of finger, Short stature, Shor... |
ORPHA:2077 |
Quebec Platelet Disorder |
|
Joint hemorrhage, Epistaxis, Thrombocytopenia, Impaired epinephrine-induced platelet aggregation |
OMIM:601709 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
|
Epiphyseal dysplasia, Enlarged epiphyses, Depressed nasal bridge, Anteverted nares, Sensorineural... |
OMIM:184840 |
Joubert Syndrome 35 |
|
Multicystic kidney dysplasia, Cerebellar vermis hypoplasia, Depressed nasal bridge, Anteverted na... |
OMIM:618161 |
Arboleda-Tham Syndrome |
|
Mandibular prognathia, Anteverted ears, Bilateral cryptorchidism, Secundum atrial septal defect, ... |
OMIM:616268 |
Insulin-Resistance Syndrome Type B |
|
Osteoarthritis, Fasting hyperinsulinemia, Leukopenia, Abnormal salivary gland morphology, Nephrit... |
ORPHA:2298 |
Facial Clefting, Oblique, 1 |
|
Microphthalmia |
OMIM:600251 |
Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hyperextensibility of the finger joints, Intracranial hemorrhage, Short philtrum, Capillary heman... |
ORPHA:163979 |
American Trypanosomiasis |
|
Edema, Periorbital edema, Myocarditis, Cardiomyopathy, Pallor |
ORPHA:3386 |
Autosomal Recessive Stickler Syndrome |
|
Epiphyseal dysplasia, Retinal detachment, Cataract, Short stature, Micrognathia, Sensorineural he... |
ORPHA:250984 |
Lathosterolosis |
|
Bilobate gallbladder, Micrognathia, High palate, Conductive hearing impairment, Thick upper lip v... |
OMIM:607330 |
Cyclic Vomiting Syndrome |
|
Cardiomyopathy, Pallor |
OMIM:500007 |
Folate Malabsorption, Hereditary |
|
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia |
OMIM:229050 |
Mucopolysaccharidosis Type 4 |
|
Joint dislocation, Short neck, Pectus carinatum, Reduced bone mineral density, Anteverted nares, ... |
ORPHA:582 |
Snakebite Envenomation |
|
Tachycardia, Epistaxis, Myocardial infarction, Intracranial hemorrhage, Cerebral ischemia, Hypote... |
ORPHA:449285 |
Cerebellofaciodental Syndrome |
|
Single transverse palmar crease, Short neck, Hypoplasia of the pons, Clinodactyly of the 5th fing... |
OMIM:616202 |
Craniosynostosis And Dental Anomalies |
|
Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Coronal craniosynostosis, High... |
OMIM:614188 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Osteopenia, Mandibular prognathia, Proximal placement of thumb, Short neck, Sparse hair, Short st... |
OMIM:212066 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Bicuspid aortic valve, Short neck, Micrognathia, Metaphyseal widening, Flexion contracture, Delay... |
OMIM:271640 |
Cofs Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:1466 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... |
OMIM:613854 |
Wildervanck Syndrome |
|
Facial palsy, Short neck, Congenital sensorineural hearing impairment, Meningocele, Low posterior... |
ORPHA:3456 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Microphthalmia, Occipital encephalocele |
ORPHA:324416 |
Coach Syndrome 2 |
|
Elevated hepatic transaminase, Cerebellar vermis hypoplasia, Congenital hepatic fibrosis, Hydroce... |
OMIM:619111 |
Miller-Dieker Lissencephaly Syndrome |
|
Single transverse palmar crease, Polyhydramnios, Micrognathia, Clinodactyly of the 5th finger, Pe... |
OMIM:247200 |
Immune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Thrombocytopenia, Epistaxis, Cerebral hemorrhage |
ORPHA:3002 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Polyhydramnios, Hypoplasia of the thymus, Sparse hair, Hashimoto thyroiditis, Peritoneal abscess,... |
ORPHA:436252 |
Wilson Disease |
|
Acute hepatic failure, Edema, Osteoarthritis, Pedal edema, Aminoaciduria, Hepatic steatosis, Hypo... |
OMIM:277900 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Cerebellar vermis hypoplasia, Lateral clavicle hook, Hydrops fetalis, Pectus carinatum, Hepatic f... |
OMIM:263520 |
3-Methylglutaconic Aciduria Type 4 |
|
Cardiomyopathy, Thrombocytopenia |
ORPHA:67048 |
Hyperparathyroidism, Transient Neonatal |
|
Communicating hydrocephalus, Osteopenia, Hyperparathyroidism, Polyhydramnios, Femoral bowing, Gas... |
OMIM:618188 |
Cat Eye Syndrome |
|
Micrognathia, Biliary atresia, Chorioretinal coloboma, Atrial septal defect, Vesicoureteral reflu... |
OMIM:115470 |
Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Optic disc hypoplasia, Decreased response to growth hormone stimulation test, Congeni... |
ORPHA:3455 |
Chondroectodermal Dysplasia With Night Blindness |
|
Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Abnormality of the knee, Short stature, ... |
ORPHA:319195 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia |
OMIM:274270 |
Adams-Oliver Syndrome |
|
Leukopenia, Pulmonary artery atresia, Sparse hair, Encephalocele, Finger syndactyly, Alopecia, Pr... |
ORPHA:974 |
Holt-Oram Syndrome |
|
Abnormal clavicle morphology, Paroxysmal atrial fibrillation, First degree atrioventricular block... |
ORPHA:392 |
Gillespie Syndrome |
|
Cerebellar atrophy, Hypoplasia of the iris, Cerebellar hypoplasia, Aniridia, Truncus arteriosus, ... |
OMIM:206700 |
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant |
|
Micrognathia, Dental malocclusion, Anotia, Atresia of the external auditory canal, Camptodactyly,... |
OMIM:608257 |
Cousin Syndrome |
|
Short neck, Micrognathia, Prominent protruding coccyx, Low anterior hairline, Microcornea, Hypopl... |
OMIM:260660 |
Alg9-Cdg |
|
Villous atrophy, Short neck, Micrognathia, Abnormal lung lobation, Hydrops fetalis, Large fleshy ... |
ORPHA:79328 |
Mosaic Trisomy 20 |
|
Micrognathia, Vertebral segmentation defect, Narrow chest, Limited pronation/supination of forear... |
ORPHA:1724 |
Acro-Renal-Mandibular Syndrome |
|
Abnormal clavicle morphology, Congenital diaphragmatic hernia, Short neck, Micrognathia, Hemivert... |
ORPHA:958 |
Igg4-Related Thyroid Disease |
|
Nodular goiter, Pancreatic fibrosis, Retroperitoneal fibrosis, Thyrotoxicosis with diffuse goiter... |
ORPHA:64744 |
Feingold Syndrome |
|
Hallux valgus, Brachydactyly, Toe syndactyly, Anteverted nares, Depressed nasal bridge, Short sta... |
ORPHA:1305 |
Phosphoglycerate Dehydrogenase Deficiency |
|
Decreased testicular size, Thrombocytopenia, Megaloblastic anemia |
OMIM:601815 |
Marshall Syndrome |
|
Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Clinodactyly of the 5th finger, Small ... |
OMIM:154780 |
Congenital Alveolar Capillary Dysplasia |
|
Bicuspid aortic valve, Asplenia, Atrial septal defect, Atrioventricular canal defect, Abnormal ve... |
ORPHA:210122 |
Rheumatic Fever |
|
Pericarditis, Abnormal heart valve morphology, Myocarditis, Erythema, Endocarditis, Abnormal aort... |
ORPHA:3099 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Abnormal pinna morphology, Ventricular septal defect, Short neck, Cleft upper lip, Sensorineural ... |
OMIM:214300 |
Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
Aredyld Syndrome |
|
Mandibular prognathia, Refractory anemia with ringed sideroblasts, Advanced eruption of teeth, Lo... |
ORPHA:1133 |
Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Severe short stature, Short neck, Missing ribs, Hemivertebrae, D... |
OMIM:122600 |
Joubert Syndrome 13 |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia |
OMIM:614173 |
Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Dark yellow urine, Atretic gallbladder, Splenomegaly... |
ORPHA:30391 |
Pontocerebellar Hypoplasia Type 10 |
|
Highly arched eyebrow, Underdeveloped nasal alae, Optic atrophy, Wide nasal bridge, Abnormal brai... |
ORPHA:411493 |
Arima Syndrome |
|
Cerebellar vermis hypoplasia, Brainstem dysplasia, Hypoplasia of the brainstem, Hepatic fibrosis,... |
OMIM:243910 |
Distal 22Q11.2 Microduplication Syndrome |
|
Mandibular prognathia, Micrognathia, Depressed nasal ridge, Protruding ear, High palate, Short ph... |
ORPHA:261337 |
Alkuraya-Kucinskas Syndrome |
|
Edema, Micrognathia, Hypoplasia of the brainstem, High palate, Micropenis, Dandy-Walker malformat... |
OMIM:617822 |
Acromesomelic Dysplasia 4 |
|
Mandibular prognathia, Thoracic scoliosis, Accelerated skeletal maturation, Synophrys, Short meta... |
OMIM:619636 |
Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Cardiom... |
ORPHA:439 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Metaphyseal dysplasia, Short stature, Short middle phalanx of the 2nd finger, Hypoplasia of the m... |
OMIM:156510 |
Dysosteosclerosis |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Incre... |
ORPHA:1782 |
Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serrat... |
ORPHA:239 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Rectoperineal fistula, Ventricular septal defect, Cryptorchidism, Sensorineural hearing impairmen... |
OMIM:618748 |
Velocardiofacial Syndrome |
|
Abnormality of the ear, Unilateral primary pulmonary dysgenesis, Pulmonary artery atresia, Hypopa... |
OMIM:192430 |
Platyspondylic Dysplasia, Torrance Type |
|
Polyhydramnios, Micromelia, Abnormal carpal morphology, Hydrops fetalis, Narrow chest, Short palm... |
ORPHA:85166 |
Ulnar Hemimelia |
|
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... |
ORPHA:93320 |
Isolated Exencephaly |
|
Depressed nasal bridge, Anterior pituitary hypoplasia, Maternal diabetes, Polyhydramnios, Abnorma... |
ORPHA:563612 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... |
OMIM:300835 |
X-Linked Sideroblastic Anemia |
|
Pallor |
ORPHA:75563 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Beaking of vertebral bodies, Coarse metaphyseal trabecularization, Depressed nasal bridge, Anteve... |
OMIM:618961 |
Hydrolethalus Syndrome 2 |
|
Micrognathia, Hydrocephalus, Postaxial hand polydactyly, Anencephaly, Cleft palate, Postaxial foo... |
OMIM:614120 |
Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint... |
ORPHA:93284 |
Microcephaly With Cervical Spine Fusion Anomalies |
|
Spinal cord compression, Vertebral fusion, Short stature, Spinal instability |
OMIM:251250 |
Multiple Endocrine Neoplasia, Type Iib |
|
Colonic diverticula, Joint laxity, Aganglionic megacolon, Hyperlordosis, Pectus excavatum, High, ... |
OMIM:162300 |
Aorta Coarctation |
|
Pseudocoarctation of the aorta, Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Pa... |
ORPHA:1457 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal... |
OMIM:170390 |
Aicardi-Goutieres Syndrome 6 |
|
Splenomegaly, Hemolytic anemia, Thrombocytopenia |
OMIM:615010 |
Tetramelic Monodactyly |
|
Split hand, Oligodactyly |
ORPHA:2564 |
Cardiomyopathy, Dilated, 2H |
|
Secundum atrial septal defect, Muscular ventricular septal defect, Reduced left ventricular eject... |
OMIM:620203 |
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Epistaxis, Anemia of inadequate production, Acanthocytosis, Poikilocytosis, Congenital thrombocyt... |
OMIM:300367 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Short stature, Camptodactyly of finger, Prominent nasal bridge, Tapered finger, Hypoplasia of the... |
ORPHA:85279 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Campomelic Dysplasia |
|
Irregular dentition, Thoracic scoliosis, Cervical kyphosis, Polyhydramnios, Anterior tibial bowin... |
OMIM:114290 |
Arterial Tortuosity Syndrome |
|
Myocardial infarction, Coxa vara, Gastroesophageal reflux, Clinodactyly of the 5th finger, Kerato... |
ORPHA:3342 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Multiple joint contractures, Short neck, Secundum atrial septal defect, Metaphyseal widening, Sub... |
ORPHA:99646 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Nonimmune hydrops fetalis, Pericardia... |
OMIM:619313 |
Dislocation Of The Hip-Dysmorphism Syndrome |
|
Abnormality of the knee, Prominence of the premaxilla, Congenital hip dislocation, Anteverted nar... |
ORPHA:2412 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Mandibular prognathia, Retinal detachment, Rieger anomaly, Tented upper lip vermilion, Prominent ... |
ORPHA:521445 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
11 pairs of ribs, Decreased fetal movement, Hyperextensibility of the finger joints, Recurrent re... |
OMIM:618356 |
Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Thrombocytopenia |
OMIM:616435 |
Fanconi Anemia, Complementation Group J |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:609054 |
Sengers Syndrome |
|
Cardiac arrest, Sudden cardiac death, Pulmonary arterial hypertension, Hypertrophic cardiomyopath... |
OMIM:212350 |
Achondrogenesis Type 1B |
|
Thickened nuchal skin fold, Severe short stature, Anteverted nares, Polyhydramnios, Short neck, M... |
ORPHA:93298 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Polyhydramnios, Micrognathia, Aortopulmonary window, Pulmonary artery hypoplasia, Clinodactyly of... |
OMIM:620025 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Hydrocele testis, Congenital adrenal hyperplasia, Thrombocytopenia, Increased serum testosterone ... |
ORPHA:96181 |
Brachyolmia Type 1, Hobaek Type |
|
Back pain, Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiph... |
OMIM:271530 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Epistaxis, Thrombocytopenia, Retinal hemorrhage, Reticulocytopenia, Neutropenia, An... |
ORPHA:88 |
17Q12 Microduplication Syndrome |
|
Atrial septal defect, Microphthalmia, Polyhydramnios |
ORPHA:261272 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Mandibular prognathia, Anteverted nares, Depressed nasal bridge, Sandal gap, Prominent nose, Abno... |
ORPHA:2180 |
Osteoglophonic Dysplasia |
|
Osteopenia, Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Short metatarsal, Erupt... |
OMIM:166250 |
Babesiosis |
|
Hemolytic anemia, Myocardial infarction, Congestive heart failure, Splenomegaly, Leukopenia, Thro... |
ORPHA:108 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... |
OMIM:619662 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia |
OMIM:120433 |
Auriculocondylar Syndrome 2A |
|
Overfolding of the superior helices, Posteriorly rotated ears, Dental crowding, Micrognathia, Nar... |
OMIM:614669 |
Myhre Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Epispadias, Short palm, Large iliac wing, Bifid... |
ORPHA:2588 |
Isolated Congenital Hypoglossia/Aglossia |
|
Micrognathia, Temporomandibular joint ankylosis, Aplasia/Hypoplasia of fingers, Cleft palate, Asp... |
ORPHA:141152 |
Matthew-Wood Syndrome |
|
Microphthalmia, Anophthalmia, Intrauterine growth retardation |
ORPHA:2470 |
Elsahy-Waters Syndrome |
|
Mandibular prognathia, Bilateral cryptorchidism, Hypoplasia of the maxilla, Synophrys, Anteriorly... |
OMIM:211380 |
Cerebrocostomandibular Syndrome |
|
Congenital hip dislocation, Polyhydramnios, Micrognathia, Ectopic kidney, Renal cyst, Anteriorly ... |
OMIM:117650 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Short lingual frenulum, Dental crowding, Short neck, Micrognathia, Orofacial cleft, Downturned co... |
OMIM:180700 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... |
ORPHA:79302 |
Hypomandibular Faciocranial Dysostosis |
|
Recurrent respiratory infections, Anteverted nares, Aplasia/Hypoplasia of the tongue, Polyhydramn... |
ORPHA:1790 |
Caudal Regression Syndrome |
|
Ureteral duplication, Decreased muscle mass, Maternal diabetes, Ectopic kidney, Abnormal iliac wi... |
ORPHA:3027 |
Mucopolysaccharidosis, Type Iiid |
|
Thoracic scoliosis, Thickened ribs, Short neck, Synophrys, Ovoid thoracolumbar vertebrae, Hypopla... |
OMIM:252940 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia |
OMIM:614830 |
Aymé-Gripp Syndrome |
|
Congenital diaphragmatic hernia, Chiari type I malformation, Oligodontia, Clinodactyly of the 5th... |
ORPHA:1272 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Short stature, Narrow mouth, Wide nasal bridge, Growth delay, Downturned corners of mouth, Wide m... |
OMIM:617333 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Enlarged joints, Micrognathia, Flexion contracture, Prominent interphalangeal joints, Aplasia/Hyp... |
OMIM:215150 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Lateral clavicle hook, Shoulder dislocation, Conductive hearing ... |
OMIM:171480 |
Yunis-Varon Syndrome |
|
Congenital hip dislocation, Cerebellar vermis hypoplasia, Anterior concavity of thoracic vertebra... |
OMIM:216340 |
Microphthalmia, Syndromic 8 |
|
Microphthalmia, Premature skin wrinkling |
OMIM:601349 |
Pseudodiastrophic Dysplasia |
|
Smooth philtrum, Lumbar hyperlordosis, Anteverted nares, Rhizomelia, Phalangeal dislocation, Shor... |
OMIM:264180 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Decreased response to growth hormone stimulation test, Cardiomegaly, Corneal arcus, Joint contrac... |
OMIM:602782 |
Hutchinson-Gilford Progeria Syndrome |
|
Dental crowding, Short lingual frenulum, Myocardial infarction, Micrognathia, Osteoarthritis, Red... |
ORPHA:740 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Anophthalmia, Edema, Lymphedema, Skin ulcer, Scaling skin, Chylothorax, Atrial septal defect, Mic... |
ORPHA:2526 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Congenital muscular torticollis, Mixed hearing impairment, Unilateral renal agenesis, Short neck,... |
OMIM:118100 |
Stickler Syndrome |
|
Joint dislocation, Skeletal muscle atrophy, Micrognathia, Hypoplasia of the maxilla, Osteoarthrit... |
ORPHA:828 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Ileal atresia, Polyhydramnios, Hypoplasia of the thymus, Psoriasiform dermatitis, Leukocytosis, T... |
OMIM:243150 |
Cerebrooculonasal Syndrome |
|
Anophthalmia |
ORPHA:66625 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Synophrys, Cholecystitis, Broad ribs, Broad metacarpals, Hepatomegaly, Depressed nasal bridge, Hy... |
OMIM:301066 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Metaphyseal widening, Coxa vara, Femoral bowing, Tibial bowing, Narrow greater sciatic notch, Hyp... |
OMIM:608940 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Aortic valve atresia, Pedal edema, Aortopulmonary window, Absent pulse, Si... |
ORPHA:2299 |
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome |
|
Holoprosencephaly |
ORPHA:2523 |
Myh9-Related Disease |
|
Spontaneous, recurrent epistaxis, Increased mean platelet volume, Myocardial infarction, Giant pl... |
ORPHA:182050 |
Congenital Heart Defects, Multiple Types, 5 |
|
Atrial fibrillation, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomyopathy, Do... |
OMIM:617912 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypertrophic cardiomyopathy, Pallor |
ORPHA:276556 |
Microphthalmia With Brain And Digit Anomalies |
|
Microphthalmia, Anophthalmia |
ORPHA:139471 |
Bangstad Syndrome |
|
Pancytopenia, Severe short stature, Insulin-resistant diabetes mellitus, Primary gonadal insuffic... |
OMIM:210740 |
Cholesteryl Ester Storage Disease |
|
Hypertriglyceridemia, Adrenal calcification, Portal hypertension, Bone-marrow foam cells, Hypersp... |
OMIM:278000 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormally ossified vertebrae, Restricted large joint movement, Maternal diabetes, Micrognathia, ... |
ORPHA:93346 |
Venous Malformations, Multiple Cutaneous And Mucosal |
|
Intestinal bleeding, Venous malformation |
OMIM:600195 |
Familial Adenomatous Polyposis |
|
Duodenal polyposis, Astrocytoma, Brain neoplasm, Soft tissue neoplasm, Angiofibromas, Multiple ga... |
ORPHA:733 |
Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Abnormal medulla oblongata morphology, Abnormal m... |
ORPHA:206448 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Goiter, Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of t... |
OMIM:600791 |
Leigh Syndrome |
|
Skeletal muscle atrophy, Multiple joint contractures, Gastrointestinal dysmotility, Abnormal opti... |
ORPHA:506 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Aortic regurgitation, Macrothrombocytopenia, Neutropenia, Decreased platelet glycoprotein Ib, Thr... |
OMIM:603585 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Knee flexion contracture, Pectus carinatum, Downturned corners of mouth, Clinodactyly of the 5th ... |
ORPHA:488642 |
Congenital Contractural Arachnodactyly |
|
Congenital kyphoscoliosis, Arachnodactyly, Camptodactyly of finger, Intestinal malrotation, Ectop... |
ORPHA:115 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Joint stiffness, Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Agenesis of corpus callos... |
ORPHA:2182 |
2Q24 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:1617 |
Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
Desbuquois Dysplasia 2 |
|
Dental crowding, Single transverse palmar crease, Short neck, Metaphyseal widening, Synophrys, Pe... |
OMIM:615777 |
Kleefstra Syndrome 1 |
|
Mandibular prognathia, Single transverse palmar crease, Synophrys, Conotruncal defect, Gastroesop... |
OMIM:610253 |
Cat-Eye Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:195 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Thrombocytopenia, Splenomegaly, Hepat... |
ORPHA:158057 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multicystic kidney dysplasia, Postaxial hand polydactyly, Multinodular goiter, Triphalangeal thum... |
ORPHA:2091 |
Fanconi Anemia, Complementation Group F |
|
Decreased response to growth hormone stimulation test, Polyhydramnios, Leukopenia, Microphallus, ... |
OMIM:603467 |
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Irregularity of vertebral bodies, Epiphyseal dysplasia, Flat distal femoral epiphysis, Short stat... |
OMIM:609324 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Cerebellar atrophy, Tricuspid regurgitation, Bicuspid aortic valve, Ventric... |
OMIM:620066 |
Bleeding Disorder, Platelet-Type, 17 |
|
Gastrointestinal hemorrhage, Increased RBC distribution width, Epistaxis, Macrothrombocytopenia, ... |
OMIM:187900 |
Joubert Syndrome 9 |
|
Encephalocele, Cataract, Retinal dystrophy, Stage 5 chronic kidney disease, Astigmatism, Hepatic ... |
OMIM:612285 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pallor |
ORPHA:276608 |
Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Thrombocytopenia |
OMIM:615008 |
Waardenburg Syndrome, Type 2E |
|
White eyelashes, White eyebrow, Aplasia of the semicircular canal, Pectus excavatum, Sensorineura... |
OMIM:611584 |
Anauxetic Dysplasia 1 |
|
Mandibular prognathia, Short neck, Thoracic kyphosis, Short palm, Cervical cord compression, Micr... |
OMIM:607095 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Decreased response to growth hormone stimulation test, Premature thelarche, Protruding ear, Hypop... |
ORPHA:268261 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Retinopathy, Tongue atrophy, Optic atrophy, Dysphagia |
ORPHA:216873 |
Developmental And Epileptic Encephalopathy 80 |
|
Tented upper lip vermilion, Uplifted earlobe, Micrognathia, High palate, Triphalangeal thumb, Tap... |
OMIM:618580 |
Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
Hypophosphatasia, Infantile |
|
Polyhydramnios, Bowing of the legs, Micromelia, Intracranial hemorrhage, Nephrocalcinosis, Unossi... |
OMIM:241500 |
Limb-Mammary Syndrome |
|
Cleft hard palate, Protruding ear, Aplasia of the ovary, Clinodactyly of the 5th finger, Bifid uv... |
ORPHA:69085 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Osteopenia, Mandibular prognathia, Subglottic stenosis, Metaphyseal widening, Laryngotracheomalac... |
OMIM:271510 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Lumbar hyperlordosis, Decreased hip abduction, Flat capital femoral epiphysis, Disproportionate s... |
OMIM:609223 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... |
OMIM:616217 |
Autosomal Recessive Malignant Osteopetrosis |
|
Bone pain, Reduced bone mineral density, Narrow chest, Otitis media, Hepatomegaly, Pulmonary arte... |
ORPHA:667 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Tachycardia, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilo... |
ORPHA:35858 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypertrophic cardiomyopathy, Pallor |
ORPHA:276575 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia |
OMIM:314000 |
Joubert Syndrome 28 |
|
Joint laxity, Optic disc pallor, Highly arched eyebrow, Wide nasal bridge, Pigmentary retinopathy... |
OMIM:617121 |
Eec Syndrome |
|
Aplasia/Hypoplasia of the thumb, Decreased response to growth hormone stimulation test, Proximal ... |
ORPHA:1896 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Postnatal growth retardation, Splenomegaly, Growth d... |
OMIM:613027 |
Baller-Gerold Syndrome |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, Abnormal carpal morphology, Anteriorly placed anus... |
ORPHA:1225 |
Pulmonary Atresia-Intact Ventricular Septum Syndrome |
|
Premature birth, Maternal diabetes, Patent ductus arteriosus, Abnormal tricuspid valve morphology... |
ORPHA:1208 |
Acrorenal Syndrome |
|
Hand oligodactyly |
OMIM:102520 |
Cockayne Syndrome Type 2 |
|
Intrauterine growth retardation, Anophthalmia |
ORPHA:90322 |
Ramos-Arroyo Syndrome |
|
Xerostomia, Choanal stenosis, Smooth tongue, Atrial septal defect, Anteverted nares, Depressed na... |
ORPHA:1051 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Metaphyseal chondrodysplasia, Abnormal thorax morphology, Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Cerebellar atrophy, Joint laxity, Short stature, Coxa valga, Elbow dislocation, Pierre-Robin sequ... |
OMIM:620269 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypertrophic cardiomyopathy, Pallor |
ORPHA:276580 |
Fucosidosis |
|
Cardiomegaly, Anterior beaking of thoracic vertebrae, Flexion contracture, Vacuolated lymphocytes... |
OMIM:230000 |
Isovaleric Acidemia |
|
Thrombocytopenia, Leukopenia, Cerebellar hemorrhage, Pancytopenia |
OMIM:243500 |
Spondyloepiphyseal Dysplasia Congenita |
|
Limited elbow movement, Short neck, Coxa vara, Pectus carinatum, Delayed calcaneal ossification, ... |
OMIM:183900 |
Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Limited elbow movement, Short neck, Micrognathia, Reduced bone mineral density, Glosso... |
ORPHA:94068 |
Joubert Syndrome 7 |
|
Encephalocele, Retinal dystrophy, Brainstem dysplasia, Postaxial polydactyly, Postaxial hand poly... |
OMIM:611560 |
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities |
|
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Micrognathia, Absent stapes he... |
OMIM:128980 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Microretrognathia, Abnormal clavicle morphology, Abnormality of the philtrum, Hypospadias, Abnorm... |
ORPHA:276422 |
Immunodeficiency 46 |
|
Neutropenia, Anemia, Intermittent thrombocytopenia |
OMIM:616740 |
Marshall-Smith Syndrome |
|
Accelerated skeletal maturation, Reduced bone mineral density, Conductive hearing impairment, Gen... |
ORPHA:561 |
Marcus-Gunn Syndrome |
|
Abnormal ear morphology, Abnormal fifth cranial nerve morphology, Choanal atresia, Morning glory ... |
ORPHA:91412 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Short neck, Bowing of the legs, Micrognathia, Depressed nasal ridge, Knee flexion con... |
OMIM:271665 |
Cortical Dysplasia, Complex, With Other Brain Malformations 15 |
|
Thin upper lip vermilion, Thick eyebrow, Hypoplasia of the maxilla, Bulbous nose, Synophrys, Opti... |
OMIM:618737 |
Oculocerebrocutaneous Syndrome |
|
Congenital hip dislocation, Congenital diaphragmatic hernia, Orofacial cleft, Iris coloboma, Dand... |
ORPHA:1647 |
Townes-Brocks Syndrome |
|
Hypoplasia of penis, Ectopic kidney, Anteriorly placed anus, Triphalangeal thumb, Chorioretinal c... |
ORPHA:857 |
Oxoglutaric Aciduria |
|
Skeletal muscle atrophy, Short stature, Hydrocephalus, Abnormal urine alpha-ketoglutarate concent... |
ORPHA:31 |
Goldberg-Shprintzen Syndrome |
|
Short neck, Hypoplasia of the maxilla, Synophrys, Hypoplasia of the brainstem, Oligodontia, Short... |
OMIM:609460 |
Multiple Endocrine Neoplasia Type 2 |
|
Multiple mucosal neuromas, Prominent corneal nerve fibers, Elevated circulating parathyroid hormo... |
ORPHA:653 |
Subaortic Stenosis-Short Stature Syndrome |
|
Low-set, posteriorly rotated ears, Inguinal hernia, Anteverted nares, Bilateral single transverse... |
ORPHA:3191 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Wide nose, Sacral dimple, Depressed nasal bridge, Short stature, Ventricular septal defect, Broad... |
OMIM:619995 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim... |
ORPHA:174 |
Pierpont Syndrome |
|
Microphthalmia, Excessive wrinkling of palmar skin |
ORPHA:487825 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... |
ORPHA:93314 |
Acrodysostosis |
|
Mandibular prognathia, Micromelia, Accelerated skeletal maturation, Hypoplasia of the maxilla, De... |
ORPHA:950 |
Symphalangism, Proximal, 1A |
|
Carpal synostosis, Stapes ankylosis, Tarsal synostosis, Aplasia/Hypoplasia of the middle phalange... |
OMIM:185800 |
Proteus-Like Syndrome |
|
Communicating hydrocephalus, Mandibular prognathia, Thymus hyperplasia, Cataract, Anteverted nare... |
ORPHA:2969 |
Biliary Atresia, Extrahepatic |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... |
OMIM:210500 |
Vacterl With Hydrocephalus |
|
Anophthalmia, Polyhydramnios, Spina bifida, Microphthalmia, Intrauterine growth retardation |
ORPHA:3412 |
Mohr Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ... |
OMIM:252100 |
Non-Acquired Panhypopituitarism |
|
Osteopenia, Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, A... |
ORPHA:90695 |
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Cerebellar atrophy, Proximal muscle weakness in upper limbs, Tongue atrophy, Kyphoscoliosis, Uppe... |
ORPHA:496689 |
Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, Dental crowding, Sclerocornea, Micrognathia, Lateral clavicle hook, Hig... |
OMIM:600920 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Omphalocele, Ventricular septal defect, Diastasis recti, Polyhydramnios, Postnatal growth retarda... |
ORPHA:254534 |
Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Congenital posterior occipital alopecia, Precocious ... |
ORPHA:79414 |
Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Stiff neck, Short stature, Kyphoscoliosis, Coxa valga, Hypoplastic ilia, Joint stiffness, Trismus... |
OMIM:616583 |
Carpenter Syndrome 2 |
|
Single transverse palmar crease, Short neck, Bilateral cryptorchidism, High, narrow palate, Preax... |
OMIM:614976 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Polyhydramnios, Short neck, Micromelia, Narrow chest, Neonatal short-limb short stature, Severe l... |
OMIM:151210 |
Ring Chromosome 22 Syndrome |
|
Edema, Protruding tongue, Lymphedema, Bulbous nose, Neurofibroma, 2-3 toe syndactyly, Growth dela... |
ORPHA:1446 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Rhizomelia, Short stature, Metaphyseal cupping, Hydrocephalus, Depressed nasal ... |
OMIM:300863 |
Achondroplasia |
|
Limited hip extension, Polyhydramnios, Bowing of the legs, Generalized joint laxity, Femoral bowi... |
OMIM:100800 |
Genetic Transient Congenital Hypothyroidism |
|
Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of... |
ORPHA:226316 |
Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor... |
OMIM:311300 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Pulmonary embolism, Megaloblastic anemia, Hydrops fetalis, Dehydration, Neutropenia, Intrauterine... |
ORPHA:79282 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Irregularity of vertebral bodies, Enlarged epiphyses, Wrist swelling, Coxa vara, Abnormal shoulde... |
ORPHA:1159 |
Pendred Syndrome |
|
Hyperparathyroidism, Sensorineural hearing impairment, Hypoplasia of the cochlea, Abnormality of ... |
ORPHA:705 |
Andersen-Tawil Syndrome |
|
Abnormality of dental color, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Oligodonti... |
ORPHA:37553 |
Joubert Syndrome 16 |
|
Encephalocele, Retinal dystrophy, Renal cyst, Coloboma, Polydactyly, Nephronophthisis, Molar toot... |
OMIM:614465 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Anteverted nares, Short stature,... |
ORPHA:2031 |
9Q21.13 Microdeletion Syndrome |
|
Wide nasal ridge, Craniosynostosis, Postnatal growth retardation, Cryptorchidism, Gastrointestina... |
ORPHA:531151 |
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency |
|
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Short stature, Decreas... |
ORPHA:67045 |
Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia |
ORPHA:83461 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Hyperlordosis, Exercise-induced myoglobinuria, Kyphosis, Achilles tendon contra... |
OMIM:607155 |
Bleeding Disorder, Platelet-Type, 21 |
|
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... |
OMIM:617443 |
Microphthalmia, Syndromic 13 |
|
Microphthalmia |
OMIM:300915 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... |
ORPHA:189427 |
Spontaneous Periodic Hypothermia |
|
Pallor |
ORPHA:29822 |
Fetal Iodine Deficiency Disorder |
|
Congenital hypothyroidism, Congenital goiter, Hearing impairment |
OMIM:228355 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
Limb Body Wall Complex |
|
Congenital diaphragmatic hernia, Amniotic constriction ring, Abnormality of the liver, Cutaneous ... |
ORPHA:2369 |
Costello Syndrome |
|
Hyperextensibility of the finger joints, Polyhydramnios, Short neck, Limited elbow movement, Micr... |
OMIM:218040 |
Sarcoidosis |
|
Abnormal nasal mucosa morphology, Heart block, Abnormal lung morphology, Increased T cell count, ... |
ORPHA:797 |
Thanatophoric Dysplasia, Type I |
|
Champagne cork sign, Polyhydramnios, Short neck, Femoral bowing, Narrow chest, Neonatal death, Sm... |
OMIM:187600 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Ivory epiphyses of the phalanges of the hand, Irregular vertebral endplates, High palate, Barrel-... |
OMIM:226980 |
Distal Duplication 5Q |
|
Micrognathia, Aplasia/Hypoplasia of the gallbladder, Chorioretinal coloboma, Hypoplasia of the ul... |
ORPHA:96097 |
Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Polyhydramnios, Short neck, Bowing of the legs, Micromeli... |
OMIM:200600 |
Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
Cardiac Valvular Dysplasia 1 |
|
Edema, Arteria lusoria, Hydrops fetalis, Atrial septal defect, Pulmonary artery atresia, Patent f... |
OMIM:212093 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia |
OMIM:610023 |
Mannosidosis, Alpha B, Lysosomal |
|
Mandibular prognathia, Increased vertebral height, Vacuolated lymphocytes, Depressed nasal ridge,... |
OMIM:248500 |
8Q22.1 Microdeletion Syndrome |
|
Short neck, Hypoplasia of the maxilla, Depressed nasal ridge, Finger syndactyly, Underfolded heli... |
ORPHA:178303 |
Cronkhite-Canada Syndrome |
|
Lymphedema, Hamartomatous polyposis, Neoplasm, Stomach cancer, Dystrophic fingernails, Intestinal... |
ORPHA:2930 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Rieger anomaly, Short stature, Abnormal auditory evoked potentials, Coxa valga, Hypoplasia of the... |
OMIM:109120 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Mandibular prognathia, Retinal detachment, Cataract, Optic nerve hypoplasia, Hearing impairment, ... |
OMIM:620157 |
Myopathy, Myofibrillar, 7 |
|
Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Limited hip extensi... |
OMIM:617114 |
H Syndrome |
|
Microcytic anemia, Corneal arcus, Micropenis, Alopecia, Psoriasiform dermatitis, Short stature, C... |
ORPHA:168569 |
Occipital Horn Syndrome |
|
Osteopenia, Venous insufficiency, High, narrow palate, Coxa vara, Humerus varus, Pectus carinatum... |
ORPHA:198 |
Thrombocytopenia 3 |
|
Thrombocytopenia, Epistaxis, Decreased mean platelet volume |
OMIM:273900 |
Trisomy 8Q |
|
Hypoplasia of penis, Short neck, Micrognathia, Orofacial cleft, Protruding ear, Long thorax, High... |
ORPHA:1752 |
Joubert Syndrome 40 |
|
Molar tooth sign on MRI, Depressed nasal bridge, Optic nerve hypoplasia, Postaxial polydactyly |
OMIM:619582 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Irregular vertebral endplates, Narrow greater sciatic notch, Hypoplastic iliac wing, Lumbar hyper... |
OMIM:609616 |
Joubert Syndrome 22 |
|
Agenesis of cerebellar vermis, Postaxial hand polydactyly, 2-3 toe syndactyly, Renal hypoplasia, ... |
OMIM:615665 |
Intellectual Disability, Buenos-Aires Type |
|
Mandibular prognathia, Short stature, Abnormal dental morphology, Open bite, Dental malocclusion,... |
ORPHA:3079 |
Meckel Syndrome 13 |
|
Occipital encephalocele, Micrognathia, Flexion contracture, Cerebellar hypoplasia, Polycystic kid... |
OMIM:617562 |
Loeys-Dietz Syndrome 4 |
|
Bicuspid aortic valve, High, narrow palate, Abnormal sternum morphology, High palate, Emphysema, ... |
OMIM:614816 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Short stature, Camptodactyly of finger, Micromelia, Decreased nerve conduction velocity, Furrowed... |
ORPHA:2928 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Increased intervertebral space, Metaphyseal widening, Irregular vertebral endplates, T lymphocyto... |
OMIM:607944 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Coxa vara, Pectus carinatum, Narrow greater sciatic notch, Club-shaped proximal femur, Hyperlordo... |
OMIM:184250 |
Kcnq2-Related Epileptic Encephalopathy |
|
Pallor, Cerebral edema, Facial erythema |
ORPHA:439218 |
Orofaciodigital Syndrome Type 5 |
|
High, narrow palate, Agenesis of corpus callosum, Bifid uvula, Cleft soft palate, Accessory oral ... |
ORPHA:2919 |
Joubert Syndrome 15 |
|
Retinal dystrophy, Preaxial polydactyly, Exencephaly, Coloboma, Nephronophthisis, Molar tooth sig... |
OMIM:614464 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Osteopenia, Sparse hair, Joint contracture, Joint laxity, Short stature, Increased susceptibility... |
OMIM:615349 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Arteria lusoria, Abnormal aortic arch morphology, Aortopulmonary window, Atrial septal defect, Pu... |
ORPHA:99050 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Increased circulating androstenedione concentration, Congen... |
ORPHA:90791 |
Opsismodysplasia |
|
Polyhydramnios, Short neck, Edema, Hypoplastic vertebral bodies, Narrow chest, Short palm, Short ... |
OMIM:258480 |
Moebius Syndrome |
|
Skeletal muscle atrophy, Aplasia/Hypoplasia of the thumb, Micrognathia, Aplasia of the pectoralis... |
ORPHA:570 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology, Short stature |
ORPHA:2435 |
Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Sinusitis, Abnormal heart valve morphology, Ovoid vertebral bodies, Short n... |
ORPHA:583 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Split-Hand/Foot Malformation 1 |
|
Syndactyly, Broad hallux, Abnormal pinna morphology, Split hand, Hand oligodactyly, Cleft palate,... |
OMIM:183600 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P... |
OMIM:618728 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Brachydactyly, Short stature, Aplasia/Hypoplasia of the fibula, Short foot, Growth delay, Aplasia... |
ORPHA:52056 |
Melnick-Needles Syndrome |
|
Micrognathia, Narrow chest, Vesicoureteral reflux, Anisospondyly, Short stature, Short thorax, Ab... |
ORPHA:2484 |
Spondyloocular Syndrome |
|
Osteopenia, Lymphedema, Pectus carinatum, Atrial septal defect, Dysplastic aortic valve, Long toe... |
OMIM:605822 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Osteopenia, Cardiomegaly, Synophrys, Abnormal thymus morphology, High palate, Lumbar hemivertebra... |
ORPHA:2463 |
Mowat-Wilson Syndrome |
|
Uplifted earlobe, Pectus carinatum, Microcornea, Widely spaced teeth, Chorioretinal coloboma, Atr... |
OMIM:235730 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Short neck, Femoral bowing, Prem... |
OMIM:616723 |
Dyggve-Melchior-Clausen Disease |
|
Mandibular prognathia, Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Fe... |
OMIM:223800 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Atrophic gastritis, Chronic active hepatitis, Asplenia, Nephrocalcinosis, Perifoveal ring of hype... |
OMIM:240300 |
Charcot-Marie-Tooth Disease Type 1F |
|
Hand muscle atrophy, Absent brainstem auditory responses, Skeletal muscle atrophy, Urinary incont... |
ORPHA:101085 |
Juberg-Hayward Syndrome |
|
Abnormal finger morphology, Orofacial cleft, Anteriorly placed anus, Abnormality of the wrist, Ab... |
ORPHA:2319 |
Holoprosencephaly-Craniosynostosis Syndrome |
|
Abnormality of retinal pigmentation, Short stature, Craniosynostosis, Coxa valga, Delayed skeleta... |
ORPHA:2163 |
Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... |
OMIM:619802 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Epistaxis, Increased mean platelet volume, Splenomegaly, Thrombocytopenia, Impa... |
OMIM:153670 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Abnormality of the epiphysis of the femoral head, Polyhydramnios, Micrognathia, Coxa vara, Gastro... |
ORPHA:93316 |
Biemond Syndrome Type 2 |
|
Microphthalmia |
ORPHA:141333 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Recurrent respiratory infections, Psoriasiform dermatitis, Eosinophilic infiltration of the esoph... |
OMIM:615508 |
Cardiomyopathy, Dilated, 2D |
|
Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def... |
OMIM:619371 |
Wildervanck Syndrome |
|
Fused cervical vertebrae, Pseudopapilledema, Webbed neck, Abnormality of the outer ear, Hearing i... |
OMIM:314600 |
Lissencephaly 8 |
|
Microphthalmia, Occipital encephalocele |
OMIM:617255 |
Three M Syndrome 2 |
|
Short neck, Protruding ear, Pectus carinatum, High palate, Intrauterine growth retardation, Scapu... |
OMIM:612921 |
Kawasaki Disease |
|
Abnormality of nail color, Edema, Sterile pyuria, Conjunctivitis, Cholecystitis, Recurrent pharyn... |
ORPHA:2331 |
Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Congest... |
OMIM:275000 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Inguinal hernia, Block vertebrae, Short neck, Missing ribs, Hemivertebrae, Rib ... |
OMIM:271520 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hepatomegaly, Telangiectasia of the skin, Lymphedema, Vertigo, Optic atrophy, Abnormal brainstem ... |
ORPHA:79279 |
Melioidosis |
|
Shock, Foot osteomyelitis, Liver abscess, Lung abscess, Pneumonia, Respiratory tract infection, A... |
ORPHA:31202 |
Recon Progeroid Syndrome |
|
Attached earlobe, Skeletal muscle atrophy, Dental crowding, Proximal placement of thumb, Absent l... |
OMIM:620370 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Mandibular prognathia, Cardiomegaly, Tricuspid regurgitation, Depressed nasal bridge, Abnormal at... |
ORPHA:324410 |
Holoprosencephaly 3 |
|
Depressed nasal bridge, Proboscis, Abnormality of the nose, Cleft lip, Single naris, Cleft palate... |
OMIM:142945 |
Caroli Syndrome |
|
Liver abscess, Cholangitis, Abnormal intrahepatic bile duct morphology, Leukopenia, Hepatomegaly,... |
ORPHA:480520 |
White Forelock With Malformations |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Atrial septal defect, Deep philtrum, Delaye... |
ORPHA:2475 |
Thyroid Dyshormonogenesis 5 |
|
Growth delay, Hypothyroidism, Goiter |
OMIM:274900 |
Thyroid Dyshormonogenesis 4 |
|
Growth delay, Hypothyroidism, Goiter |
OMIM:274800 |
Williams-Beuren Syndrome |
|
Osteopenia, Bicuspid aortic valve, Rectal prolapse, Flexion contracture, Chiari type I malformati... |
OMIM:194050 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Ureteral duplication, Neonatal insulin-dependent diabetes mellitus, Congenital diaphragmatic hern... |
ORPHA:2255 |
Sitosterolemia 1 |
|
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Xanthelasma, Stomatocytosis, Hy... |
OMIM:210250 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Short stature, Decrease... |
OMIM:613986 |
Cartilage-Hair Hypoplasia |
|
Fair hair, Sparse facial hair, Metaphyseal widening, Coxa vara, Femoral bowing, Narrow chest, Sho... |
OMIM:250250 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Peripheral opacification of the cornea, Micrognathia, Hypoplasia of the maxilla, Meta... |
OMIM:259600 |
Pentalogy Of Cantrell |
|
Congenital diaphragmatic hernia, Abnormal tibia morphology, Orofacial cleft, Abnormal sternum mor... |
ORPHA:1335 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Microphthalmia, Cardiomyopathy |
OMIM:613155 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Hypertension, Second degree... |
OMIM:617021 |
Pseudoachondroplasia |
|
Genu recurvatum, Limited hip extension, Spatulate ribs, Delayed epiphyseal ossification, Metaphys... |
OMIM:177170 |
Aspergillosis |
|
Sinusitis, Vitritis, Intracranial hemorrhage, Abnormal long bone morphology, Neutropenia, Abnorma... |
ORPHA:1163 |
Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Abnormality of the knee, Short stature, Restricted large joint movement, Disproportionate short-t... |
ORPHA:163665 |
Warsaw Breakage Syndrome |
|
Ventricular septal defect, Single transverse palmar crease, Postnatal growth retardation, Hypopla... |
OMIM:613398 |
Epiphyseal Dysplasia, Multiple, 7 |
|
Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Vertebra... |
OMIM:617719 |
Phocomelia, Schinzel Type |
|
Hypoplasia of penis, Micromelia, Short neck, Micrognathia, High, narrow palate, Abnormal tibia mo... |
ORPHA:2879 |
Thyroid Hormone Resistance, Generalized, Autosomal Dominant |
|
Increased circulating free T3, Increased circulating free T4 concentration, Impaired sensitivity ... |
OMIM:188570 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Tented upper lip vermilion, Facial capillary hemangioma, Synophrys, Aplasia of the distal phalanx... |
ORPHA:364577 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Gastrointestinal hemorrhage, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopen... |
OMIM:603909 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:48431 |
Marfan Syndrome |
|
Osteopenia, Skeletal muscle atrophy, Dental crowding, Limited elbow movement, Micrognathia, High,... |
ORPHA:558 |
Ollier Disease |
|
Chondrosarcoma, Micromelia, Joint stiffness, Precocious puberty, Visceral angiomatosis, Abnormal ... |
ORPHA:296 |
Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Ureteral stenosis, Abnormal hemidiaphragm morphology, Dextrocar... |
ORPHA:2257 |
Dysspondyloenchondromatosis |
|
Joint dislocation, Enlarged joints, Short stature, Kyphoscoliosis, Osteoarthritis, Generalized jo... |
ORPHA:85198 |
Isolated Split Hand-Split Foot Malformation |
|
Finger syndactyly, Sensorineural hearing impairment, Split hand, Absent hand, Aniridia, Oligodactyly |
ORPHA:2440 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Pancytopenia, Aplastic anemia, Splenomegaly, Vasculitis, Lymphocytosis, Hemophagocytosis, Neutrop... |
OMIM:308240 |
Spondyloperipheral Dysplasia |
|
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Pectus carinatum, Irregular... |
OMIM:271700 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia, Polyhydramnios |
ORPHA:2547 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Diffuse alveolar hemorrhage, Splenomegaly, Anemia, Reduced natural killer cell coun... |
OMIM:616050 |
Gray Platelet Syndrome |
|
Impaired thrombin-induced platelet aggregation, Epistaxis, Abnormal number of alpha granules, Spl... |
OMIM:139090 |
Cardiofacioneurodevelopmental Syndrome |
|
Cerebellar vermis hypoplasia, Ventricular septal defect, Micrognathia, Asplenia, Cryptorchidism, ... |
OMIM:619123 |
Raine Syndrome |
|
Mandibular prognathia, Micromelia, Short neck, Micrognathia, Protruding ear, Choanal stenosis, Hi... |
OMIM:259775 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Mandibular prognathia, Dental crowding, Bilateral cryptorchidism, Hypoplasia of the maxilla, Knee... |
OMIM:617402 |
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Dental crowding, Micrognathia, Premature rupture of membranes, Hypoplasia of the brainstem, Short... |
OMIM:618343 |
Nestor-Guillermo Progeria Syndrome |
|
Dental crowding, Limited elbow movement, Micrognathia, Flexion contracture, Rib osteolysis, Ather... |
OMIM:614008 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Enlarged joints, Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Pectus carinatum, Ha... |
OMIM:184252 |
Thyroid Dyshormonogenesis 3 |
|
Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter |
OMIM:274700 |
Occipital Horn Syndrome |
|
Persistent open anterior fontanelle, Pectus carinatum, Coarse hair, High palate, Narrow chest, Br... |
OMIM:304150 |
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
Harrod Syndrome |
|
Multicystic kidney dysplasia, Cataract, Arachnodactyly, Hypospadias, Long nose, Cryptorchidism, K... |
ORPHA:2115 |
Congenital Myopathy 22B, Severe Fetal |
|
Thoracic scoliosis, Tented upper lip vermilion, Dental crowding, Polyhydramnios, Short neck, Micr... |
OMIM:620369 |
Walker-Warburg Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:899 |
Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Metaphyseal dysplasia, Short stature, Bowing of the legs, Delayed skeletal maturation, Reduced bo... |
OMIM:617974 |
Maxillonasal Dysplasia |
|
Mandibular prognathia, Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the ... |
ORPHA:1248 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Recurrent respiratory infections, Cataract, Severe short stature, Delayed skeletal maturation, Ab... |
ORPHA:2643 |
Menkes Disease |
|
Micrognathia, Venous insufficiency, Intracranial hemorrhage, Narrow chest, Sparse hair, Woolly ha... |
ORPHA:565 |
Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Mandibular prognathia, Single transverse palmar crease, Synophrys, High palate, Prominent fingert... |
OMIM:617804 |
Mandibulofacial Dysostosis With Alopecia |
|
Alopecia, Hydroureter, Bicuspid aortic valve, Dental crowding, Delayed eruption of primary teeth,... |
OMIM:616367 |
Tsh-Secreting Pituitary Adenoma |
|
Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hy... |
ORPHA:91347 |
Sialuria |
|
Elevated hepatic transaminase, Hepatomegaly, Neuropathic spinal arthropathy, Thin upper lip vermi... |
ORPHA:3166 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Macrocytic anemia, Thrombocytopenia, Cardiomyopathy, Leukopenia, Anemia |
ORPHA:27 |
Thyroid Cancer, Nonmedullary, 4 |
|
Ovarian neoplasm, Basal cell carcinoma, Papillary thyroid carcinoma, Prostate cancer, Goiter |
OMIM:616534 |
Systemic Lupus Erythematosus |
|
Thrombocytopenia, Hemolytic anemia, Pericarditis, Leukopenia |
OMIM:152700 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Splenomegaly, Anemia, Cardiomyopathy, Neutropenia, Thrombocytopenia |
ORPHA:79312 |
Joubert Syndrome 32 |
|
Depressed nasal bridge, Abnormal cerebellum morphology, Postaxial hand polydactyly, Postaxial foo... |
OMIM:617757 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Short neck, Aplasia of the pect... |
ORPHA:2911 |
Grant Syndrome |
|
Joint dislocation, Bowing of the long bones, Depressed nasal bridge, Short stature, Micrognathia,... |
ORPHA:2097 |
Retinitis Pigmentosa 51 |
|
Pallor |
OMIM:613464 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Aniridia, Umbilical hernia, Anophthalmia, Tricuspid valve prolapse |
ORPHA:1101 |
Rhabdoid Tumor |
|
Hypertension, Thrombocytopenia, Internal hemorrhage, Anemia |
ORPHA:69077 |
Sotos Syndrome |
|
Ureteral duplication, Cerebellar vermis hypoplasia, Astrocytoma, Accelerated skeletal maturation,... |
ORPHA:821 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Adrenogenital syndrome, ... |
OMIM:202010 |
Gaucher Disease, Type I |
|
Pancytopenia, Epistaxis, Hypersplenism, Thrombocytopenia, Splenomegaly, Hypertension, Mitral regu... |
OMIM:230800 |
Retinal Dystrophy With Or Without Extraocular Anomalies |
|
Retinal dystrophy, Pulmonary fibrosis, Goiter |
OMIM:617175 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Microphthalmia, Ventricular septal defect |
OMIM:602501 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Abnormal intrahepatic bile duct morphology, Intracranial hemorrhage, Papillary renal cell carcino... |
ORPHA:363618 |
Atelis Syndrome 1 |
|
Leukopenia, Thrombocytopenia, Hypothyroidism, Anemia |
OMIM:620184 |
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Micrognathia, Pectus excavatum, Sensorineural hearing impairment, Osteoarthritis, Cleft palate, P... |
ORPHA:166100 |
Thyroid Cancer, Nonmedullary, 1 |
|
Papillary thyroid carcinoma, Non-medullary thyroid carcinoma, Goiter |
OMIM:188550 |
Greenberg Dysplasia |
|
Abnormal leukocyte morphology, Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathi... |
ORPHA:1426 |
Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Intestinal malrotation, Polyhydramnios, Abnormality of the pancreas... |
ORPHA:3032 |
Aicardi-Goutieres Syndrome 4 |
|
Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly |
OMIM:610333 |
Okamoto Syndrome |
|
Facial hypertrichosis, Tented upper lip vermilion, Urinary incontinence, Primum atrial septal def... |
ORPHA:2729 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Mandibular prognathia, Anal stenosis, Inguinal hernia, Hypospadias, Hypoplasia of the maxilla, Cr... |
OMIM:601499 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Lymphopenia, Thrombocytopenia |
OMIM:616744 |
Gallbladder Disease 1 |
|
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic f... |
OMIM:600803 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Delayed eruption of teeth, Short stature, Prominent nasal bridge, Sensorineural hearing impairmen... |
ORPHA:71267 |
Renpenning Syndrome 1 |
|
Mandibular prognathia, Brittle hair, Micrognathia, Protruding ear, Coloboma, High palate, Short p... |
OMIM:309500 |
Relapsing Fever |
|
Tachycardia, Neutrophilia, Epistaxis, Thrombocytopenia, Leukocytosis, Leukopenia, Hypotension, An... |
ORPHA:91547 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Pallor, Lymphedema |
ORPHA:3226 |
Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Tongue atrophy, Areflexia of upper limbs, Axonal degeneration, Upper limb muscle weakness, Talipe... |
OMIM:616155 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Short neck, Hemivertebrae, Femoral bowing, Pectus carinatum, High palate, Long ear, Foot oligodac... |
OMIM:276820 |
Mucopolysaccharidosis, Type X |
|
Spatulate ribs, Posterior scalloping of vertebral bodies, Widely spaced teeth, Broad ribs, Thicke... |
OMIM:619698 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Dental crowding, Micrognathia, Long nose, Hypoplasia of the maxilla, Microcornea, Persistent pupi... |
OMIM:257850 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, ... |
ORPHA:98850 |
Igg4-Related Submandibular Gland Disease |
|
Renal insufficiency, Cholangitis, Eosinophilia, Retroperitoneal fibrosis, Abnormality of the thyr... |
ORPHA:449432 |
Orofaciodigital Syndrome Type 3 |
|
Irregular dentition, Cerebellar vermis hypoplasia, Hamartoma of tongue, Abnormality of the dentit... |
ORPHA:2752 |
Bardet-Biedl Syndrome 1 |
|
Bone spicule pigmentation of the retina, Dental crowding, Hyperautofluorescent macular lesion, Hi... |
OMIM:209900 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Lateral clavicle hook, Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Micropenis, Ag... |
OMIM:613091 |
Thyroid Dyshormonogenesis 2A |
|
Decreased circulating T4 concentration, Hypothyroidism, Thyroid defect in oxidation and organific... |
OMIM:274500 |
Primary Myelofibrosis |
|
Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, Leukocytosis, ... |
ORPHA:824 |
Orofaciodigital Syndrome Xvi |
|
Inguinal hernia, Depressed nasal bridge, Hamartoma of tongue, Postaxial hand polydactyly, Postaxi... |
OMIM:617563 |
Clark-Baraitser syndrome |
|
Joint laxity, Exaggerated median tongue furrow, Anteverted nares, Genu recurvatum, Broad nasal ti... |
OMIM:300602 |
Pituitary Hormone Deficiency, Combined Or Isolated, 8 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin... |
OMIM:620303 |
Hermansky-Pudlak Syndrome 9 |
|
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia |
OMIM:614171 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Thrombocytopenia |
OMIM:614727 |
Diets-Jongmans Syndrome |
|
Thin upper lip vermilion, Inguinal hernia, Short stature, Ventricular septal defect, Congenital d... |
OMIM:618846 |
Blepharochalasis And Double Lip |
|
Blepharochalasis, Duplication of the upper lip, Goiter |
OMIM:109900 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia, Hypertrophic cardiomyopathy, Oligohydramnios |
OMIM:619053 |
Autosomal Dominant Brachyolmia |
|
Short stature, Kyphoscoliosis, Increased vertebral height, Short thorax, Platyspondyly, Abnormal ... |
ORPHA:93304 |
Right Atrial Isomerism |
|
Atrial septal defect, Right atrial isomerism, Inguinal hernia, Ventricular septal defect, Aortopu... |
OMIM:208530 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Urinary incontinence, Femoral bowing, Tibial bowing, Gastroesophageal reflux, Narrow chest, Neona... |
OMIM:616482 |
Vater/Vacterl Association |
|
Occipital encephalocele, Abnormal nasopharynx morphology, Laryngeal stenosis, Ectopic kidney, Pre... |
OMIM:192350 |
Deafness, Autosomal Dominant 87 |
|
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II |
OMIM:620281 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Portal hypertension, Thrombocytopenia, Cryptorchidism, Type I diabetes mellitus, Lymphopenia, Anemia |
OMIM:620365 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Microphthalmia, Ventricular septal defect |
OMIM:613730 |
Microtia |
|
Abnormal pinna morphology, Anotia, Microtia, Atresia of the external auditory canal, Holoprosence... |
ORPHA:83463 |
Camurati-Engelmann Disease |
|
Skeletal muscle atrophy, Abnormal tibia morphology, Craniofacial osteosclerosis, Bone pain, Abnor... |
ORPHA:1328 |
Hall-Riggs Syndrome |
|
Delayed eruption of teeth, Anteverted nares, Short stature, Abnormal dental enamel morphology, Pr... |
ORPHA:2107 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Single transverse palmar crease, Prominent nose, Narrow greater sciatic notch, Dislocated radial ... |
OMIM:617425 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Pallor |
ORPHA:324575 |
Wolfram Syndrome 1 |
|
Sideroblastic anemia, Diabetes mellitus, Diabetes insipidus, Megaloblastic anemia, Cardiomyopathy... |
OMIM:222300 |
Hypoglossia With Situs Inversus |
|
Micrognathia, Asplenia, Situs inversus totalis, Narrow mouth, High palate, Hypodontia, Low-set ea... |
OMIM:612776 |
Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
Chime Syndrome |
|
Depressed nasal ridge, Short philtrum, Short palm, Microdontia, Sparse hair, Abnormal dental morp... |
ORPHA:3474 |
Fibrous Dysplasia Of Bone |
|
Abnormal clavicle morphology, Abnormal tibia morphology, Bone pain, Abnormal femur morphology, Co... |
ORPHA:249 |
Craniometaphyseal Dysplasia, Autosomal Dominant |
|
Mandibular prognathia, Mixed hearing impairment, Dental crowding, Facial palsy, Metaphyseal widen... |
OMIM:123000 |
Holzgreve Syndrome |
|
Low-set, posteriorly rotated ears, Abnormally ossified vertebrae, Aplasia/Hypoplasia of the tongu... |
ORPHA:2167 |
Leukocyte Adhesion Deficiency Type Ii |
|
Mandibular prognathia, Severe periodontitis, Microcytic anemia, Deep philtrum, Depressed nasal ri... |
ORPHA:99843 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Hand muscle atrophy, Skeletal muscle atrophy, Tongue atrophy, Recurrent respiratory infections, F... |
OMIM:211530 |
Gm1-Gangliosidosis, Type I |
|
Thickened ribs, Short neck, Vacuolated lymphocytes, Depressed nasal ridge, Hydrops fetalis, Hypop... |
OMIM:230500 |
Thanatophoric Dysplasia, Type Ii |
|
Decreased fetal movement, Small abnormally formed scapulae, Polyhydramnios, Micromelia, Hypoplast... |
OMIM:187601 |
Bone Marrow Failure Syndrome 4 |
|
Leukopenia, Thrombocytopenia, Anemia |
OMIM:618116 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c... |
OMIM:618469 |
Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Retinal hemorrhage, Abnorm... |
ORPHA:86839 |
Osteogenesis Imperfecta, Type Ii |
|
Beaded ribs, Multiple prenatal fractures, Tibial bowing, Premature birth, Nonimmune hydrops fetal... |
OMIM:166210 |
Dyskeratosis Congenita |
|
Abnormality of neutrophils, Hypoplasia of the maxilla, Anorectal anomaly, White hair, Premature g... |
ORPHA:1775 |
Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Micromelia, Osteoarthritis, Abnormal carpal morphology, Short metatarsal, Coxa vara, Pectus carin... |
ORPHA:93351 |
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors |
|
Euthyroid multinodular goiter, Papillary thyroid carcinoma |
OMIM:138800 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Intrauterine growth retardation, Nonimmune hydrops fetalis, Pallor |
OMIM:266200 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Premature birth, Portal hypertensio... |
ORPHA:567983 |
Heterotaxy, Visceral, 2, Autosomal |
|
Intestinal malrotation, Dextrocardia, Asplenia, Bilateral superior vena cava, Situs inversus tota... |
OMIM:605376 |
Jeune Syndrome |
|
Abnormal clavicle morphology, Micromelia, Abnormality of the liver, Abnormal sternum morphology, ... |
ORPHA:474 |
Brachydactylous Dwarfism, Mseleni Type |
|
Osteopenia, Severe short stature, Protrusio acetabuli, Abnormal femoral head morphology, Short to... |
ORPHA:2619 |
Weill-Marchesani Syndrome 1 |
|
Hypoplasia of the maxilla, Broad ribs, Broad metacarpals, Lumbar hyperlordosis, Depressed nasal b... |
OMIM:277600 |
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome |
|
Laryngeal stenosis, Flexion contracture of the 2nd finger, Widely spaced teeth, Joint contracture... |
ORPHA:324540 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Abnormal nasopharynx morphology, Increased density of long bones, Single transverse palmar crease... |
OMIM:269150 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:617243 |
Brachyolmia Type 1, Toledo Type |
|
Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Childhood-onset short-trunk short... |
OMIM:271630 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Absence of Stensen duct, Xerostomia, Preaxial polydactyly, Radial deviation of the 3rd finger, Co... |
OMIM:149730 |
Thyroid Lymphoma |
|
Hyperthyroidism, Lymphoma, Lymphadenopathy, Dysphagia, Hypothyroidism, Hashimoto thyroiditis, Goiter |
ORPHA:97285 |
Pierpont Syndrome |
|
Microphthalmia |
OMIM:602342 |
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Brachydactyly, Short stature, Kyphoscoliosis, Bowing of the legs, Irregular vertebral endplates, ... |
OMIM:612847 |
Meningioma |
|
Back pain, Decreased circulating cortisol level, Urinary incontinence, Reduced circulating prolac... |
ORPHA:2495 |
Seckel Syndrome 9 |
|
Decreased fetal movement, Recurrent respiratory infections, Short stature, Ventricular septal def... |
OMIM:616777 |
Lymphoproliferative Syndrome 1 |
|
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Anemia, Leu... |
OMIM:613011 |
X-Linked Agammaglobulinemia |
|
Alopecia, Osteomyelitis, Short stature, Abnormality of the tonsils, Sinusitis, Malabsorption, Thr... |
ORPHA:47 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... |
ORPHA:786 |
Evans Syndrome |
|
Pallor, Petechiae |
ORPHA:1959 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Laryngeal stenosis, Short neck, Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal ... |
ORPHA:93352 |
Agel Amyloidosis |
|
Tongue atrophy, Cataract, Proteinuria, Facial palsy, Edema, Respiratory tract infection, Xerostom... |
ORPHA:85448 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Supraumbilical raphe, Cavernous hemangioma of the face, Coarctation of aorta, Right aortic arch, ... |
OMIM:140850 |
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Abnormality of retinal pigmentation, Facial palsy, Furrowed tongue |
ORPHA:2743 |
Vascular Ehlers-Danlos Syndrome |
|
Joint dislocation, Congenital hip dislocation, High, narrow palate, Abnormal pupil morphology, Ab... |
ORPHA:286 |
Immunodeficiency 32B |
|
Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocytopenia, Thromb... |
OMIM:226990 |
Kinsship Syndrome |
|
Osteopenia, Mandibular prognathia, Single transverse palmar crease, Short neck, Micrognathia, Syn... |
OMIM:619297 |
Sclerosteosis 1 |
|
Mandibular prognathia, Papilledema, Syndactyly, Depressed nasal bridge, Facial palsy, Sclerotic s... |
OMIM:269500 |
Craniotubular Dysplasia, Ikegawa Type |
|
Increased intervertebral space, Short palm, Broad ribs, Thick upper lip vermilion, Anteverted nar... |
OMIM:619727 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Flexion contracture, Xerostomia, Downturned corners of mouth, Chorioretinal hypopigme... |
ORPHA:398069 |
Split-Hand/Foot Malformation 3 |
|
Microretrognathia, Abnormal pinna morphology, Hypoplasia of the maxilla, Narrow mouth, Split hand... |
OMIM:246560 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Abnormal peripheral myelination, Urinary incontinence, Hand muscle weakness, Limb-girdle muscle w... |
ORPHA:466768 |
Platelet Disorder, Undefined |
|
Impaired platelet aggregation, Thrombocytopenia |
OMIM:173420 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Short stature, Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of fing... |
ORPHA:1436 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Cerebellar atrophy, Aciduria,... |
OMIM:203700 |
Warburg Micro Syndrome 1 |
|
Microphthalmia |
OMIM:600118 |
Myopathic Ehlers-Danlos Syndrome |
|
Pallor |
ORPHA:536516 |
Craniofacial-Deafness-Hand Syndrome |
|
Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Camptodactyly of finger, Ulnar dev... |
ORPHA:1529 |
Pulmonary Atresia With Intact Ventricular Septum |
|
Pulmonary artery atresia, Hypoplastic right heart |
OMIM:265150 |
Multiple Osteochondromas |
|
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... |
ORPHA:321 |
Thyroid Hormone Plasma Membrane Transport Defect |
|
Euthyroid hyperthyroxinemia, Goiter |
OMIM:188560 |
Deiodinase, iodothyronine, type I |
|
Euthyroid hyperthyroxinemia, Goiter |
OMIM:147892 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha... |
OMIM:617300 |
Juvenile Polyposis Syndrome |
|
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Cerebral arteriovenous malformat... |
ORPHA:2929 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Pallor |
OMIM:615631 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Laryngeal stenosis, Abnormal metatarsal morphology, Delayed epiphyseal ossification, Generalized ... |
ORPHA:93360 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Proportionate short stature, Flat capital femoral epiphysis, Delayed skeletal maturation, Genu va... |
OMIM:608361 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Microretrognathia, Finger syndactyly, Prominent nasal bridge, Aqueductal stenosis, Hand oligodact... |
ORPHA:1788 |
Orofaciodigital Syndrome Xix |
|
Downturned corners of mouth, Lobulated tongue, High palate, Microdontia, Thick nasal alae, Underf... |
OMIM:620107 |
Hypermobile Ehlers-Danlos Syndrome |
|
Joint dislocation, Venous insufficiency, Gastrointestinal dysmotility, Anorectal anomaly, Abnorma... |
ORPHA:285 |
Arthrogryposis, Distal, Type 5D |
|
Decreased muscle mass, Congenital hip dislocation, Limited elbow movement, Short neck, Micrognath... |
OMIM:615065 |
Aortic Valve Disease 2 |
|
Aortic regurgitation, Bicuspid aortic valve, Patent foramen ovale, Calcification of the aorta, Co... |
OMIM:614823 |
Carney Complex |
|
Pituitary growth hormone cell adenoma, Neoplasm of the stomach, Thyroid carcinoma, Papillary thyr... |
ORPHA:1359 |
Nablus Mask-Like Facial Syndrome |
|
Single transverse palmar crease, Short neck, Hypoplasia of the maxilla, Low anterior hairline, Hi... |
OMIM:608156 |
Gaucher Disease, Type Iii |
|
Splenomegaly, Pancytopenia, Thrombocytopenia |
OMIM:231000 |
Rapp-Hodgkin Syndrome |
|
Conical tooth, Hypoplasia of the maxilla, 2-3 toe cutaneous syndactyly, Microdontia, Sparse hair,... |
OMIM:129400 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral... |
OMIM:156500 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Capitate-hamat... |
OMIM:271650 |
Brachyolmia, Maroteaux Type |
|
Short stature, Pectus excavatum, Short thorax, Abnormal form of the vertebral bodies, Platyspondy... |
ORPHA:93302 |
Hartnup Disorder |
|
Glossitis, Short stature, Neutral hyperaminoaciduria |
OMIM:234500 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Osteopenia, Short stature, Sparse facial hair, Sparse axillary hair, Hypoplasia of the maxilla, S... |
OMIM:608154 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Polyhydramnios, Short neck, Edema, Hemivertebrae, Sparse hair, Dandy-Walker malformation, Rhizome... |
OMIM:302960 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Autoimmune thrombocytopenia, Anemia, Coombs-positive hemolytic anemia, Neutropenia,... |
OMIM:304790 |
Scleromyxedema |
|
Abnormality of the gastrointestinal tract, Transient ischemic attack, Abnormality of thyroid phys... |
ORPHA:167635 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Lens coloboma, Umbilical hernia, Pulmonic stenosis, Microphthalmia, Patent foramen ovale |
OMIM:618914 |
Hallermann-Streiff Syndrome |
|
Micrognathia, High, narrow palate, Reduced bone mineral density, Glossoptosis, Rib exostoses, Cli... |
ORPHA:2108 |
Meier-Gorlin Syndrome 3 |
|
Micrognathia, Hypoplasia of the maxilla, Coxa vara, Patellar hypoplasia, Gastroesophageal reflux,... |
OMIM:613803 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Papilledema, Ventricular septal defect, Alopecia totalis, Pericardi... |
OMIM:618775 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Micromelia, Short neck, Delayed epiphyseal ossification, Coxa vara, Narrow greater sciatic notch,... |
OMIM:602557 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Encephalocele, Microphthalmia, Intrauterine growth retardation, Oligohydramnios |
ORPHA:228390 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Proximal muscle weakness in upper limbs, Tongue atrophy, Decreased distal sensory nerve action po... |
ORPHA:99956 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Tented upper lip vermilion, Facial capillary hemangioma, Micrognathia, Synophrys, Aplasia of the ... |
OMIM:608670 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Microphthalmia |
OMIM:251270 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Intestinal malrotation, Short neck, Micrognathia, Patent ductus arteriosus, Bilateral cleft lip a... |
ORPHA:2001 |
Leishmaniasis |
|
Pallor, Skin ulcer |
ORPHA:507 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly, High, narrow palate, Descending thoracic aorta aneurysm, Abn... |
ORPHA:91387 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Low-set, posteriorly rotated ears, Skeletal muscle atrophy, Short stature, Recurrent fractures, P... |
ORPHA:1486 |
Tularemia |
|
Leukocytosis, Thrombocytopenia, Tachycardia, Anemia |
ORPHA:3392 |
Dental Anomalies And Short Stature |
|
Mandibular prognathia, Short stature, Hypoplasia of the maxilla, Delayed skeletal maturation, Hyp... |
OMIM:601216 |
Gorlin-Chaudhry-Moss Syndrome |
|
Short stature, Sclerocornea, Abnormality of the dentition, Hypoplasia of the maxilla, Patent duct... |
ORPHA:2095 |
Medullary Thyroid Carcinoma |
|
Neoplasm of the skeletal system, Primary hyperparathyroidism, Dysphagia, Abnormal liver parenchym... |
ORPHA:1332 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Polyhydramnios, Proximal placement of thumb, Urethral atresia, Neonatal death, Atrioventricular c... |
OMIM:314390 |
Thrombocytopenia, Paris-Trousseau Type |
|
Thrombocytopenia |
OMIM:188025 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microphthalmia, Dilated cardiomyopathy |
OMIM:618805 |
Fibrochondrogenesis 2 |
|
Anteverted nares, Thoracic hypoplasia, Hypoplastic ischia, Micrognathia, Hypoplastic ilia, Cupped... |
OMIM:614524 |
Dravet Syndrome |
|
Pallor |
ORPHA:33069 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Hypoplasia of the maxilla, Finger clinodactyly, Pectoral muscle hypoplasia/aplasia, Aplasia/Hypop... |
ORPHA:306542 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Megaloblastic anemia, Cystathioninuria, High palate, Neutropenia, Atrial septal defect, Homocysti... |
OMIM:277380 |
Steinert Myotonic Dystrophy |
|
Skeletal muscle atrophy, Tented upper lip vermilion, Prolonged QRS complex, Decreased response to... |
ORPHA:273 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Mandibular prognathia, Prominent nose, Short neck, High, narrow palate, Deep philtrum, Low anteri... |
OMIM:619950 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Micromelia, Bowing of the legs, Metaphyseal widening, Femoral bowing, Narrow greater sciatic notc... |
OMIM:608728 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Microphthalmia |
ORPHA:1473 |
Myotonic Dystrophy 1 |
|
Decreased fetal movement, Atrial flutter, Atrial fibrillation, Cataract, First degree atrioventri... |
OMIM:160900 |
Lymphatic Malformation 6 |
|
Polyhydramnios, Micrognathia, Edema, Facial edema, Lymphedema, Periorbital edema, Gastroesophagea... |
OMIM:616843 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Microphthalmia, Dry skin, Cutis laxa |
OMIM:612379 |
Mandibuloacral Dysplasia |
|
Alopecia, Dental crowding, Delayed cranial suture closure, Micrognathia, Postnatal growth retarda... |
ORPHA:2457 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Bone spicule pigmentation of the retina, Cataract, Osteomyelitis, Kyphosis, Gastrointestinal dysm... |
ORPHA:88628 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Toe clinodactyly, Arachnodactyly, Pectus excavatum, Secundum atrial septal defect, Pectus carinat... |
OMIM:619910 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Reduced circulating prolactin concentration, Delayed skeletal maturation, Elevated circulating th... |
ORPHA:99832 |
Joubert Syndrome 33 |
|
Molar tooth sign on MRI, Splenomegaly, Cone/cone-rod dystrophy, Syndactyly |
OMIM:617767 |
Von Willebrand Disease, Type 3 |
|
Impaired platelet aggregation, Joint hemorrhage, Epistaxis, Thrombocytopenia |
OMIM:277480 |
Deafness, Progressive, With Stapes Fixation |
|
Stapes ankylosis, Bilateral conductive hearing impairment |
OMIM:601449 |
Progressive Deafness With Stapes Fixation |
|
Stapes ankylosis, Bilateral conductive hearing impairment |
ORPHA:3235 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Single transverse palmar crease, Micromelia, Micrognathia, Preaxial polydactyly, Radial bowing, U... |
OMIM:617866 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bilateral microphthalmos, Bicuspid aortic valve, Unilateral microphthalmos |
OMIM:619318 |
Hypomandibular Faciocranial Dysostosis |
|
Pursed lips, Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Optic disc colobo... |
OMIM:241310 |
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Broad femoral neck, Tapered finger, Flat capital femoral epiphysis, Thenar muscle atr... |
ORPHA:157965 |
Osteopetrosis With Renal Tubular Acidosis |
|
Micrognathia, Cranial nerve compression, Leukopenia, High palate, Conductive hearing impairment, ... |
ORPHA:2785 |
Fibrochondrogenesis |
|
Micromelia, Short neck, Abnormal form of the vertebral bodies, Narrow chest, Broad ribs, Depresse... |
ORPHA:2021 |
Isolated Agammaglobulinemia |
|
Anemia, Thrombocytopenia, Abnormal lymphocyte morphology, Abnormality of neutrophils |
ORPHA:229717 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Prominent metopic ridge, Short stature, Wide nasal bridge, Fused cervical vertebrae, Short middle... |
OMIM:309620 |
Loeys-Dietz Syndrome 2 |
|
Bicuspid aortic valve, Micrognathia, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve... |
OMIM:610168 |
Auriculocondylar Syndrome 1 |
|
Overfolding of the superior helices, Posteriorly rotated ears, Dental crowding, Micrognathia, Ank... |
OMIM:602483 |
Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Wide nose, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Ta... |
OMIM:610017 |
Goiter, Multinodular 2 |
|
Euthyroid multinodular goiter |
OMIM:300273 |
Prader-Willi Syndrome |
|
Osteopenia, Decreased response to growth hormone stimulation test, Edema, Xerostomia, Downturned ... |
ORPHA:739 |
Atelosteogenesis, Type Iii |
|
Cervical kyphosis, Short neck, Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Knee dislo... |
OMIM:108721 |
Laubry-Pezzi Syndrome |
|
Aortic regurgitation, Aortic valve prolapse, Mildly reduced left ventricular ejection fraction, A... |
ORPHA:99094 |
Auriculocondylar Syndrome |
|
Abnormality of the temporomandibular joint, Dental crowding, Cleft helix, Micrognathia, Glossopto... |
ORPHA:137888 |
Dysostosis, Stanescu Type |
|
Persistent open anterior fontanelle, Micromelia, Short neck, Hypoplasia of the maxilla, Increased... |
ORPHA:1798 |
Portal Hypertension, Noncirrhotic, 2 |
|
Splenomegaly, Thrombocytopenia, Epistaxis, Portal hypertension |
OMIM:619463 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Depressed nasal bridge, Wide anterior fontanel, Decreased proportion of CD8-positive T cells, Bro... |
OMIM:617241 |
Myasthenic Syndrome, Congenital, 10 |
|
Decreased fetal movement, Tongue atrophy, Proximal amyotrophy, Distal amyotrophy, Weakness of fac... |
OMIM:254300 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, B lymphocytopenia, Neutropenia |
OMIM:150550 |
Orofaciodigital Syndrome Type 2 |
|
Micrognathia, Central retinal vessel vascular tortuosity, Protruding ear, Finger clinodactyly, Hi... |
ORPHA:2751 |
Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Thrombocytopenia, Anemia |
OMIM:615085 |
Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Short neck, Femoral bowing, Hypoplastic iliac wing, Atrial septal defect, Short tibia... |
OMIM:620076 |
Congenital Tracheal Stenosis |
|
Polyhydramnios, Fetal ascites, Ascending aorta hypoplasia, Abnormal lung morphology, Abnormal lun... |
ORPHA:141127 |
Rhabdomyosarcoma, Embryonal, 2 |
|
Ovarian thecoma, Pleuropulmonary blastoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Nephr... |
OMIM:180295 |
Parkes Weber Syndrome |
|
Back pain, Abnormal femoral metaphysis morphology, Cerebral arteriovenous malformation, Hypertrop... |
ORPHA:90307 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Micromelia, Micrognathia, Hydrops fetalis, Renal cyst, Narrow chest, Absent ... |
ORPHA:93271 |
Diffuse Neonatal Hemangiomatosis |
|
Thrombocytopenia, Anemia |
ORPHA:2123 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Short stature, Prominent nasal bridge, Protruding tongue, Dysplastic corpus callosum, Recurrent p... |
OMIM:619179 |
Neurocardiofaciodigital Syndrome |
|
Cerebellar vermis hypoplasia, Sclerocornea, High palate, Vesicoureteral reflux, Sparse hair, Atri... |
OMIM:619869 |
Ring Chromosome 13 Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short neck, Micrognathia, High palate, Short philtrum, Micropeni... |
ORPHA:96176 |
Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Bicuspid aortic valve, Osteoarthritis, Knee osteoarthritis, Pectus ca... |
OMIM:613795 |
Branchioskeletogenital Syndrome |
|
Attached earlobe, Mandibular prognathia, Short neck, Upper limb peromelia, Hypoplasia of the maxi... |
ORPHA:1299 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Tachycardia, Neutrophilia, Eosinophilia, Splenomegaly,... |
ORPHA:98849 |
3Mc Syndrome 2 |
|
Limited elbow movement, Partial abdominal muscle agenesis, Downturned corners of mouth, High pala... |
OMIM:265050 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Thrombocytopenia, Anemia, Neutropenia |
ORPHA:289916 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Congenital diaphragmatic hernia, Micrognathia, High palate, Emphysema, Prominence of the premaxil... |
OMIM:614437 |
Dengue Fever |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Leukopenia, Hypotension, Thrombocyto... |
ORPHA:99828 |
Osteoarthritis With Mild Chondrodysplasia |
|
Heberden's node, Short stature, Joint stiffness, Knee osteoarthritis, Schmorl's node, Irregular v... |
OMIM:604864 |
Catastrophic Antiphospholipid Syndrome |
|
Angina pectoris, Transient ischemic attack, Myocardial infarction, Pulmonary embolism, Arterial o... |
ORPHA:464343 |
Osteopetrosis, Autosomal Recessive 4 |
|
Splenomegaly, Reticulocytosis, Anemia, Thrombocytopenia |
OMIM:611490 |
Familial Multiple Nevi Flammei |
|
Edema, Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Abnormality of the uppe... |
ORPHA:624 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Bowing of the legs, Coxa vara, Coloboma, Narrow greater sciatic notch, Short phalanx of finger, S... |
ORPHA:85167 |
Aortic Aneurysm, Familial Thoracic 9 |
|
Atrial fibrillation, Thoracic aortic aneurysm, Arachnodactyly, Pectus excavatum, Pectus carinatum... |
OMIM:616166 |
Cole-Carpenter Syndrome 2 |
|
Osteopenia, Microretrognathia, Wide cranial sutures, Short stature, Recurrent fractures, Pectus e... |
OMIM:616294 |
Burning Mouth Syndrome |
|
Abnormality of taste sensation, Abnormal fifth cranial nerve morphology, Parageusia, Abnormality ... |
ORPHA:353253 |
Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Thrombocytopenia, Anemia, Neutropenia |
OMIM:617475 |
Absent Radius-Anogenital Anomalies Syndrome |
|
Hydrocephalus, Rectal atresia, Hypoplasia of the radius, Perineal fistula, Rectovaginal fistula, ... |
ORPHA:3016 |
Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Intracranial hemorrhage, Inflammati... |
ORPHA:906 |
Malan Syndrome |
|
Mandibular prognathia, Hyperplasia of the premaxilla, Coxa valga, Pectus excavatum, Long fingers,... |
OMIM:614753 |
Chromosome 8Q22.1 Duplication Syndrome |
|
Hallux valgus, Laryngeal stenosis, Short metacarpal, Enlarged interphalangeal joints, Short statu... |
OMIM:151200 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Microphthalmia |
OMIM:619694 |
Heterotaxy, Visceral, 12, Autosomal |
|
Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atresia, Patent... |
OMIM:619702 |
Osteogenesis Imperfecta, Type V |
|
Osteopenia, Hyperextensibility of the finger joints, Wormian bones, Short stature, Recurrent frac... |
OMIM:610967 |
Charcot-Marie-Tooth Disease Type 4C |
|
Decreased motor nerve conduction velocity, Neuropathic spinal arthropathy, Tongue atrophy, Cerebe... |
ORPHA:99949 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Hyperlipidemia, Schistocytosis, Hypertension, Microangiopathic hemolytic anemia,... |
OMIM:235400 |
Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Ventricular septal defect, Hepatic fibrosis, Decreased liver function |
ORPHA:306550 |
Leprosy |
|
Skeletal muscle atrophy, Autoamputation of digits, Absent eyebrow, Alopecia, Epistaxis, Abnormali... |
ORPHA:548 |
Keipert Syndrome |
|
Broad hallux phalanx, Tented upper lip vermilion, Depressed nasal bridge, Prominent nasal bridge,... |
ORPHA:2662 |
Ivic Syndrome |
|
Limited elbow movement, Preaxial polydactyly, Pectoralis major hypoplasia, Triphalangeal thumb, H... |
OMIM:147750 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Abnormal intervertebral disk morphology, Cataract, Abnormal heart valve morphology, Pulmonary emb... |
ORPHA:1345 |
Marfan Syndrome |
|
Decreased muscle mass, Bicuspid aortic valve, Dental crowding, Genu recurvatum, Equinus calcaneus... |
OMIM:154700 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Transient neutropenia, Protruding ear, Tibial bowing, Spina bifida occulta, Long hallux, Multicys... |
ORPHA:500095 |
Osteogenesis Imperfecta, Type Ix |
|
Recurrent fractures, Beaded ribs, Pectus excavatum, Kyphosis, Multiple prenatal fractures, Dentin... |
OMIM:259440 |
Fibrodysplasia Ossificans Progressiva |
|
Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Alop... |
OMIM:135100 |
Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Common atrium, Right aortic arch, Abdominal situs inversus,... |
OMIM:614779 |
Alkaptonuria |
|
Arthropathy, Low back pain, Vertebral fusion, Mitral valve calcification, Coronary artery calcifi... |
OMIM:203500 |
Kyphomelic Dysplasia |
|
Micromelia, Micrognathia, Lateral clavicle hook, Femoral bowing, Tibial bowing, Pterygium, Short ... |
OMIM:211350 |
Joubert Syndrome 30 |
|
Cerebellar atrophy, Ventriculomegaly, Retinal dystrophy, Postaxial hand polydactyly, Molar tooth ... |
OMIM:617622 |
Ghosal Hematodiaphyseal Dysplasia |
|
Refractory anemia, Leukopenia, Thrombocytopenia |
OMIM:231095 |
Temtamy Syndrome |
|
Microphthalmia |
ORPHA:1777 |
Kikuchi-Fujimoto Disease |
|
Generalized lymphadenopathy, Oral ulcer, Leukopenia, Lymphocytosis, Neutropenia, Hepatomegaly, Al... |
ORPHA:50918 |
Marshall Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, High palate, Sparse hair, Thick upper li... |
ORPHA:560 |
Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Patent ductus arteriosus... |
ORPHA:1972 |
Non-Functioning Paraganglioma |
|
Pallor |
ORPHA:94080 |
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation |
|
Short greater sciatic notch, Platyspondyly, Anterior beaking of lumbar vertebrae, Coxa valga |
OMIM:271620 |
Acquired Purpura Fulminans |
|
Intracranial hemorrhage, Thrombocytopenia, Internal hemorrhage, Shock |
ORPHA:49566 |
Pontocerebellar Hypoplasia, Type 1B |
|
Cerebellar atrophy, Skeletal muscle atrophy, Tongue atrophy, Retinal dystrophy, Flexion contractu... |
OMIM:614678 |
Pseudodiastrophic Dysplasia |
|
Omphalocele, Rhizomelia, Phalangeal dislocation, Elbow dislocation, Platyspondyly, Talipes equino... |
ORPHA:85174 |
Joubert Syndrome 27 |
|
Molar tooth sign on MRI, Retinopathy, Thick lower lip vermilion, Polydactyly |
OMIM:617120 |
Idiopathic Pulmonary Hemosiderosis |
|
Pallor, Cardiomegaly |
ORPHA:99931 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Tachycardia, Hyperthyroidism, Rhabdomyolysis, Palpitations, Goiter |
OMIM:188580 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Hypertension, Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia |
OMIM:612924 |
Ellis Van Creveld Syndrome |
|
Abnormal oral mucosa morphology, Micromelia, Epispadias, Conical incisor, Narrow chest, Atrial se... |
ORPHA:289 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Pancytopenia, Diabetes mellitus, Thrombocytopenia, Leukopenia, Pulmonary arterial hypertension, A... |
OMIM:613845 |
Stt3B-Cdg |
|
Cryptorchidism, Thrombocytopenia |
ORPHA:370924 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Osteopenia, Renal insufficiency, Ulnar deviation of the hand, Corneal opacity, Ankle swelling, Co... |
OMIM:166300 |
Osteogenesis Imperfecta, Type X |
|
Osteopenia, Thoracic scoliosis, Micromelia, Micrognathia, Generalized joint laxity, Tibial bowing... |
OMIM:613848 |
Cog4-Cdg |
|
Hypercholesterolemia, Thrombocytopenia, Hepatosplenomegaly |
ORPHA:263501 |
Carney Complex, Type 1 |
|
Elevated circulating growth hormone concentration, Congestive heart failure, Pituitary adenoma, C... |
OMIM:160980 |
Fetal Gaucher Disease |
|
Pancytopenia, Abnormality of the spleen, Splenomegaly, Intracranial hemorrhage, Thrombocytopenia |
ORPHA:85212 |
Deafness, X-Linked 2 |
|
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... |
OMIM:304400 |
Irida Syndrome |
|
Pallor |
ORPHA:209981 |
Macrophage Activation Syndrome |
|
Hypertriglyceridemia, Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Abnormal natural kille... |
ORPHA:158061 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia |
ORPHA:1135 |
Joubert Syndrome 20 |
|
Postaxial polydactyly, 4-5 toe syndactyly, Renal cyst, Molar tooth sign on MRI, Retinopathy |
OMIM:614970 |
Antley-Bixler Syndrome |
|
Low-set, posteriorly rotated ears, Anteverted nares, Camptodactyly of finger, Choanal atresia, Ar... |
ORPHA:83 |
Developmental And Epileptic Encephalopathy 31B |
|
Protruding tongue, Optic atrophy, Gingival overgrowth, Colpocephaly, Low-set ears, Agenesis of co... |
OMIM:620352 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Hypertension, Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Hypertension, Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Hypertension, Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia |
OMIM:612926 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Left ventricular hypertrophy, Microphthalmia |
OMIM:613153 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:615181 |
Myelofibrosis |
|
Pallor, Purpura |
OMIM:254450 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Narrow ch... |
OMIM:250220 |
Developmental And Epileptic Encephalopathy 1 |
|
Microphthalmia |
OMIM:308350 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Osteopenia, Bicuspid aortic valve, Deep philtrum, Gastroesophageal reflux, Aspiration pneumonia, ... |
ORPHA:438213 |
Gaucher Disease Type 1 |
|
Osteopenia, Osteoarthritis, Bone pain, Pedal edema, Leukopenia, Avascular necrosis, Biliary tract... |
ORPHA:77259 |
Pseudohypoparathyroidism Type 1A |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:79443 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Decreased circulating cortisol level, Adrenal hyperplasia, Increased circulating ACTH level, Abno... |
ORPHA:90790 |
Tetraamelia Syndrome 1 |
|
Cataract, Choanal atresia, Congenital diaphragmatic hernia, Cleft upper lip, Asplenia, Micrognath... |
OMIM:273395 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Barrel-shaped chest, Joint laxity, Mandibular prognathia, Lumbar hyperlordosis, Posteriorly rotat... |
OMIM:612813 |
Pelger-Huet Anomaly |
|
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... |
OMIM:169400 |
Lymphedema-Distichiasis Syndrome |
|
Diabetes mellitus, Cataract, Predominantly lower limb lymphedema, Proteinuria, Cleft upper lip, P... |
ORPHA:33001 |
Propionic Acidemia |
|
Pancytopenia, Cerebellar hemorrhage, Anemia, Cardiomyopathy, Neutropenia, Thrombocytopenia |
OMIM:606054 |
Specc1L-Related Hypertelorism Syndrome |
|
Ectopic kidney, Orofacial cleft, Atrial septal defect, Clinodactyly of the 5th finger, Advanced e... |
ORPHA:1519 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Cryptorchidism, Thrombocytopenia |
OMIM:615597 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia |
OMIM:613839 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Type I diabetes m... |
OMIM:301078 |
Fanconi Anemia, Complementation Group W |
|
Decreased response to growth hormone stimulation test, Myelodysplasia, Absent thumb, Hypoplasia o... |
OMIM:617784 |
Ravine Syndrome |
|
Abnormal brainstem morphology, Abnormal auditory evoked potentials, Atrophy/Degeneration affectin... |
ORPHA:99852 |
Hydrolethalus Syndrome 1 |
|
Polyhydramnios, Micrognathia, Abnormal lung lobation, Severe hydrocephalus, Agenesis of corpus ca... |
OMIM:236680 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Mandibular prognathia, Short stature, Hypoplasia of the maxilla, Macrotia, Decreased testicular s... |
ORPHA:93950 |
Campomelia, Cumming Type |
|
Hepatomegaly, Abnormally ossified vertebrae, Brachydactyly, Bowing of the long bones, Multicystic... |
ORPHA:1318 |
Histiocytoid Cardiomyopathy |
|
Ventricular septal defect, Cardiomegaly, Pallor, Microphthalmia, Congenital aphakia, Pulmonary edema |
ORPHA:137675 |
Icf Syndrome |
|
Communicating hydrocephalus, Recurrent respiratory infections, Depressed nasal bridge, Short stat... |
ORPHA:2268 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Joint dislocation, Short stature, Camptodactyly of finger, Tapered finger, Aplasia/Hypoplasia of ... |
ORPHA:3201 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Joint dislocation, Knee flexion contracture, Femoral bowing, Short 5th metacarpal, Radial bowing,... |
OMIM:618019 |
Kaposi Sarcoma |
|
Abnormality of the gastrointestinal tract, Generalized lymphadenopathy, Lymphoproliferative disor... |
ORPHA:33276 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:615877 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Mandibular prognathia, Long palm, Prominent nasal bridge, Pectus excavatum, Kyphosis, Hypoplasia ... |
OMIM:300676 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Microphthalmia, Dehydration |
OMIM:214150 |
Aicardi-Goutieres Syndrome 5 |
|
Thrombocytopenia |
OMIM:612952 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Skeletal muscle atrophy, Alopecia, Ulnar deviation of the hand, Limb joint contracture, Hypogonad... |
OMIM:612079 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Microphthalmia, Umbilical hernia, Edema |
ORPHA:2505 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Flexion contracture, Femoral bowing, Choanal stenosis, Narrow chest, Atrial septal defect, Depres... |
OMIM:207410 |
Necrotizing Enterocolitis |
|
Shock, Leukocytosis, Bradycardia, Hypotension, Neutropenia, Thrombocytopenia |
ORPHA:391673 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Cerebellar atrophy, Hypoplasia of the maxilla, Hydrocephalus, Synophrys, Wide nasal bridge, Protr... |
OMIM:618302 |
Coach Syndrome 3 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Portal fibrosis, Nephronophthisis, Molar too... |
OMIM:619113 |
Spinocerebellar Ataxia Type 1 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Loss of Purkinje cells in the cerebellar vermis, Atr... |
ORPHA:98755 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Pallor |
OMIM:611590 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Fusion of midcervical facet joints, Cervical vertebral bodies with decreased anteroposterior diam... |
OMIM:606842 |
Osteogenesis Imperfecta, Type I |
|
Osteopenia, Otosclerosis, Biconcave flattened vertebrae, Hearing impairment, Recurrent fractures,... |
OMIM:166200 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Optic disc pallor, Abnormal pinna morphology, Band keratopathy, Hydrocephalus, Vertigo, Hypoplasi... |
OMIM:614195 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Decreased thyroid-stimulating hormone level, Tachycardia, Increased circulating free T4 concentra... |
OMIM:613239 |
Rere-Related Neurodevelopmental Syndrome |
|
Microphthalmia, Intrauterine growth retardation, Ventricular septal defect, Abnormal heart morpho... |
ORPHA:494344 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Skeletal muscle atrophy, Streak ovary, Abnormal peripheral myelination, Increased circulating gon... |
ORPHA:168563 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal lower motor neuron morphology, Abnormality of the spleen, Abnormal mesentery morphology,... |
ORPHA:93941 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Severe short stature, Micromelia, Limitation of joint mobility, Coxa vara, Platyspondyly, Flared,... |
ORPHA:168555 |
Morquio Syndrome C |
|
Platyspondyly, Severe short stature, Corneal opacity |
OMIM:252300 |
Osteogenesis Imperfecta, Type Xvi |
|
Angulated humerus, Multiple rib fractures, Bowing of the long bones, Osteopenia, Rhizomelia, Shor... |
OMIM:616229 |
Second Metatarsal-Metacarpal Syndrome |
|
Platyspondyly, Synostosis of carpals/tarsals, Abnormal metacarpal morphology |
OMIM:269630 |
Spondylocamptodactyly Syndrome |
|
Platyspondyly, Camptodactyly of finger, Scoliosis |
ORPHA:3180 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Omphalocele, Abnormally ossified vertebrae, Bowing of the long bones, Radial bowing, Intestinal m... |
ORPHA:3035 |
Ring Chromosome 10 Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:1438 |
Gangliocytoma |
|
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Accelerated skele... |
ORPHA:251937 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Thrombocytopenia, Portal hypertension, Hepatosplenomegaly |
ORPHA:210136 |
Okur-Chung Neurodevelopmental Syndrome |
|
Single transverse palmar crease, Polyhydramnios, Micrognathia, Synophrys, High palate, Clinodacty... |
OMIM:617062 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Autoimmune hemolytic anemia, Thrombocytopenia |
OMIM:616576 |
Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Thrombocytopenia, Pulmonary hemo... |
OMIM:619644 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Myositis, Abnormality of the temporomandibular joint, Flexion contracture, Gastroesophageal reflu... |
ORPHA:258 |
Norrie Disease |
|
Sclerocornea, Venous insufficiency, Abnormal pupil morphology, Protruding ear, Hypoplasia of the ... |
ORPHA:649 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Pancytopenia, Testicular atrophy, Thrombocytopenia |
OMIM:613987 |
Lymphedema-Distichiasis Syndrome |
|
Predominantly lower limb lymphedema, Ventricular septal defect, Nonimmune hydrops fetalis, Lymphe... |
OMIM:153400 |
Acrorenal-Mandibular Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, Hemivertebrae, High palate, Narrow chest, Hypoplas... |
OMIM:200980 |
Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Myocarditis, Leukocytosis, Thrombocytopenia, Cardiomyopathy, Leuk... |
ORPHA:292 |
Primrose Syndrome |
|
Skeletal muscle atrophy, Bilateral cryptorchidism, Hypoplasia of the maxilla, Synophrys, Flexion ... |
OMIM:259050 |
Craniopharyngioma |
|
Neoplasm of the anterior pituitary, Myocardial infarction, Papilledema, Abnormal nasal bone morph... |
ORPHA:54595 |
Cockayne Syndrome Type 1 |
|
Anophthalmia |
ORPHA:90321 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Pneumonia, Recurrent pn... |
OMIM:300400 |
Craniolenticulosutural Dysplasia |
|
Brittle hair, Hypoplasia of the maxilla, Coarse hair, High palate, Narrow chest, Capillary hemang... |
ORPHA:50814 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Skeletal muscle atrophy, Prominent nose, Cardiomegaly, Microcytic anemia, Flexion contracture, El... |
OMIM:256040 |
Lig4 Syndrome |
|
Pancytopenia, Cryptorchidism, Telangiectasia, Acute lymphoblastic leukemia, Type II diabetes mell... |
OMIM:606593 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Tented upper lip vermilion, Short neck, Micrognathia, Widely-spaced maxillary central incisors, H... |
OMIM:309580 |
Thrombocytopenia 6 |
|
Spontaneous, recurrent epistaxis, Thrombocytopenia |
OMIM:616937 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... |
ORPHA:99125 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Osteopenia, Abnormal eosinophil morphology, Spider hemangioma, Hepatic fib... |
ORPHA:171 |
Familial Congenital Mirror Movements |
|
Fused cervical vertebrae, Abnormal corticospinal tract morphology, Agenesis of corpus callosum, H... |
ORPHA:238722 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Depressed nasal bridge, Anteverted nares, Pneumonia, Protruding tongue, Malabsorption,... |
OMIM:242860 |
Glutaric Aciduria Iii |
|
Hypertension, Glutaric aciduria, Hyperthyroidism, Goiter |
OMIM:231690 |
Joubert Syndrome 4 |
|
Renal insufficiency, Cerebellar vermis hypoplasia, Abnormal renal medulla morphology, Stage 5 chr... |
OMIM:609583 |
Thrombocytopenia 1 |
|
Epistaxis, Decreased mean platelet volume, Intermittent thrombocytopenia, Joint hemorrhage, Conge... |
OMIM:313900 |
Drug-Induced Lupus Erythematosus |
|
Thrombocytopenia, Pericarditis, Prolonged QTc interval, Anemia |
ORPHA:231111 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Microphthalmia, Lymphedema |
OMIM:152950 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Short femur, Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Gastrointestinal ... |
OMIM:617798 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Hypertension, Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia |
OMIM:612925 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:610756 |
Adams-Oliver Syndrome 2 |
|
Microphthalmia, Oligohydramnios |
OMIM:614219 |
Campomelic Dysplasia |
|
Short neck, Micrognathia, Femoral bowing, Tibial bowing, Narrow chest, Hypoplastic inferior ilia,... |
ORPHA:140 |
Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Inguinal hernia, Posteriorly rotated ears, Facial hypotonia, Single transverse palmar crease, Bro... |
OMIM:618106 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Xerostomia, Downturned corners of mouth, Chorioretinal hypopigmentation, Premature ad... |
ORPHA:398079 |
Pmm2-Cdg |
|
Osteopenia, Mandibular prognathia, Multiple joint contractures, Cerebellar vermis hypoplasia, Pro... |
ORPHA:79318 |
Baraitser-Winter Syndrome 2 |
|
Microphthalmia |
OMIM:614583 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Thyroid agenesis, Delayed skeletal maturation, Elevated circulating thyroid-stimulating hormone c... |
OMIM:218700 |
Neuroocular Syndrome |
|
Hyperextensibility of the finger joints, Brittle hair, Genu recurvatum, Synophrys, Lens coloboma,... |
OMIM:619539 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Ulcerative colitis, Abnorm... |
ORPHA:562639 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Short stature, Hamartoma of tongue, Postaxial polydactyly, Pectus excavatum, Acce... |
OMIM:258860 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Abnormal brainstem morphology, Abnormal cerebellum morphology, Agenesis of corpus callosum, Ventr... |
ORPHA:255182 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pallor |
OMIM:600462 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Pallor |
ORPHA:90037 |
Bresek Syndrome |
|
Microphthalmia, Optic nerve hypoplasia, Intrauterine growth retardation |
ORPHA:85284 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Thrombocytopenia |
OMIM:611126 |
Waldenström Macroglobulinemia |
|
Periorbital edema, Pedal edema, Pallor, Pleural effusion, Purpura |
ORPHA:33226 |
Aneurysm-Osteoarthritis Syndrome |
|
Osteoarthritis, Knee osteoarthritis, Pectus carinatum, High palate, Abdominal aortic aneurysm, Bi... |
ORPHA:284984 |
Sea-Blue Histiocytosis |
|
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis |
ORPHA:158029 |
Gamma-Heavy Chain Disease |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Abnorma... |
ORPHA:100026 |
Beta-Ketothiolase Deficiency |
|
Pallor, Edema, Dehydration |
ORPHA:134 |
Heme Oxygenase 1 Deficiency |
|
Hepatomegaly, Hemolytic anemia, Proteinuria, Epistaxis, Elevated circulating aspartate aminotrans... |
OMIM:614034 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Single umbilical artery, Intestinal a... |
ORPHA:3405 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Osteopenia, Joint dislocation, Congenital hip dislocation, Dental crowding, Microcornea, Prematur... |
OMIM:225400 |
Cerebrooculonasal Syndrome |
|
Encephalocele, Anophthalmia, Optic nerve hypoplasia |
OMIM:605627 |
Refsum Disease |
|
Microphthalmia, Dry skin, Cardiomyopathy |
ORPHA:773 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Anophthalmia, Dilated cardiomyopathy, Erythema, Mitral valve prolapse, Abnormal cardiac septum mo... |
ORPHA:2556 |
Microphthalmia, Syndromic 6 |
|
Single transverse palmar crease, Uplifted earlobe, Adrenal hypoplasia, Sclerocornea, Micrognathia... |
OMIM:607932 |
Tetraamelia Syndrome 2 |
|
Microretrognathia, Absent nipple, Ventricular septal defect, Bilateral cleft lip, Hypoplastic pul... |
OMIM:618021 |
Tufted Angioma |
|
Anemia, Thrombocytopenia |
ORPHA:1063 |
Spondyloepiphyseal Dysplasia, Maroteaux Type |
|
Platyspondyly, Genu valgum |
OMIM:184095 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Adrenal hyperplasia, Cryptorchidism, Increased circulating dehydroepiandrosterone-sulfate concent... |
OMIM:201810 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Pallor |
OMIM:246450 |
Reticular Dysgenesis |
|
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus |
OMIM:267500 |
Cold Agglutinin Disease |
|
Pallor |
ORPHA:56425 |
Hermansky-Pudlak Syndrome 5 |
|
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Epistaxis, Thrombocyto... |
OMIM:614074 |
Holoprosencephaly, Semilobar, With Craniosynostosis |
|
Coxa valga, Hypoplastic vertebral bodies, Semilobar holoprosencephaly, Lambdoidal craniosynostosi... |
OMIM:601370 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Lipomas of eyelids, Wide nose, Cataract, Corneal opacity, Abnormality of cartilage of external ea... |
ORPHA:2399 |
Duodenal Atresia |
|
Polyhydramnios, Abnormality of the pancreas, Annular pancreas, Abnormality of the pulmonary arter... |
ORPHA:1203 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
Thyroid Ectopia |
|
Short stature, Abnormality of the thyroid gland, Jaundice, Growth delay, Macroglossia, Ectopic th... |
ORPHA:95712 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Ventricular septal defect, Bilateral microphthalmos, Abnormal heart morphology, Umbilical hernia,... |
ORPHA:369891 |
Hereditary Acrokeratotic Poikiloderma |
|
Abnormality of the urethra, Xerostomia, Palmoplantar hyperkeratosis, Gingivitis, Squamous cell ca... |
ORPHA:2907 |
Cushing Disease |
|
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... |
ORPHA:96253 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p... |
ORPHA:101096 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Hypoplastic scapulae, Premature birth, Short femur, Dumbbell-shaped long bone, Micromelia, Rhizom... |
ORPHA:440354 |
Autoimmune Polyendocrinopathy Type 3 |
|
Osteopenia, Atrophic gastritis, Autoimmune hypoparathyroidism, Xerostomia, Leukopenia, Tubulointe... |
ORPHA:227982 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia |
OMIM:604229 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Dental crowding, Synophrys, Cutaneous finger syndactyly, High palate, Lumbar hyperlordosis, Broad... |
OMIM:616078 |
Meester-Loeys Syndrome |
|
Joint dislocation, Abnormal sternum morphology, High palate, Joint contracture, Bifid uvula, Arac... |
OMIM:300989 |
Autoimmune Polyendocrinopathy Type 4 |
|
Osteopenia, Atrophic gastritis, Xerostomia, Leukopenia, Tubulointerstitial nephritis, Hashimoto t... |
ORPHA:227990 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Cerebellar hemorrhage, Cardiomyopathy, Leukopenia, Neutropenia, Thrombocytopenia |
OMIM:251000 |
Muir-Torre Syndrome |
|
Renal neoplasm, Endometrial carcinoma, Laryngeal carcinoma, Neoplasm of the stomach, Salivary gla... |
ORPHA:587 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Thyroid C cell hyperplasia, Delayed eruption of primary teeth, Sclerocornea, Dila... |
OMIM:300952 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia |
OMIM:601794 |
Mckusick-Kaufman Syndrome |
|
Urethral stricture, Glandular hypospadias, High palate, Atrial septal defect, Finger syndactyly, ... |
ORPHA:2473 |
Pituicytoma |
|
Hypopituitarism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation ... |
ORPHA:251623 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Transient ischemic attack, Myocardial infarction, Schistocytosis, Microangiopath... |
OMIM:274150 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Proximal placement of thumb, Absent thumb, Cleft upper lip, Micrognathia, Hypoplasia of the radiu... |
OMIM:602418 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Premature delivery because of cervical insufficiency or membrane fragility, Nodular pattern on pu... |
OMIM:130050 |
Hypoglossia-Hypodactyly Syndrome |
|
Finger syndactyly, Brachydactyly, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Micrognathia... |
ORPHA:989 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Epistaxis, Diffuse alveolar hemorrhage, Thrombocytopenia, Leukocytosis, Leukopenia,... |
ORPHA:520 |
Familial Exudative Vitreoretinopathy |
|
Microphthalmia, Macular edema, Lymphedema |
ORPHA:891 |
Beta-Thalassemia Intermedia |
|
Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,... |
ORPHA:231222 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:363741 |
Pseudo-Torch Syndrome 3 |
|
Cerebral hemorrhage, Leukocytosis, Hypertension, Congenital thrombocytopenia, Anemia |
OMIM:618886 |
Myoclonic-Astatic Epilepsy |
|
Microphthalmia, Premature skin wrinkling |
ORPHA:1942 |
Enlarged Parietal Foramina |
|
Occipital encephalocele, Multiple exostoses, Craniosynostosis, Cleft lip, Myelomeningocele, Cleft... |
ORPHA:60015 |
Smith-Mccort Dysplasia 1 |
|
Short neck, Short phalanx of finger, Genu varum, Barrel-shaped chest, Short metacarpal, Iliac cre... |
OMIM:607326 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Dilated cardiomyopathy, Pallor, Edema, Dehydration |
ORPHA:20 |
Omenn Syndrome |
|
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,... |
OMIM:603554 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Thin upper lip vermilion, Short stature, Sparse eyelashes, Hypospadias, Bifid nasal tip, Pectus e... |
OMIM:618874 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Recurrent fractures, Venous insufficiency, Congestive heart failure, Visceral angiomatosis, Upper... |
ORPHA:137608 |
Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Scapular winging, Tongue atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Hyperlordos... |
OMIM:620285 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Pallor |
ORPHA:90036 |
Brachyolmia Type 2 |
|
Platyspondyly, Short stature |
OMIM:613678 |
Angelman Syndrome |
|
Abnormality of the gastrointestinal tract, Optic disc pallor, Keratoconus, Mandibular prognathia,... |
ORPHA:72 |
Bruck Syndrome 1 |
|
Joint laxity, Hip contracture, Short stature, Protrusio acetabuli, Ankle flexion contracture, Kyp... |
OMIM:259450 |
Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia |
ORPHA:2788 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
B lymphocytopenia, Increased CD4:CD8 ratio, Decreased proportion of memory B cells, Thrombocytopenia |
OMIM:618048 |
Joubert Syndrome 8 |
|
Hepatomegaly, Occipital encephalocele, Optic disc pallor, Pigmentary retinopathy, Prolonged neona... |
OMIM:612291 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Proportionate short stature, Micromelia, Osteoarthritis, Short thorax, Platyspondyly, Abnormal ep... |
ORPHA:93283 |
Ciliary Dyskinesia, Primary, 1 |
|
Communicating hydrocephalus, Nasal polyposis, Pneumonia, Asplenia, Atelectasis, Situs inversus to... |
OMIM:244400 |
Pseudohypoparathyroidism Type 1C |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:79444 |
Familial Osteodysplasia, Anderson Type |
|
Mandibular prognathia, Prominent nose, Long nose, Depressed nasal ridge, Abnormal form of the ver... |
ORPHA:2769 |
Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos |
ORPHA:77299 |
Sepsis In Premature Infants |
|
Edema, Pallor, Petechiae, Purpura |
ORPHA:90051 |
Axenfeld-Rieger Syndrome |
|
Anal stenosis, Posterior embryotoxon, Depressed nasal bridge, Hypospadias, Hypoplasia of the maxi... |
ORPHA:782 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Myositis, Chronic active hepatitis, Bronchitis, Xerostomia, Leukopenia, Tubulo... |
ORPHA:289390 |
Immunodeficiency 42 |
|
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus, Recurrent aphthous stomatitis |
OMIM:616622 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, Hy... |
ORPHA:99901 |
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts |
|
Cataract, Split hand, Hand monodactyly, Split foot, Retinopathy |
OMIM:183800 |
Heart And Brain Malformation Syndrome |
|
Microphthalmia, Ventricular septal defect, Polyhydramnios |
OMIM:616920 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Pallor |
OMIM:615234 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Thrombocytopenia, Decreased proport... |
ORPHA:79124 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Osteopenia, Skeletal muscle atrophy, Polyhydramnios, Aortic rupture, Microcornea, Type 1 muscle f... |
OMIM:614557 |
Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Short neck, Synophrys, Low anterior hairline, Irregular vertebral endplates, Posterior scalloping... |
OMIM:610442 |
Progressive Pseudorheumatoid Dysplasia |
|
Arthropathy, Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphos... |
OMIM:208230 |
Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Thrombocytopenia |
OMIM:612783 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2250 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Ovarian neoplasm, Lymphadenopathy, Macrogl... |
ORPHA:2221 |
Meier-Gorlin Syndrome 4 |
|
Short stature, Genu recurvatum, Micrognathia, Lateral clavicle hook, Cryptorchidism, Delayed skel... |
OMIM:613804 |
Cerebrotendinous Xanthomatosis |
|
Cerebellar atrophy, Optic disc pallor, Cataract, Angina pectoris, Myocardial infarction, Tendon x... |
OMIM:213700 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Short stature, Abnormality of the dentition, Broad nasal tip, Hypoplasia of the maxilla, Osteolys... |
ORPHA:2776 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion, Chorioretin... |
OMIM:613702 |
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Sensorineural hearing impairment, Cleft lip, Anosm... |
OMIM:612702 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple... |
OMIM:614700 |
Smith-Mccort Dysplasia 2 |
|
Mandibular prognathia, Short neck, Short metatarsal, Pectus carinatum, Short phalanx of finger, B... |
OMIM:615222 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Cataract, Rhabdomyolysis, Stroke-like episod... |
ORPHA:79095 |
Meier-Gorlin Syndrome 5 |
|
Micrognathia, Hypoplasia of the maxilla, Gastroesophageal reflux, Small earlobe, Micropenis, Prom... |
OMIM:613805 |
Frontonasal Dysplasia 3 |
|
Microphthalmia |
OMIM:613456 |
Cardiac-Urogenital Syndrome |
|
Congenital diaphragmatic hernia, Patent urachus, Atrial septal defect, Scimitar anomaly, Micropen... |
OMIM:618280 |
Intermediate Osteopetrosis |
|
Thrombocytopenia, Anemia, Hepatosplenomegaly |
ORPHA:210110 |
Split-Hand/Foot Malformation 6 |
|
Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly |
OMIM:225300 |
Geroderma Osteodysplastica |
|
Mandibular prognathia, Severe short stature, Recurrent fractures, Vertebral compression fracture,... |
ORPHA:2078 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Thrombocytopenia, Absent circulating B cells |
OMIM:619693 |
Keutel Syndrome |
|
Sinusitis, Cartilaginous ossification of nose, Deep philtrum, Pulmonary artery hypoplasia, Emphys... |
OMIM:245150 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... |
OMIM:615067 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Lipomas of eyelids, Depressed nasal bridge, Hypoplasia of the maxilla, Sparse eyebrow, Widow's pe... |
OMIM:167730 |
Fanconi Anemia, Complementation Group E |
|
Microphthalmia, Anemic pallor, Abnormal heart morphology |
OMIM:600901 |
Anemia, Sideroblastic, 1 |
|
Anemic pallor |
OMIM:300751 |
Pfeiffer Syndrome |
|
Mandibular prognathia, Syndactyly, Finger syndactyly, Shortening of all middle phalanges of the f... |
OMIM:101600 |
Ulbright-Hodes Syndrome |
|
Maternal diabetes, Short neck, Micrognathia, Ovoid thoracolumbar vertebrae, High palate, Phocomel... |
ORPHA:3404 |
Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Portal hypertension, Hypersplenism, Thrombocytopenia, Splenomegaly, ... |
ORPHA:64743 |
Pseudo-Torch Syndrome 2 |
|
Thrombocytopenia, Bradycardia, Cerebral hemorrhage |
OMIM:617397 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Cataract, Depressed nasal bridge, Anteverted nares, Premature birth, Protruding tongue, Low anter... |
OMIM:618797 |
Jackson-Weiss Syndrome |
|
Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Hypoplasia of the maxilla, Short met... |
ORPHA:1540 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Osteopenia, Periodontitis, Clinodactyly of the 5th finger, Premature loss of teeth, Short phalanx... |
OMIM:619269 |
Holoprosencephaly 1 |
|
Diabetes insipidus, Short stature, Adrenal hypoplasia, Proboscis, Alobar holoprosencephaly, Micro... |
OMIM:236100 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Short statu... |
OMIM:211600 |
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency |
|
Furrowed tongue |
OMIM:165150 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Low-set, posteriorly rotated ears, Abnormal rib morphology, Slender long bone, Abnormal pelvic gi... |
ORPHA:1506 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Pallor |
ORPHA:263455 |
Boutonneuse Fever |
|
Leukopenia, Vasculitis, Thrombocytopenia |
ORPHA:83313 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Cataract, Arachnodactyly, Iris hypopigmentation, Short stature, Abnormality of neutrophils, Hydro... |
ORPHA:2720 |
Orofaciodigital Syndrome Iii |
|
Pectus excavatum, Kyphosis, Bulbous nose, Postaxial hand polydactyly, Supernumerary tooth, Tongue... |
OMIM:258850 |
Chromosome 17Q12 Duplication Syndrome |
|
Atrial septal defect, Microphthalmia |
OMIM:614526 |
Fetal Alcohol Syndrome |
|
Atrial septal defect, Microphthalmia, Intrauterine growth retardation |
ORPHA:1915 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Optic disc pallor, Skeletal muscle atrophy, Hemolytic anemia, Macrocytic anemi... |
OMIM:615512 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Osteopenia, Micrognathia, Flexion contracture, Palmoplantar hyperkeratosis, High palate, Macroves... |
OMIM:619127 |
Joubert Syndrome 21 |
|
Encephalocele, Occipital encephalocele, Anophthalmia |
OMIM:615636 |
Microcephaly 13, Primary, Autosomal Recessive |
|
Subglottic stenosis, Short stature, Prominent nose, Metaphyseal sclerosis, Micrognathia, Partial ... |
OMIM:616051 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Abnormality of the testis size, Renal cyst, Peritoneal abscess, B... |
ORPHA:400 |
47,Xyy Syndrome |
|
Hypospadias, Cryptorchidism, Hydrocephalus, Increased circulating gonadotropin level, Abnormal br... |
ORPHA:8 |
Solar Urticaria |
|
Edema, Periorbital edema, Vertigo, Abnormal tongue morphology, Angioedema, Abnormal lip morpholog... |
ORPHA:97230 |
Multiple Endocrine Neoplasia, Type Iia |
|
Hyperparathyroidism, Aganglionic megacolon, Thyroid C cell hyperplasia, Elevated urinary norepine... |
OMIM:171400 |
Stevenson-Carey Syndrome |
|
Atrial septal defect, Microphthalmia |
OMIM:611961 |
Seckel Syndrome 2 |
|
Microphthalmia |
OMIM:606744 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Barrel-shaped chest, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Kyphosi... |
OMIM:313400 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Laryngeal stenosis, Abnormal oral mucosa morphology, Edema, Renal cyst, Gastr... |
ORPHA:79404 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Joint laxity, Hypoplasia of the ulna, Short stature, Short neck, Tapered finger, Multiple joint d... |
OMIM:618395 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Hallux valgus, Mandibular prognathia, Cone-shaped epiphyses of the 4th toe, Hyperopic astigmatism... |
ORPHA:397973 |
X-Linked Intellectual Disability, Porteous Type |
|
Mandibular prognathia, Short stature, Frontal balding, Hypoplasia of the maxilla, Bulbous nose, C... |
ORPHA:93945 |
Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Thrombocytopenia |
OMIM:259710 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Patent ductus arteriosus, Postax... |
ORPHA:2519 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Hepatomegaly, Osteomyelitis, Neutrophilia, Splenomegaly, Osteolysis, Fused cervical v... |
OMIM:612852 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:614833 |
Hyperlysinemia |
|
Short stature, Craniosynostosis, Argininuria, Recurrent pneumonia, Depressed nasal ridge, Cystinu... |
ORPHA:2203 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Noncompaction cardiomyopathy, Tricuspid regurgitation, Congestive heart failure, Thrombocytopenia... |
ORPHA:508542 |
Barber-Say Syndrome |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Low anterior hairline, High palat... |
OMIM:209885 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Short humerus, Short femur, Hypoplasia of the femoral head, Rhizomelia, Severe short stature, Wid... |
OMIM:619598 |
Polymicrogyria Due To Tubb2B Mutation |
|
Cerebellar atrophy, Hypoplasia of the pons, Abnormal brainstem morphology, Lateral ventricle dila... |
ORPHA:300573 |
Hemophagocytic Syndrome Associated With An Infection |
|
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Abnormal T cell subset distribution, Anemia, He... |
ORPHA:158048 |
Pelvis-Shoulder Dysplasia |
|
Microphthalmia, Spina bifida occulta |
OMIM:169550 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... |
OMIM:606217 |
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome |
|
Aniridia, Hearing abnormality, Abnormality of the pulmonary artery |
ORPHA:1065 |
Cardioacrofacial Dysplasia 1 |
|
Postaxial polydactyly, Accessory oral frenulum, Conical tooth, Complete atrioventricular canal de... |
OMIM:619142 |
Joubert Syndrome 31 |
|
Molar tooth sign on MRI, Ventriculomegaly |
OMIM:617761 |
Deafness-Craniofacial Syndrome |
|
Short lingual frenulum, Underdeveloped nasal alae, Abnormality of the dentition, Patent ductus ar... |
ORPHA:3241 |
Baraitser-Winter Syndrome 1 |
|
Microphthalmia, Aortic valve stenosis, Bicuspid aortic valve |
OMIM:243310 |
Acute Radiation Syndrome |
|
Telangiectasia, Granulocytopenia, Hypotension, Lymphopenia, Thrombocytopenia |
ORPHA:454831 |
Full Nf2-Related Schwannomatosis |
|
Astrocytoma, Brain stem compression, Wrist drop, Abnormal optic nerve morphology, Foot dorsiflexo... |
ORPHA:637 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
Overlap Myositis |
|
Diabetes mellitus, Raynaud phenomenon, Hypertension, Leukopenia, Pulmonary arterial hypertension,... |
ORPHA:206572 |
Fanconi Anemia, Complementation Group A |
|
Microphthalmia, Anemic pallor, Abnormal heart morphology |
OMIM:227650 |
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
Thrombocytopenia |
OMIM:616577 |
Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Delayed eruption of teeth, Prolonged QT interval, Cataract, Depressed nasal bridge, D... |
ORPHA:94089 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia |
OMIM:605432 |
Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Microphthalmia, Erythema, Pallor |
OMIM:308300 |
Joubert Syndrome 25 |
|
Molar tooth sign on MRI, Cerebellar hypoplasia |
OMIM:616781 |
Lipodystrophy, Familial Partial, Type 7 |
|
Sparse hair, Lower limb muscle weakness, Narrow nasal ridge, Pulmonary arteriovenous malformation... |
OMIM:606721 |
Capillary Malformation-Arteriovenous Malformation |
|
Neurogenic bladder, Peripheral arteriovenous fistula, Epistaxis, Nonimmune hydrops fetalis, Abnor... |
ORPHA:137667 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Microphthalmia, Ventricular septal defect, Abnormal heart morphology |
ORPHA:404440 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Microphthalmia, Abnormal cardiac septum morphology, Intrauterine growth retardation |
ORPHA:1352 |
Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Bronchitis, Abnormality of the spleen, Abnormality of the parat... |
ORPHA:2552 |
Mirizzi Syndrome |
|
Elevated hepatic transaminase, Dark urine, Tachycardia, Pancreatitis, Jaundice, Cholesterol galls... |
ORPHA:521219 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Renal insufficiency, Sensorineural hearing impairment, Hypertension, Cardiomyopathy, Abnormal aor... |
ORPHA:3222 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hypertriglyceridemia, Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia |
ORPHA:540 |
Hypophosphatasia |
|
Bowing of the long bones, Short stature, Recurrent fractures, Craniosynostosis, Abnormality of th... |
ORPHA:436 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Short stature, Unilateral renal agenesis, Cleft upper lip, Micrognathia, Ectopic kidney, Abnormal... |
OMIM:601076 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive |
|
Flattened metatarsal heads, Short stature, Osteoarthritis, Platyspondyly, Hip osteoarthritis, Fla... |
OMIM:271600 |
Geroderma Osteodysplasticum |
|
Osteopenia, Hyperextensibility of the finger joints, Mandibular prognathia, Hypoplasia of the max... |
OMIM:231070 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp... |
ORPHA:331206 |
Livedoid Vasculopathy |
|
Enlargement of the ankles, Diabetes mellitus, Telangiectasia of the skin, Abnormal capillary morp... |
ORPHA:542643 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Osteoarthritis, Flared me... |
OMIM:602111 |
Phosphoserine Phosphatase Deficiency |
|
Postnatal growth retardation, Intrauterine growth retardation |
OMIM:614023 |
Hereditary Spherocytosis |
|
Restrictive cardiomyopathy, Pallor, Skin ulcer |
ORPHA:822 |
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Sparse scalp hair, Non-midline cleft lip, Meningocele, Depressed nasal ridge, Absent nasal septal... |
ORPHA:2003 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Cardiomyopathy, Thrombocytopenia |
OMIM:617710 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Bilateral microphthalmos, Optic nerve hypoplasia, Ethmoidal encephalocele |
OMIM:607597 |
Diffuse Alveolar Hemorrhage |
|
Thrombocytopenia, Leukocytosis, Pulmonary venous hypertension, Anemia |
ORPHA:90060 |
Tay-Sachs Disease |
|
Pallor |
OMIM:272800 |
Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
Panhypophysitis |
|
Orthostatic hypotension, Decreased circulating cortisol level, Reduced circulating prolactin conc... |
ORPHA:95513 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... |
ORPHA:2064 |
Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Anemia, Leukopenia, Hemopha... |
OMIM:603553 |
Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Micromelia, Bowing of the legs, Multiple prenatal fractures, Coxa vara, Narrow chest,... |
OMIM:610682 |
Grfoma |
|
Neoplasm of the thymus, Zollinger-Ellison syndrome, Pheochromocytoma, Hepatomegaly, Intermittent ... |
ORPHA:97261 |
Hereditary Hemorrhagic Telangiectasia |
|
Conjunctival telangiectasia, Abnormal cerebral vascular morphology, Pulmonary embolism, Retinal t... |
ORPHA:774 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Dilated cardiomyopathy, Leukopenia, Neutropenia, Thrombocytopenia |
OMIM:613989 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Myocardial infarction, Pituitary corticotropic cell adenoma, Neoplasm of the... |
ORPHA:99889 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Beemer-Ertbruggen Syndrome |
|
Cryptorchidism, Thrombocytopenia |
ORPHA:1237 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... |
OMIM:610338 |
Aicardi-Goutieres Syndrome 1 |
|
Diabetes insipidus, Splenomegaly, Vasculitis, Cardiomyopathy, Hypothyroidism, Thrombocytopenia |
OMIM:225750 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Neonatal alloimmune thrombocytopenia, Intra... |
ORPHA:853 |
Acrofacial Dysostosis, Cincinnati Type |
|
Short stature, Choanal atresia, Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus... |
OMIM:616462 |
Felty Syndrome |
|
Pericarditis, Splenomegaly, Anemia, Neutropenia, Abnormal lymphocyte morphology, Thrombocytopenia |
ORPHA:47612 |
Thoracolaryngopelvic Dysplasia |
|
Laryngeal stenosis, Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, ... |
OMIM:187760 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypertriglyceridemia, Splenomegaly, Anemia, Leukopenia, Hemophagocytosis, Thrombocytopenia |
OMIM:267700 |
Congenital Tracheomalacia |
|
Cardiomegaly, Gastroesophageal reflux, Atrial septal defect, Emphysema, Single ventricle, Prematu... |
ORPHA:95430 |
Fanconi Anemia, Complementation Group C |
|
Microphthalmia, Ventricular septal defect, Anemic pallor, Intrauterine growth retardation |
OMIM:227645 |
Nance-Horan Syndrome |
|
Microphthalmia |
ORPHA:627 |
Holoprosencephaly 4 |
|
Median cleft lip and palate, Depressed nasal bridge, Median cleft lip, Absent nasal septal cartil... |
OMIM:142946 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... |
ORPHA:2334 |
Heterotaxy, Visceral, 7, Autosomal |
|
Atrial septal defect, Intestinal malrotation, Dextrocardia, Mitral atresia, Situs inversus totali... |
OMIM:616749 |
Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Aortopulmonary collater... |
OMIM:617205 |
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
|
Posteriorly rotated ears, Micrognathia, Pilomatrixoma, Multinodular goiter, Embryonal rhabdomyosa... |
OMIM:620189 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Abnormal dense granu... |
OMIM:214500 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Hypoplasia of penis, Short stature, Short neck, Abnormality of the thyroid gland, Hemivertebrae, ... |
ORPHA:2234 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Atrial septal defect, Microphthalmia, Intrauterine growth retardation |
ORPHA:2728 |
Letterer-Siwe Disease |
|
Thrombocytopenia, Neutropenia, Anemia, Hepatosplenomegaly |
OMIM:246400 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hypertriglyceridemia, Splenomegaly, Anemia, Lymphopenia, Thrombocytopenia |
OMIM:617591 |
Congenital Fibrinogen Deficiency |
|
Left ventricular hypertrophy, Microphthalmia, Right ventricular hypertrophy |
ORPHA:335 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Abnormal left ventricular function, Leukopenia, Internal hemorrhage, Neutrop... |
ORPHA:99827 |
Sheehan Syndrome |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d... |
ORPHA:91355 |
Bruck Syndrome 2 |
|
Osteopenia, Inguinal hernia, Short stature, Flexion contracture, Elbow flexion contracture, Femor... |
OMIM:609220 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... |
ORPHA:811 |
Griscelli Syndrome |
|
Splenomegaly, Leukopenia, Thrombocytopenia, Abnormality of neutrophils |
ORPHA:381 |
Adenohypophysitis |
|
Orthostatic hypotension, Decreased circulating cortisol level, Reduced circulating prolactin conc... |
ORPHA:95512 |
Gcgr-Related Hyperglucagonemia |
|
Neoplasm of the pancreas, Diabetes mellitus, Zollinger-Ellison syndrome, Increased glucagon level... |
ORPHA:438274 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Anemic pallor, Edema |
ORPHA:329971 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormality of the endocrine system, Co... |
ORPHA:391487 |
Osteogenesis Imperfecta, Type Xvii |
|
Joint laxity, Decreased muscle mass, Bowed humerus, Short stature, Kyphoscoliosis, Recurrent frac... |
OMIM:616507 |
Thauvin-Robinet-Faivre Syndrome |
|
Inguinal hernia, Transient neutropenia, Ventricular septal defect, Bowing of the legs, Sensorineu... |
OMIM:617107 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chr... |
ORPHA:100085 |
Metachromatic Leukodystrophy |
|
Urinary incontinence, Abnormal stomach morphology, Decreased nerve conduction velocity, Abnormal ... |
ORPHA:512 |
Kindler Epidermolysis Bullosa |
|
Urethral stricture, Laryngeal stenosis, Flexion contracture, Gingivitis, Squamous cell carcinoma,... |
ORPHA:2908 |
Microtia-Anotia |
|
Holoprosencephaly, Anotia, Microtia |
OMIM:600674 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Pallor |
ORPHA:90033 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Alopecia, Cataract, Malabsorption, Xerostomia, Clubbing, Hematochezia, Hamartomatous polyposis, C... |
OMIM:175500 |
Hyperthyroidism, Nonautoimmune |
|
Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Premature birth, Accel... |
OMIM:609152 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Microphthalmia, Optic nerve hypoplasia, Intrauterine growth retardation |
OMIM:617914 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Microphthalmia |
OMIM:614105 |
Auriculocondylar Syndrome 3 |
|
Micrognathia, Question mark ear, Glossoptosis, Bilateral conductive hearing impairment, Stenosis ... |
OMIM:615706 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
Blue Rubber Bleb Nevus |
|
Iron deficiency anemia, Intestinal bleeding, Thrombocytopenia |
OMIM:112200 |
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
|
Broad jaw, Subglottic stenosis, Bicuspid aortic valve, Exaggerated cupid's bow, Tapered finger, M... |
OMIM:614501 |
Bartsocas-Papas Syndrome 2 |
|
Microphthalmia |
OMIM:619339 |
Marden-Walker Syndrome |
|
Microphthalmia, Dextrocardia, Intrauterine growth retardation |
OMIM:248700 |
Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Frontofacionasal Dysplasia |
|
Encephalocele, Microphthalmia |
ORPHA:1791 |
Prolidase Deficiency |
|
Splenomegaly, Thrombocytopenia, Diffuse telangiectasia, Anemia |
OMIM:170100 |
Melkersson-Rosenthal Syndrome |
|
Facial palsy, Edema, Periorbital edema, Cheilitis, Furrowed tongue, Lymphadenopathy, Macroglossia... |
ORPHA:2483 |
Elliptocytosis 1 |
|
Pallor |
OMIM:611804 |
3P25.3 Microdeletion Syndrome |
|
Atrial septal defect, Microphthalmia, Ventricular septal defect, Pulmonic stenosis |
ORPHA:435638 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Intrauterine growth retardation, Bilateral microphthalmos, Abnormal heart morphology |
OMIM:610758 |
Aorto-Ventricular Tunnel |
|
Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao... |
ORPHA:3400 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Skeletal muscle atrophy, Esophageal stenosis, Anal fissure, Carious teeth, Narrow mouth, Esophage... |
ORPHA:89842 |
Igg4-Related Pachymeningitis |
|
Abnormality of the cervical spine, Low back pain, Sinusitis, Eosinophilia, Abnormal spinal dura m... |
ORPHA:449427 |
Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Thrombocytopenia, Megaloblastic anemia |
ORPHA:90045 |
Hypothyroidism, Congenital, Nongoitrous, 5 |
|
Thyroid agenesis, Patent foramen ovale, Elevated circulating thyroid-stimulating hormone concentr... |
OMIM:225250 |
Immunodeficiency 9 |
|
Myopathy, Hypoplasia of the thymus, Recurrent aphthous stomatitis, Stomatitis, Amelogenesis imper... |
OMIM:612782 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra... |
OMIM:612576 |
Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormal acetabulum morpholog... |
OMIM:618641 |
Immunodeficiency 22 |
|
Pericarditis, Capillary leak, Anemia, Decreased proportion of CD4-positive helper T cells, Thromb... |
OMIM:615758 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Pancreatic steatosis, Thrombocytopenia, Cr... |
OMIM:617052 |
Benign Recurrent Intrahepatic Cholestasis |
|
Elevated hepatic transaminase, Jaundice, Acholic stools, Cholestatic liver disease, Cirrhosis, He... |
ORPHA:65682 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Osteopenia, Short neck, Micropenis, Spina bifida occulta, Sternocleidomastoid amyotrophy, Broad c... |
ORPHA:488434 |
Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
Ivic Syndrome |
|
Leukocytosis, Arrhythmia, Thrombocytopenia |
ORPHA:2307 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Depressed nasal bridge, Pancreatic fibrosis, Polyhydramnios, Postaxial polydactyly, L... |
OMIM:615503 |
Bazex-Dupre-Christol Syndrome |
|
Narrow nasal ridge, Underdeveloped nasal alae, Trichorrhexis nodosa, Furrowed tongue, Basal cell ... |
OMIM:301845 |
Osteopetrosis, Autosomal Dominant 2 |
|
Facial palsy, Recurrent fractures, Mandibular osteomyelitis, Abnormality of the vertebral endplat... |
OMIM:166600 |
Good Syndrome |
|
Abnormal leukocyte morphology, Diabetes mellitus, Thymoma, Anemia, Aplasia/Hypoplasia of the thym... |
ORPHA:169105 |
Dominant Beta-Thalassemia |
|
Dilated cardiomyopathy, Pallor, Skin ulcer |
ORPHA:231226 |
Kapur-Toriello Syndrome |
|
Atrial septal defect, Microphthalmia, Ventricular septal defect, Intrauterine growth retardation |
OMIM:244300 |
Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Pancreatic fibrosis, Thrombocytopenia, Reticulocytopenia, Ste... |
OMIM:557000 |
Anterior Segment Dysgenesis 2 |
|
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia |
OMIM:610256 |
Distal Deletion 19P |
|
Low-set, posteriorly rotated ears, Long toe, Alopecia, Arachnodactyly, Ventricular septal defect,... |
ORPHA:96129 |
Hypothyroidism, Congenital, Nongoitrous, 1 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Thyroid hypoplasi... |
OMIM:275200 |
Senior-Loken Syndrome 8 |
|
Pallor |
OMIM:616307 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Microphthalmia, Abnormally large globe |
OMIM:615249 |
Developmental And Epileptic Encephalopathy 100 |
|
Tented upper lip vermilion, Single transverse palmar crease, Micrognathia, Synophrys, High palate... |
OMIM:619777 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Microphthalmia, Skin ulcer |
ORPHA:1806 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Aniridia, Pallor |
ORPHA:29072 |
Alport Syndrome |
|
Macular degeneration, Nephritis, Tubulointerstitial fibrosis, Diffuse leiomyomatosis, Posterior s... |
ORPHA:63 |
Melanocytic Nevus Syndrome, Congenital |
|
Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Deep philtru... |
OMIM:137550 |
Cole-Carpenter Syndrome |
|
Communicating hydrocephalus, Delayed eruption of teeth, Crumpled long bones, Bowing of the long b... |
ORPHA:2050 |
Foix-Alajouanine Syndrome |
|
Distal lower limb amyotrophy, Back pain, Low back pain, Hyperintensity of MRI T2 signal of the sp... |
ORPHA:79093 |
Tetramelic Monodactyly |
|
Split foot, Split hand, Foot monodactyly, Hand monodactyly |
OMIM:187510 |
Plummer-Vinson Syndrome |
|
Pallor |
ORPHA:54028 |
Encephalocraniocutaneous Lipomatosis |
|
Ventricular septal defect, Hypoplasia of the iris, Subvalvular aortic stenosis, Atrial septal def... |
OMIM:613001 |
Microcephalic Primordial Dwarfism, Dauber Type |
|
Subglottic stenosis, Short stature, Prominent nose, Delayed skeletal maturation, Abnormal carpal ... |
ORPHA:319675 |
Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Hepatomegaly, Subglottic stenosis, Short stature, Anterior rib cupping, Thromb... |
OMIM:617941 |
Thyroid Hypoplasia |
|
Short stature, Jaundice, Growth delay, Macroglossia, Hypothyroidism, Thyroid hypoplasia |
ORPHA:95720 |
Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
Temtamy Syndrome |
|
Microphthalmia |
OMIM:218340 |
Angioosteohypotrophic Syndrome |
|
Hypoplasia of the ulna, Short humerus, Prominent superficial veins, Telangiectasia of the skin, A... |
ORPHA:75508 |
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Microretrognathia, Tricuspid regurgitation, Posteriorly rotated ears, Abnormal pinna morphology, ... |
ORPHA:228396 |
Mesomelic Dysplasia, Kantaputra Type |
|
Short stature, Tarsal synostosis, Camptodactyly of finger, Abnormality of the humerus, Abnormal r... |
ORPHA:1836 |
Trichothiodystrophy 3, Photosensitive |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:616395 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Rhizomelia, Delayed skeletal maturation, Femoral bowing, Platyspondyly, Thoracic kyphosis, Wormia... |
OMIM:619638 |
Oculofaciocardiodental Syndrome |
|
Microphthalmia, Abnormal cardiac septum morphology, Mitral valve prolapse |
ORPHA:2712 |
Saethre-Chotzen Syndrome |
|
Long nose, Hypoplasia of the maxilla, Low anterior hairline, Partial duplication of the distal ph... |
OMIM:101400 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, Pierre-Robin sequence, A... |
OMIM:602196 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Microphthalmia |
OMIM:212550 |
Hereditary Mucoepithelial Dysplasia |
|
Recurrent respiratory infections, Alopecia, Cataract, Corneal dystrophy, Anorectal anomaly, Trach... |
ORPHA:1839 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Osteopenia, Mixed hearing impairment, Severe short stature, Recurrent fractures, Carious teeth, O... |
OMIM:126550 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia |
OMIM:269400 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,... |
OMIM:601438 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Myelodysplasia, Microcytic anemia, Hypersplenism, Splenome... |
ORPHA:846 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Unilateral renal agenesis, Megaloblastic anemia, Intraventricular hemorrhage, Cleft palate, Abnor... |
ORPHA:79284 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Abnormal venous morphology, Telangiectasia of the skin, Macrodactyly, Abnormal cerebral vascular ... |
ORPHA:276280 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Asplenia, Recurrent otitis media, Dextrocardia, Situs inversus totalis |
OMIM:618948 |
Mucopolysaccharidosis-Plus Syndrome |
|
Congestive heart failure, Thrombocytopenia, Splenomegaly, Leukopenia, Neutropenia, Hypertrophic c... |
OMIM:617303 |
Myopathy, Mitochondrial, And Ataxia |
|
Pallor |
OMIM:617675 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Osteopenia, Sparse facial hair, Decreased palmar creases, Decreased serum estradiol, Triphalangea... |
ORPHA:2232 |
Osteogenesis Imperfecta, Type Xv |
|
Short stature, Recurrent fractures, Hypoplasia of the pons, Thin ribs, Platyspondyly, Cerebellar ... |
OMIM:615220 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Steatorrhea, Persistence of hemoglobin F, Anemia, Neutropen... |
OMIM:260400 |
Smith-Kingsmore Syndrome |
|
Cryptorchidism, Thrombocytopenia |
OMIM:616638 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Iliac crest serration, Abnormal scapula morphology, Accelerated skeletal matura... |
ORPHA:93317 |
Cholestasis-Lymphedema Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Lymphedema, Splenomegaly, Jaundic... |
ORPHA:1414 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Bowing of the legs, Osteoarthritis, Bone pain, Trapezoidal distal femoral condyles, Femoral bowin... |
OMIM:307800 |
Radio-Renal Syndrome |
|
Multicystic kidney dysplasia, Severe short stature, Depressed nasal bridge, Micromelia, Short nec... |
ORPHA:3015 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Thrombocytopenia, Anemia, Neutropenia |
OMIM:614520 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microphthalmia |
ORPHA:231736 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Pallor |
ORPHA:348 |
Alternating Hemiplegia Of Childhood |
|
Cardiomyopathy, Pallor, Dehydration |
ORPHA:2131 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Thrombocytopenia, Leukopenia, Increased mean corpuscular volume, Budd-Chiari syn... |
OMIM:127550 |
Ebola Hemorrhagic Fever |
|
Gastrointestinal hemorrhage, Melena, Leukopenia, Lymphopenia, Thrombocytopenia |
ORPHA:319218 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Nasal polyposis, Abnormality of the ureter, Bile duct polyp, Rectal pro... |
OMIM:175200 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Pallor |
ORPHA:98870 |
Congenital Fibrosis Of Extraocular Muscles |
|
Torticollis, Cataract, Hypogonadotropic hypogonadism, Optic nerve hypoplasia, Levator palpebrae s... |
ORPHA:45358 |
Spastic Paraplegia 16, X-Linked |
|
Facial hypotonia, Lower limb muscle weakness, Urinary incontinence, Hypoplasia of the maxilla, Ur... |
OMIM:300266 |
Lennox-Gastaut Syndrome |
|
Abnormal brainstem morphology |
ORPHA:2382 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Splenomegaly, Pancytopenia, Thrombocytopenia |
OMIM:614576 |
Clapo Syndrome |
|
Macrodactyly, Lymphedema, Pectus excavatum, Hemihypertrophy of upper limb, Varicose veins, Capill... |
ORPHA:168984 |
Noonan Syndrome 4 |
|
Thrombocytopenia, Hypertrophic cardiomyopathy, Pulmonic stenosis, Cryptorchidism |
OMIM:610733 |
Neuroleptic Malignant Syndrome |
|
Tachycardia, Pulmonary embolism, Thrombocytopenia, Leukocytosis, Hypertension, Bradycardia, Hypot... |
ORPHA:94093 |
Familial Cerebral Saccular Aneurysm |
|
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Abnormal brainstem m... |
ORPHA:231160 |
Ritscher-Schinzel Syndrome 3 |
|
Microphthalmia, Atrioventricular canal defect |
OMIM:619135 |
Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Multiple prenatal fractures, Femoral bowing, Tibial bowing, Decreased skull ossificat... |
OMIM:610915 |
Fanconi Anemia, Complementation Group S |
|
Microphthalmia |
OMIM:617883 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Intestinal malrotation, Brachiocephalic artery an... |
OMIM:613834 |
Rodrigues Blindness |
|
Microphthalmia |
OMIM:268320 |
Lujo Hemorrhagic Fever |
|
Shock, Myocarditis, Leukocytosis, Subconjunctival hemorrhage, Leukopenia, Bradycardia, Hypotensio... |
ORPHA:319213 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Short stature, Short neck, Ectopic kidney, Abnormal rib morphology, Low posterior hairline, Verte... |
ORPHA:2578 |
Frontonasal Dysplasia 2 |
|
Encephalocele, Microphthalmia, Intrauterine growth retardation, Oligohydramnios |
OMIM:613451 |
Lipoid Proteinosis |
|
Recurrent respiratory infections, Nasal polyposis, Abnormal oral mucosa morphology, Abnormality o... |
ORPHA:530 |
Whim Syndrome |
|
Abnormal small intestine morphology, Lymphopenia, Sinusitis, Severe periodontitis, Pneumonia, Res... |
ORPHA:51636 |
Ppoma |
|
Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortical adenoma... |
ORPHA:97278 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Tongue atrophy, Tongue fasciculations, Dysphagia |
OMIM:613435 |
Braddock-Carey Syndrome 1 |
|
Thrombocytopenia |
OMIM:619980 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Pallor |
ORPHA:276621 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... |
OMIM:187300 |
Bruck Syndrome |
|
Bowing of the long bones, Short stature, Recurrent fractures, Joint stiffness, Kyphosis, Osteopor... |
ORPHA:2771 |
Hellp Syndrome |
|
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Cerebral hemorrhage, Micro... |
ORPHA:244242 |
Chédiak-Higashi Syndrome |
|
Abnormal leukocyte morphology, Pancytopenia, Hypertriglyceridemia, Epistaxis, Thrombocytopenia, S... |
ORPHA:167 |
Familial Bicuspid Aortic Valve |
|
Aortic regurgitation, Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, He... |
ORPHA:402075 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microphthalmia, Abnormal heart morphology |
OMIM:618571 |
Mucoepithelial Dysplasia, Hereditary |
|
Fibrocystic lung disease, Cataract, Alopecia, Pneumonia, Eosinophilia, Erythematous oral mucosa, ... |
OMIM:158310 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... |
ORPHA:53035 |
Prolactinoma |
|
Osteopenia, Abnormal hair quantity, Hypogonadotropic hypogonadism, Female hypogonadism, Elevated ... |
ORPHA:2965 |
Avian Influenza |
|
Congestive heart failure, Thrombocytopenia, Lymphopenia, Leukopenia |
ORPHA:454836 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Osteomyelitis, Proportionate short stature, Glucocortocoid-insensitive primary hyperaldosteronism... |
ORPHA:171876 |
Kaposiform Lymphangiomatosis |
|
Epidural hemorrhage, Epistaxis, Pancreatic cysts, Thrombocytopenia, Splenomegaly, Hepatosplenomeg... |
ORPHA:464329 |
Vexas Syndrome |
|
Macrocytic anemia, Arteritis, Thrombocytopenia |
OMIM:301054 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Retin... |
ORPHA:464321 |
Cimdag Syndrome |
|
Hepatomegaly, Cerebellar vermis hypoplasia, Retinal dystrophy, Microvesicular hepatic steatosis, ... |
OMIM:619273 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Barrel-shaped chest, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the ... |
OMIM:184100 |
Bacterial Toxic-Shock Syndrome |
|
Shock, Tachycardia, Myocarditis, Increased circulating myelocyte count, Capillary leak, Hypotensi... |
ORPHA:36234 |
Pediatric Systemic Lupus Erythematosus |
|
Raynaud phenomenon, Leukopenia, Microangiopathic hemolytic anemia, Lymphopenia, Thrombocytopenia |
ORPHA:93552 |
Alg8-Cdg |
|
Thrombocytopenia, Anemia |
ORPHA:79325 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Microphthalmia, Ventricular septal defect |
OMIM:234050 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Tethered cord, Sandal gap, Macrodactyly, Splenomegaly, Renal hypoplasia, Spinal dysraphism, Scoli... |
OMIM:612918 |
Osteopetrosis, Autosomal Recessive 1 |
|
Splenomegaly, Thrombocytopenia, Pancytopenia, Anemia |
OMIM:259700 |
Beta-Thalassemia Major |
|
Dilated cardiomyopathy, Pallor, Skin ulcer |
ORPHA:231214 |
Aortic Valve Disease 1 |
|
Bicuspid aortic valve, Ventricular septal defect, Mitral atresia, Aortic valve calcification, Dou... |
OMIM:109730 |
Geleophysic Dysplasia 3 |
|
Subglottic stenosis, Hepatomegaly, Epiphyseal dysplasia, Depressed nasal bridge, Anteverted nares... |
OMIM:617809 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperthyroidism, Accelerated skeletal maturation, Thyrotoxicosis with diffuse goiter, Activating ... |
ORPHA:424 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ... |
ORPHA:79303 |
Cyclic Neutropenia |
|
Decreased eosinophil count, Lymphopenia, Cyclic neutropenia, Thrombocytopenia |
ORPHA:2686 |
Methylmalonic Aciduria, Cblb Type |
|
Thrombocytopenia, Pancytopenia, Anemia, Neutropenia |
OMIM:251110 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Vasculitis, Decreased mean platelet volume, Hematochezia, Subconjunctival hemorrhage, Lymphocytos... |
OMIM:617718 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Adrenal gland agenesis |
OMIM:611812 |
Idiopathic Hypereosinophilic Syndrome |
|
Angioedema, Dilated cardiomyopathy, Myocardial eosinophilic infiltration, Joint swelling, Pallor,... |
ORPHA:3260 |
Zika Virus Disease |
|
Thrombocytopenia |
ORPHA:448237 |
Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... |
ORPHA:1986 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Pancytopenia, Aplastic anemia, Cryptorchidism, Leukopenia, Thrombocytopenia |
OMIM:613990 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Osteopenia, Cherry red spot of the macula, Hepatomegaly, Short stature, Autoimmune thrombocytopen... |
ORPHA:77293 |
Osteogenesis Imperfecta, Type Xxi |
|
Barrel-shaped chest, Recurrent fractures, Bowing of the legs, Coxa valga, Pectus excavatum, Osteo... |
OMIM:619131 |
Lowry-Wood Syndrome |
|
Epiphyseal dysplasia, Brachydactyly, Abnormality of retinal pigmentation, Short stature, Abnormal... |
ORPHA:1824 |
Hermansky-Pudlak Syndrome 2 |
|
Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, Impaired ADP-induced plate... |
OMIM:608233 |
Singleton-Merten Syndrome 1 |
|
Osteopenia, Hypoplastic distal radial epiphyses, Cardiomegaly, Hypoplasia of the maxilla, Eruptio... |
OMIM:182250 |
X-Linked Acrogigantism |
|
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Abnormal optic chiasm morp... |
ORPHA:300373 |
Tangier Disease |
|
Hypertriglyceridemia, Hepatosplenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia |
ORPHA:31150 |
16Q24.3 Microdeletion Syndrome |
|
Cryptorchidism, Dilated cardiomyopathy, Mitral regurgitation, Increased mean corpuscular volume, ... |
ORPHA:261250 |
Otodental Syndrome |
|
Microphthalmia, Lens coloboma |
ORPHA:2791 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Encephalocele, Anencephaly, Pulmonic stenosis, Left ventricular hypertrophy, Microphthalmia |
OMIM:619148 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Finger syndactyly, Thin upper lip vermilion, Toe syndactyly, Choanal atresia, Lip pit, Joint stif... |
ORPHA:1300 |
Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Radial deviation of the hand, Single transverse palmar crease, Micrognath... |
OMIM:227270 |
Orofaciodigital Syndrome X |
|
Coalescence of tarsal bones, Depressed nasal bridge, Preaxial hand polydactyly, Hand oligodactyly... |
OMIM:165590 |
Infection-Related Hemolytic Uremic Syndrome |
|
Edema, Myocarditis, Pleural empyema, Pallor, Generalized edema |
ORPHA:544482 |
Alport Syndrome 1, X-Linked |
|
Hypoparathyroidism, Hypertension, Thrombocytopenia |
OMIM:301050 |
Bernard-Soulier Syndrome |
|
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Hematemesis, Giant platelets, Decr... |
ORPHA:274 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Microphthalmia |
OMIM:305390 |
3-Methylglutaconic Aciduria, Type Viib |
|
Congestive heart failure, Thrombocytopenia, Leukopenia, Neutropenia |
OMIM:616271 |
Brachyolmia Type 3 |
|
Barrel-shaped chest, Short neck, Spinal cord compression, Kyphosis, Proximal femoral metaphyseal ... |
OMIM:113500 |
Pituitary Adenoma 1, Multiple Types |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... |
OMIM:102200 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Alopecia, Hyperthyroidism, Cataract, Band keratopathy, Asplenia, Primary adrenal insufficiency, H... |
OMIM:269200 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Microphthalmia, Scaling skin |
ORPHA:35173 |
Adams-Oliver Syndrome 1 |
|
Encephalocele, Alopecia, Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Supern... |
OMIM:100300 |
Milroy Disease |
|
Predominantly lower limb lymphedema, Ankle swelling, Lymphedema, Pedal edema, Hydrocele testis, V... |
ORPHA:79452 |
3Q29 Microduplication Syndrome |
|
Aniridia, Microphthalmia, Ventricular septal defect |
ORPHA:251038 |
Holocarboxylase Synthetase Deficiency |
|
Thrombocytopenia |
ORPHA:79242 |
Spinocerebellar Ataxia Type 36 |
|
Skeletal muscle atrophy, Tongue atrophy, Vertigo, Loss of Purkinje cells in the cerebellar vermis... |
ORPHA:276198 |
Neurotrophic Keratopathy |
|
Diabetes mellitus, Abnormal fifth cranial nerve morphology, Corneal scarring, Corneal stromal ede... |
ORPHA:137596 |
Von Willebrand Disease |
|
Deviation of finger, Venous insufficiency, Abnormal mitral valve morphology |
ORPHA:903 |
Hemorrhagic Fever-Renal Syndrome |
|
Shock, Tachycardia, Epistaxis, Hematemesis, Thrombocytopenia, Leukocytosis, Capillary leak, Intra... |
ORPHA:340 |
Distal Renal Tubular Acidosis |
|
Hypocitraturia, Bone pain, Renal cyst, Reduced bone mineral density, Dehydration, Nephrocalcinosi... |
ORPHA:18 |
Sillence Syndrome |
|
Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r... |
ORPHA:3168 |
Wilson Disease |
|
Splenomegaly, Thrombocytopenia, Anemia |
ORPHA:905 |
Joubert Syndrome 5 |
|
Occipital encephalocele, Agenesis of cerebellar vermis, Aplasia/Hypoplasia of the cerebellar verm... |
OMIM:610188 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Pallor |
ORPHA:300298 |
Fanconi Anemia, Complementation Group Q |
|
Short stature, Absent thumb, Esophageal atresia, Biliary atresia, Primum atrial septal defect, An... |
OMIM:615272 |
Warburg Micro Syndrome 4 |
|
Microphthalmia |
OMIM:615663 |
Zollinger-Ellison Syndrome |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Elevated circulating... |
ORPHA:913 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Sparse eyelashes, Trichiasis, Keratitis, Sparse eyebrow, Sensorineural hearing impairment, Elbow ... |
OMIM:148210 |
Joubert Syndrome 39 |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Retinal dystrophy, Postaxial polydactyly, ... |
OMIM:619562 |
Tubulinopathy-Associated Dysgyria |
|
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Abnormal brainstem morphology, Abnormal tha... |
ORPHA:467166 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Microphthalmia, Severe intrauterine growth retardation |
OMIM:241410 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Hypoplasia of the... |
ORPHA:199306 |
Glucagonoma |
|
Hepatomegaly, Acanthocytosis, Intermittent jaundice, Increased circulating cortisol level, Adreno... |
ORPHA:97280 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Decreased circulating cortisol level, Hemivertebrae, Femoral bowing, Anteriorly placed anus, Choa... |
OMIM:201750 |
Porphyria, Congenital Erythropoietic |
|
Osteopenia, Increased fecal coproporphyrin 1, Conjunctivitis, Hepatomegaly, Hemolytic anemia, Alo... |
OMIM:263700 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Hyd... |
ORPHA:91350 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Decreased fetal movement, Thymus hyperplasia, Arachnodactyly, Polyhydramnios, Micrognathia, Type ... |
OMIM:619036 |
Aspartylglucosaminuria |
|
Vacuolated lymphocytes, Neutropenia, Joint laxity, Hepatomegaly, Depressed nasal bridge, Antevert... |
OMIM:208400 |
Glycogen Storage Disease Vii |
|
Hemolytic anemia, Reticulocytosis, Exercise-induced myoglobinuria, Jaundice, Reduced erythrocyte ... |
OMIM:232800 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Gastroin... |
OMIM:600376 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Tachycardia, Tricuspid regurgitation, Congestive heart failure, Thrombocytopenia, Hepatosplenomeg... |
ORPHA:505248 |
Familial Gestational Hyperthyroidism |
|
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... |
ORPHA:99819 |
Fanconi Anemia, Complementation Group D2 |
|
Microphthalmia, Anemic pallor, Abnormal heart morphology |
OMIM:227646 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Juvenile gastrointestinal polyposis, Epistaxis, Pulmonary arteriovenous malformation, Cerebral ar... |
OMIM:175050 |
Vitreoretinochoroidopathy |
|
Microphthalmia |
OMIM:193220 |
Curry-Jones Syndrome |
|
Microphthalmia |
ORPHA:1553 |
Atelis Syndrome 2 |
|
Thrombocytopenia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemi... |
OMIM:620185 |
Mevalonic Aciduria |
|
Normocytic hypoplastic anemia, Fluctuating splenomegaly, Leukocytosis, Hepatosplenomegaly, Anemia... |
OMIM:610377 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Splenomegaly, Hemolytic anemia, Thrombocytopenia |
ORPHA:169090 |
Spinocerebellar Ataxia 36 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Tongue atrophy, Tongue fasciculations, Dysphagia, He... |
OMIM:614153 |
Pulmonary Hypertension, Primary, 1 |
|
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... |
OMIM:178600 |
Isolated Anencephaly |
|
Omphalocele, Thymus hyperplasia, Adrenal hypoplasia, Congenital diaphragmatic hernia, Maternal di... |
ORPHA:563609 |
Angelman Syndrome |
|
Mandibular prognathia, Protruding tongue, Hypoplasia of the maxilla, Blue irides, Wide mouth, Mac... |
OMIM:105830 |
Eisenmenger Syndrome |
|
Ventricular tachycardia, Pedal edema, Aortopulmonary window, Iron deficiency anemia, Abnormality ... |
ORPHA:97214 |
Stormorken-Sjaastad-Langslet Syndrome |
|
Asplenia, Short stature, Anemia |
ORPHA:3204 |
Multiple Endocrine Neoplasia, Type I |
|
Subcutaneous lipoma, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentra... |
OMIM:131100 |
Menke-Hennekam Syndrome 2 |
|
Narrow nasal bridge, Thin upper lip vermilion, Depressed nasal bridge, Duodenal ulcer, Overlappin... |
OMIM:618333 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Pallor |
OMIM:194380 |
Primary Biliary Cholangitis |
|
Orthostatic hypotension, Portal hypertension, Abnormality of the thyroid gland, Celiac disease, J... |
ORPHA:186 |
Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Ataxia-Telangiectasia |
|
Conjunctival telangiectasia, Diabetes mellitus, Female hypogonadism, Short stature, Non-Hodgkin l... |
OMIM:208900 |
Hoyeraal-Hreidarsson Syndrome |
|
Abnormal leukocyte morphology, Thrombocytopenia, Anemia |
ORPHA:3322 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Nephrogenic diabetes insipidus, Thrombocytopenia |
OMIM:208085 |
Pituitary Apoplexy |
|
Pallor |
ORPHA:95613 |
9q subtelomeric deletion syndrome |
|
Anteverted nares, Protruding tongue, Synophrys, Abnormal heart morphology, Short nose |
DECIPHER:52 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Immunodeficiency 40 |
|
T lymphocytopenia, Thrombocytopenia |
OMIM:616433 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Dilated fourth ventricle, Cerebellar dysplasia, Retinal atrophy, Retinal dystrophy, Elongated sup... |
ORPHA:370022 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Microphthalmia |
OMIM:617306 |
Warburg Micro Syndrome 3 |
|
Microphthalmia |
OMIM:614222 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Microphthalmia |
OMIM:615145 |
Micro Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:2510 |
Takenouchi-Kosaki Syndrome |
|
Increased mean platelet volume, Thrombocytopenia, Pulmonic stenosis, Cryptorchidism |
OMIM:616737 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Pallor |
OMIM:300908 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Conjunctival telangiectasia, Alopecia, Multinodular goiter, Squamous cell carcinoma, Palmoplantar... |
OMIM:618373 |
Loeys-Dietz Syndrome |
|
Joint dislocation, Micrognathia, Orofacial cleft, Pectus carinatum, High palate, Bifid uvula, Ara... |
ORPHA:60030 |
Diamond-Blackfan Anemia 21 |
|
Aortic regurgitation, Erythroid hypoplasia, Thrombocytopenia, Anemia |
OMIM:620072 |
Hypohidrotic Ectodermal Dysplasia |
|
Abnormal hair quantity, Sinusitis, Anteverted nares, Abnormal dental morphology, Slow-growing hai... |
ORPHA:238468 |
Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Tricuspid regurgitation, Splenomegaly, Leukopenia, Hyperchol... |
OMIM:300972 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Hypochromic microcytic anemia, Thrombocytopenia |
ORPHA:3240 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Buphthalmos, Microphthalmia, Hypoplasia of the retina, Pallor |
OMIM:253280 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased circulating cortisol level, Severe B lymphocytopenia, Decreased response to growth horm... |
ORPHA:293978 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Metaphyseal widening, Tibial bowing, Barrel-shaped chest, Iris atrophy, Short stature... |
OMIM:259770 |
Familial Multinodular Goiter |
|
Hyperthyroidism, Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Multinodular... |
ORPHA:276399 |
Pseudo-Torch Syndrome 1 |
|
Splenomegaly, Thrombocytopenia |
OMIM:251290 |
Laterality Defects, Autosomal Dominant |
|
Asplenia, Situs inversus totalis |
OMIM:601086 |
Trichothiodystrophy 1, Photosensitive |
|
Microphthalmia, Dry skin |
OMIM:601675 |
Pierson Syndrome |
|
Rieger anomaly, Hypoplasia of the ciliary body, Edema, Hypoplasia of the iris, Macular hypoplasia... |
OMIM:609049 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
Von Hippel-Lindau Disease |
|
Myocarditis, Cardiomyopathy, Pallor, Macular edema |
ORPHA:892 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Abnormal cerebral vascular morphology, Pulmonary embolism, Venous insufficiency, Thin skin, Retin... |
ORPHA:743 |
Fanconi Anemia, Complementation Group R |
|
Microphthalmia |
OMIM:617244 |
Methylmalonic Aciduria, Cbla Type |
|
Thrombocytopenia, Pancytopenia, Anemia, Neutropenia |
OMIM:251100 |
Coloboma, Ocular, Autosomal Dominant |
|
Microphthalmia, Optic nerve aplasia |
OMIM:120200 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Reticulocytosis, Myocardial infarction, Leukocytosis, Schistocytosis, Hypertension, Microangiopat... |
ORPHA:90038 |
Treacher Collins Syndrome 2 |
|
Microretrognathia, Choanal atresia, Micrognathia, Cleft palate, Fusion of middle ear ossicles, An... |
OMIM:613717 |
Oculopalatocerebral Syndrome |
|
Microphthalmia |
OMIM:257910 |
Cowden Syndrome 7 |
|
Intestinal polyposis, Breast carcinoma, Trichilemmoma, Papillary thyroid carcinoma, Papilloma, He... |
OMIM:616858 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Pallor |
OMIM:616959 |
Osteogenesis Imperfecta, Type Iv |
|
Otosclerosis, Short stature, Biconcave flattened vertebrae, Recurrent fractures, Kyphosis, Increa... |
OMIM:166220 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Pancytopenia, Aplastic anemia, Thrombocytopenia |
OMIM:224230 |
Osteopetrosis, Autosomal Recessive 5 |
|
Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hypochromic microcytic an... |
OMIM:259720 |
Autosomal Erythropoietic Protoporphyria |
|
Edema, Microcytic anemia, Decreased liver function, Cirrhosis, Cholelithiasis |
ORPHA:79278 |
Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
Pituitary Carcinoma |
|
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro... |
ORPHA:300385 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Microphthalmia |
OMIM:616538 |
Gjc2-Related Late-Onset Primary Lymphedema |
|
Genital edema, Predominantly lower limb lymphedema, Ankle swelling, Edema of the dorsum of hands,... |
ORPHA:568051 |
Choreoacanthocytosis |
|
Decreased number of peripheral myelinated nerve fibers, Hepatomegaly, Peripheral axonal neuropath... |
ORPHA:2388 |
Sickle Cell Anemia |
|
Pigment gallstones, Hemolytic anemia, Osteomyelitis, Reticulocytosis, Microcytic anemia, Abnormal... |
ORPHA:232 |
Postaxial Oligodactyly, Tetramelic |
|
Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat... |
OMIM:176240 |
Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... |
OMIM:619573 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Meckel diverticulum, Diabetes mellitus, Jejunal atresia, Intestinal malrotati... |
OMIM:615710 |
Pancreatic Colipase Deficiency |
|
Megaloblastic anemia, Growth delay, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine panc... |
ORPHA:309108 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Microphthalmia |
OMIM:620098 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Buphthalmos, Microphthalmia, Encephalocele |
OMIM:613150 |
Marburg Hemorrhagic Fever |
|
Shock, Reticulocytosis, Tachycardia, Pericarditis, Lymphopenia, Orchitis, Hypovolemia, Neutrophil... |
ORPHA:99826 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Splenomegaly, Hemolytic anemia, Thrombocytopenia, Neutropenia |
OMIM:308230 |
Incontinentia Pigmenti |
|
Erythema, Skin ulcer, Umbilical hernia, Microphthalmia, Spina bifida occulta |
ORPHA:464 |
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Venous insufficiency, Thin skin, Abnormal cerebral vascular morphology, Pulmonary embolism |
ORPHA:745 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Hypoplasia of the maxilla, Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Sh... |
OMIM:300106 |
Cleidocranial Dysplasia 2 |
|
Osteopenia, Down-sloping shoulders, Aplastic clavicle, Delayed eruption of primary teeth, Coxa va... |
OMIM:620099 |
Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Sudden cardiac death, Abnormality of neutrophils, Myocardial infarct... |
ORPHA:36426 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Thrombocytopenia, Anemia |
OMIM:614946 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Hepatomegaly, Short stature, Short neck, Splenomegaly, Jaundice, Elevated circ... |
OMIM:611881 |
Lowe Oculocerebrorenal Syndrome |
|
Wrist swelling, Bicarbonaturia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight prote... |
OMIM:309000 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Osteopenia, Urethral stricture, Flexion contracture, Gastrointestinal inflammation, Squamous cell... |
ORPHA:79408 |
Deeah Syndrome |
|
Decreased hemoglobin concentration, Anterior pituitary hypoplasia, Decreased response to growth h... |
OMIM:619004 |
Galloway-Mowat Syndrome 1 |
|
Hypoplasia of the iris, Microphthalmia, Intrauterine growth retardation, Oligohydramnios |
OMIM:251300 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,... |
OMIM:184253 |
Hypothyroidism, Congenital, Nongoitrous, 9 |
|
Inappropriately normal thyroid-stimulating hormone level, Short stature, Central hypothyroidism, ... |
OMIM:301035 |
Sickle Cell Disease |
|
Hepatomegaly, Hemolytic anemia, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Spleni... |
OMIM:603903 |
Asplenia, Isolated Congenital |
|
Asplenia, Thrombocytosis, Howell-Jolly bodies |
OMIM:271400 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Mandibular prognathia, Narrow nasal base, Wide nose, Cleft ala nasi, Pelvic girdle muscle atrophy... |
ORPHA:3044 |
Kasabach-Merritt Syndrome |
|
Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An... |
ORPHA:2330 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Limitation of movement at ankles, Mandibular prognathia, Hypopigmentation of hair, Protruding ton... |
ORPHA:98794 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Intestinal malrotation, Partial atrioventricular canal defect, Situs inversus totalis, Primum atr... |
OMIM:619608 |
Q Fever |
|
Pericarditis, Myocarditis, Thrombocytopenia, Vasculitis, Splenomegaly, Hepatosplenomegaly, Abnorm... |
ORPHA:781 |
Joubert Syndrome 17 |
|
Abnormal retinal morphology, Postaxial polydactyly, Preaxial polydactyly, Molar tooth sign on MRI... |
OMIM:614615 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... |
OMIM:108900 |
Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Pancytopenia, Hematemesis, Thrombocytopenia, Splenomegaly, Vasculitis, Hematoch... |
OMIM:615846 |
Papillorenal Syndrome |
|
Microphthalmia, Edema |
OMIM:120330 |
Psoriasis 14, Pustular |
|
Psoriasiform dermatitis, Neutrophilia, Cholangitis, Leukocytosis, Oligoarthritis, Furrowed tongue... |
OMIM:614204 |
Mogs-Cdg |
|
Hepatosplenomegaly, Hydrocele testis, Inappropriate antidiuretic hormone secretion, Hypothyroidis... |
ORPHA:79330 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cerebellar atrophy, Protruding tongue, Limb hypertonia, Hand clenching, Ventriculomegaly, Hearing... |
OMIM:619580 |
Norrie Disease |
|
Hypoplasia of the iris, Microphthalmia, Buphthalmos |
OMIM:310600 |
Yellow Fever |
|
Shock, Neutrophilia, Supraventricular arrhythmia, Hematemesis, Leukocytosis, Pancreatic hyperplas... |
ORPHA:99829 |
Protoporphyria, Erythropoietic, 1 |
|
Cholelithiasis, Hepatic failure, Hemolytic anemia, Edema |
OMIM:177000 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Decreased hemoglobin concentration, Decreased heart rate variability, Thrombocytopenia, Cryptorch... |
OMIM:619005 |
3Q29 Microdeletion Syndrome |
|
Microphthalmia, Subvalvular aortic stenosis |
ORPHA:65286 |
Protoporphyria, Erythropoietic, X-Linked |
|
Elevated hepatic transaminase, Cholelithiasis, Iron deficiency anemia |
OMIM:300752 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Distal lower limb amyotrophy, Alopecia, Corneal opacity, Craniosynostosis, Oral mucosal blisters,... |
ORPHA:79396 |
Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Decreased proportion of naive T cells, Bronchitis, Oral ulcer, T lymphocytopenia... |
OMIM:619381 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemolytic anemia, Reticulocytosis, Pancytopenia, Myocardial infarction, Pulmonary embolism, Abnor... |
ORPHA:447 |
Isotretinoin Embryopathy-Like Syndrome |
|
Micrognathia, Hydrocephalus, Conotruncal defect, Cleft palate, Anotia, Microtia |
OMIM:243440 |
Shigellosis |
|
Myocarditis, Leukocytosis, Hypovolemic shock, Microangiopathic hemolytic anemia, Splenic abscess,... |
ORPHA:810 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Microphthalmia, Optic nerve hypoplasia |
OMIM:614643 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Cardiomyopathy, Thrombocytopenia |
ORPHA:572798 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Tachycardia, Posteriorly placed tongue, Aplasia/Hypoplasia of the distal phalanges of the toes, S... |
OMIM:192445 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Thrombocytopenia, Hypoplastic nipples, Anemia |
ORPHA:261323 |
Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
Curry-Jones Syndrome |
|
Occipital meningocele, Microphthalmia, Lipomyelomeningocele |
OMIM:601707 |
Nance-Horan Syndrome |
|
Microphthalmia |
OMIM:302350 |
Gaucher Disease, Perinatal Lethal |
|
Splenomegaly, Thrombocytopenia, Anemia, Hepatosplenomegaly |
OMIM:608013 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Brittle hair, Abnormal oral mucosa morphology, Conical tooth, Hypoplasia of the maxilla, Microdon... |
OMIM:305100 |
Lelis Syndrome |
|
Mandibular prognathia, Carious teeth, Yellow nails, Palmoplantar hyperkeratosis, Furrowed tongue,... |
ORPHA:140936 |
Gaucher Disease Type 3 |
|
Pancytopenia, Splenomegaly, Anemia, Delayed puberty, Pulmonary arterial hypertension, Thrombocyto... |
ORPHA:77261 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Splenomegaly, Thrombocytopenia, Portal hypertension |
OMIM:251880 |
Warburg Micro Syndrome 2 |
|
Microphthalmia |
OMIM:614225 |
Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Sudden cardiac death, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:537 |
Hyperbiliverdinemia |
|
Cholelithiasis, Decreased liver function, Cholestasis, Green urine |
OMIM:614156 |
Granulomatosis With Polyangiitis |
|
Subglottic stenosis, Sinusitis, Diffuse alveolar hemorrhage, Keratitis, Retinal hemorrhage, Local... |
OMIM:608710 |
Castleman Disease |
|
Restrictive cardiomyopathy, Thrombocytopenia, Decreased mean corpuscular volume, Anemia |
ORPHA:160 |
Martinez-Frias Syndrome |
|
Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Hy... |
OMIM:601346 |
Plague |
|
Hepatomegaly, Tachycardia, Chapped lip, Mydriasis, Conjunctival hyperemia, Edema, Hematemesis, Sp... |
ORPHA:707 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Accelerated atherosclerosis, Hepatitis, Cholestasis, Acute hepatic steatosis, Aortic atherosclero... |
ORPHA:209902 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Retinal telangiectasia, Anemia, Intestinal bleeding, Gastrointestinal telangiectasia, Thrombocyto... |
OMIM:612199 |
Spondylospinal Thoracic Dysostosis |
|
Multiple pterygia, Micrognathia, Hypoplasia of the maxilla, Short thorax, Pulmonary hypoplasia, A... |
OMIM:601809 |
Celiac Artery Stenosis From Compression By Median Arcuate Ligament Of Diaphragm |
|
Celiac artery compression |
OMIM:116870 |
Cleft Velum |
|
Cleft soft palate, Oral-pharyngeal dysphagia, Hypoplasia of the maxilla, Velopharyngeal insuffici... |
ORPHA:99772 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Severe B lymphocytopenia, Portal hypertension, Thrombocytopenia, Cryptorchidism... |
OMIM:620005 |
Farber Disease |
|
Thrombocytopenia, Anemia, Hepatosplenomegaly |
ORPHA:333 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Thrombocytopenia, Anemia |
OMIM:619743 |
Acrodermatitis Enteropathica |
|
Abnormal eyebrow morphology, Alopecia, Short stature, Malabsorption, Corneal erosion, Abnormality... |
ORPHA:37 |
Darier-White Disease |
|
Enlargement of parotid gland, Palmar pits |
OMIM:124200 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Mandibular prognathia, Hypopigmentation of hair, Protruding tongue, Wide mouth, Widely spaced tee... |
ORPHA:98795 |
Angelman Syndrome Due To A Point Mutation |
|
Mandibular prognathia, Hypopigmentation of hair, Protruding tongue, Wide mouth, Widely spaced tee... |
ORPHA:411511 |
Hartnup Disease |
|
Abnormal urinary color, Short stature, Malabsorption, Gingivitis, Glossitis, Neutral hyperaminoac... |
ORPHA:2116 |
Trichothiodystrophy |
|
Ventricular septal defect, Bilateral microphthalmos, Cardiomyopathy, Umbilical hernia, Dry skin, ... |
ORPHA:33364 |
Tempi Syndrome |
|
Transudative pleural effusion, Telangiectasia, Intracranial hemorrhage, Increased hematocrit, Abn... |
ORPHA:284227 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Microphthalmia |
OMIM:156610 |
Oculoauricular Syndrome |
|
Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia, Spina bifida occulta |
OMIM:612109 |
Low Phospholipid-Associated Cholelithiasis |
|
Elevated hepatic transaminase, Liver abscess, Diabetes mellitus, Cholangitis, Intrahepatic choles... |
ORPHA:69663 |
Teebi-Shaltout Syndrome |
|
Microphthalmia, Aortic valve stenosis, Ventricular septal defect |
OMIM:272950 |
Thoracic Outlet Syndrome |
|
Varicose veins, Abnormal rib morphology, Edema |
ORPHA:97330 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Thrombocytopenia |
ORPHA:457351 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... |
OMIM:610655 |
Holocarboxylase Synthetase Deficiency |
|
Thrombocytopenia |
OMIM:253270 |
Persistent Hyperplastic Primary Vitreous |
|
Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia |
ORPHA:91495 |
Thoracoabdominal Syndrome |
|
Omphalocele, Hypospadias, Congenital diaphragmatic hernia, Cleft upper lip, Patent ductus arterio... |
OMIM:313850 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Atrial septal defect, Microphthalmia, Histiocytoid c... |
OMIM:309801 |
Dubowitz Syndrome |
|
Hypoparathyroidism, Abnormality of neutrophils, Cryptorchidism, Acute lymphoblastic leukemia, Ane... |
ORPHA:235 |
Czech Dysplasia |
|
Narrow femoral neck, Osteochondroma, Short metacarpal, Flat capital femoral epiphysis, Short toe,... |
OMIM:609162 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Edema, Por... |
ORPHA:3202 |
Lathosterolosis |
|
Thrombocytopenia, Anisopoikilocytosis, Abnormal platelet morphology |
ORPHA:46059 |
Microphthalmia, Lenz Type |
|
Microphthalmia |
ORPHA:568 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... |
OMIM:618780 |
Gallbladder Disease 4 |
|
Cholelithiasis |
OMIM:611465 |
Pauci-Immune Glomerulonephritis |
|
Abnormality of the gastrointestinal tract, Renal insufficiency, Proteinuria, Glomerulonephritis, ... |
ORPHA:93126 |
Generalized Pustular Psoriasis |
|
Elevated hepatic transaminase, Renal insufficiency, Congestive heart failure, Leukocytosis, Cheil... |
ORPHA:247353 |
Klippel-Trenaunay-Weber Syndrome |
|
Syndactyly, Macrodactyly, Lymphedema, Hand oligodactyly, Hand polydactyly, Arteriovenous fistula,... |
OMIM:149000 |
8Q21.11 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:284160 |
Lysinuric Protein Intolerance |
|
Splenomegaly, Anemia, Leukopenia, Hemophagocytosis, Thrombocytopenia, Pulmonary hemorrhage |
OMIM:222700 |
Oculo-Palato-Cerebral Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:2714 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Buphthalmos, Microphthalmia, Phthisis bulbi |
OMIM:221900 |
Rift Valley Fever |
|
Hematemesis, Retinal hemorrhage, Melena, Anemia, Thrombocytopenia |
ORPHA:319251 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Cupped ear, Hand monodacty... |
OMIM:119100 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Microphthalmia |
OMIM:618727 |
Lysinuric Protein Intolerance |
|
Hypertriglyceridemia, Decreased response to growth hormone stimulation test, Hepatosplenomegaly, ... |
ORPHA:470 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Microphthalmia |
OMIM:614230 |
Xeroderma Pigmentosum, Complementation Group B |
|
Microphthalmia |
OMIM:610651 |
Poirier-Bienvenu Neurodevelopmental Syndrome |
|
Mandibular prognathia, Protruding tongue, Downturned corners of mouth, Open mouth, Smooth philtrum |
OMIM:618732 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Abnormal brainstem morphology, Hypertension, Pollakisuria, Urinary bladder sphincter dysfunction,... |
ORPHA:93256 |
Gaucher Disease, Type Ii |
|
Splenomegaly, Thrombocytopenia, Anemia |
OMIM:230900 |
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
Hypoglycosylation of alpha-dystroglycan, Cataract, Cerebellar vermis hypoplasia, Retinal dystroph... |
ORPHA:370997 |
Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Short mandibular condyles, Hypoplasia of the maxilla, Ulnar radial head dislocation |
OMIM:264270 |
Congenital Pulmonary Valvar Stenosis |
|
Atrial septal defect, Laryngeal stenosis |
ORPHA:3189 |
Xeroderma Pigmentosum, Complementation Group D |
|
Microphthalmia |
OMIM:278730 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Thin upper lip vermilion, Anal stenosis, Rieger anomaly, Hypospadias, Decreased response to growt... |
OMIM:180500 |
Brucellosis |
|
Pericarditis, Transient ischemic attack, Hypersplenism, Myocarditis, Leukocytosis, Thrombocytopen... |
ORPHA:1304 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Neutropenia, Thrombocytopenia, Megaloblastic anemia |
OMIM:277400 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... |
OMIM:613470 |
Familial Acute Necrotizing Encephalopathy |
|
Choroid hemorrhage, Abnormal brainstem MRI signal intensity, Abnormal brainstem morphology, Abnor... |
ORPHA:88619 |
Exercise-Induced Malignant Hyperthermia |
|
Prolonged QT interval, ST segment depression, Hypotension, Abnormal T-wave, Abnormal pulse pressu... |
ORPHA:466650 |
Gallbladder Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit... |
ORPHA:100086 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... |
OMIM:246570 |
Plasminogen Deficiency, Type I |
|
Duodenal ulcer, Hydrocephalus, Recurrent upper respiratory tract infections, Gingival overgrowth,... |
OMIM:217090 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Microphthalmia |
OMIM:110100 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Postnatal growth retardation, Splenomegaly, Jaundice, Abnormal... |
ORPHA:288 |
Ohdo Syndrome, X-Linked |
|
Microphthalmia |
OMIM:300895 |
Dubowitz Syndrome |
|
Hypoplasia of the iris, Microphthalmia, Intrauterine growth retardation |
OMIM:223370 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Finger syndactyly, Toe syndactyly, Elbow dislocation, Patent ductus arteriosus, Aplasia/Hypoplasi... |
ORPHA:1112 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Hepatomegaly, Jaundice, Intrahepatic cholestasis, Cholelithiasis |
OMIM:605479 |
Nijmegen Breakage Syndrome |
|
Conjunctival telangiectasia, Autoimmune hemolytic anemia, T lymphocytopenia, B lymphocytopenia, T... |
OMIM:251260 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Normochromic anemia, Thrombocytopenia |
OMIM:254900 |
Mend Syndrome |
|
Microphthalmia, Aortic valve stenosis, Abnormal heart morphology |
ORPHA:401973 |
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 |
|
Skeletal muscle atrophy, Myositis, Biliary atresia, Calf muscle hypertrophy, Proximal muscle weak... |
ORPHA:565899 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Nonspherocytic h... |
OMIM:235700 |
Cockayne Syndrome B |
|
Hypoplasia of the iris, Microphthalmia, Dry skin, Intrauterine growth retardation |
OMIM:133540 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Raynaud phenomenon, Hypertension, Leukopenia, Thrombocytopenia |
ORPHA:536 |
Pitt-Hopkins-Like Syndrome 2 |
|
Protruding tongue, Wide mouth, Gastroesophageal reflux, Scoliosis, Pulmonic stenosis |
OMIM:614325 |
Momo Syndrome |
|
Bilateral microphthalmos |
ORPHA:2563 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Microphthalmia |
ORPHA:1236 |
Multiple Synostoses Syndrome 4 |
|
Otosclerosis, Overlapping toe, Tarsal synostosis, Brachydactyly |
OMIM:617898 |
Oculodentodigital Dysplasia |
|
Atrial septal defect, Microphthalmia |
OMIM:164200 |
Fanconi Anemia, Complementation Group L |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:614083 |
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of |
|
Enlargement of parotid gland |
OMIM:600343 |
Leptospirosis |
|
Pericarditis, First degree atrioventricular block, Retinal hemorrhage, Subconjunctival hemorrhage... |
ORPHA:509 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Vertebral fusion, Unilateral renal agenesis, Ectopic kidney, Abnormal sacrum morphology, Abnormal... |
ORPHA:3109 |
Roberts Syndrome |
|
Microphthalmia, Severe intrauterine growth retardation, Polyhydramnios |
ORPHA:3103 |
Odontoonychodermal Dysplasia |
|
Sparse scalp hair, Dry hair, Short nail, Sparse eyebrow, Palmoplantar hyperkeratosis, Abnormality... |
OMIM:257980 |
Congenital Erythropoietic Porphyria |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Leukopenia, Poikilocytosis, Erythr... |
ORPHA:79277 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Abnormality of the endocrine system, Thrombocytopenia, Increased mean platelet volume |
ORPHA:487796 |
Acute Liver Failure |
|
Shock, Gastrointestinal hemorrhage, Intracranial hemorrhage, Adrenal insufficiency, Hypotension, ... |
ORPHA:90062 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Aplasia of the ulna, Hand oligodactyly, Hydrops fetalis, Endocardial fibroelastosis, Neonatal death |
OMIM:276822 |
Linear Nevus Sebaceus Syndrome |
|
Microphthalmia |
ORPHA:2612 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis |
OMIM:182900 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Splenomegaly, Thrombocytopenia |
OMIM:301072 |
Isolated Arrhinia |
|
Microphthalmia |
ORPHA:1134 |
Acrofrontofacionasal Dysostosis 1 |
|
Microphthalmia |
OMIM:201180 |
Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Abnormal thorax morphology, Transposition of the g... |
ORPHA:1461 |
Nijmegen Breakage Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Thrombocytopenia, Acute leukemia |
ORPHA:647 |
Glomuvenous Malformation |
|
Abnormality of the nasal cavity, Oral mucosa nodule, Gastrointestinal arteriovenous malformation,... |
ORPHA:83454 |
Gaucher Disease |
|
Pancytopenia, Splenomegaly, Anemia, Delayed puberty, Pulmonary arterial hypertension, Thrombocyto... |
ORPHA:355 |
Frontofacionasal Dysplasia |
|
Cranium bifidum occultum, Microphthalmia |
OMIM:229400 |
Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Pancytopenia, Cryptorchidism, Anemia, Leukopenia, Decreased testicular si... |
OMIM:305000 |
Aicardi-Goutières Syndrome |
|
Diabetes mellitus, Neonatal alloimmune thrombocytopenia, Raynaud phenomenon, Chronic lymphatic le... |
ORPHA:51 |
Microphthalmia, Syndromic 1 |
|
Microphthalmia, Anophthalmia, Bicuspid aortic valve |
OMIM:309800 |
Cockayne Syndrome Type 3 |
|
Microphthalmia, Cardiomyopathy |
ORPHA:90324 |
Rothmund-Thomson Syndrome, Type 2 |
|
Microphthalmia |
OMIM:268400 |
X-Linked Dystonia-Parkinsonism |
|
Impaired oropharyngeal swallow response, Aspiration pneumonia, Protruding tongue |
ORPHA:53351 |
Chand Syndrome |
|
Curly hair, Short fifth metatarsal, Depressed nasal bridge, Hydroureter, Atelectasis, Cleft palat... |
ORPHA:1401 |
Familial Cerebral Cavernous Malformation |
|
Retinal cavernous angioma, Cerebral hemorrhage, Focal T2 hyperintense brainstem lesion, Focal T2 ... |
ORPHA:221061 |
Otosclerosis 7 |
|
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... |
OMIM:611572 |
Kenny-Caffey Syndrome, Type 2 |
|
Microphthalmia |
OMIM:127000 |
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset |
|
Ankyloglossia, Scoliosis |
OMIM:619352 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Urethral stricture, Chapped lip, Short stature, Abnormal dental morphology, Abnormality of the de... |
ORPHA:158668 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Microphthalmia |
OMIM:601552 |
Cockayne Syndrome |
|
Microphthalmia, Premature skin wrinkling |
ORPHA:191 |
Duodenal Atresia |
|
Duodenal atresia |
OMIM:223400 |
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth |
|
Macrodactyly, Lymphedema, Varicose veins, Capillary malformation of the lip, Venous malformation |
OMIM:613089 |
Deafness, Autosomal Dominant 80 |
|
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia |
OMIM:619274 |
Ketamine-Induced Biliary Dilatation |
|
Abnormal biliary tract morphology, Dysuria |
ORPHA:293807 |
Craniofacial-Deafness-Hand Syndrome |
|
Ulnar deviation of the hand, Depressed nasal bridge, Hypoplasia of the maxilla, Sensorineural hea... |
OMIM:122880 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
Hypoglossia-Hypodactylia |
|
Micrognathia, Adactyly, Split hand, Aglossia, Narrow mouth, Microglossia, Retrognathia |
OMIM:103300 |
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta |
|
Coarctation of abdominal aorta, Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis |
OMIM:226100 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Craniosynostosis, Micrognathia, Poorly formed metencephalon, Aprosencephaly, Talipes equinovarus,... |
OMIM:601374 |
Otosclerosis 8 |
|
Otosclerosis, Hearing impairment |
OMIM:612096 |
Otosclerosis 3 |
|
Otosclerosis, Hearing impairment |
OMIM:608244 |
Ankyloglossia With Or Without Tooth Anomalies |
|
Supernumerary tooth, Ankyloglossia |
OMIM:106280 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Microphthalmia |
OMIM:616734 |
Tukel Syndrome |
|
Syndactyly, Congenital fibrosis of extraocular muscles, Carpal synostosis, Carpal bone aplasia, P... |
OMIM:609428 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly |
OMIM:228250 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Intrauterine growth retardation, Bilateral microphthalmos |
ORPHA:93325 |
Otosclerosis 1 |
|
Conductive hearing impairment, Otosclerosis |
OMIM:166800 |
Witteveen-Kolk Syndrome |
|
Microphthalmia, Intrauterine growth retardation, Polyhydramnios, Branchial fistula |
OMIM:613406 |
Otosclerosis 4 |
|
Otosclerosis, Mixed hearing impairment |
OMIM:611571 |
Hypoplasminogenemia |
|
Duodenal ulcer, Hydrocephalus, Gingival overgrowth, Gingivitis, Nephrolithiasis, Periodontitis, A... |
ORPHA:722 |
Otosclerosis 10 |
|
Otosclerosis |
OMIM:615589 |
Arteriovenous Malformations Of The Brain |
|
Cerebral arteriovenous malformation |
OMIM:108010 |
Goodpasture Syndrome |
|
Pallor |
OMIM:233450 |
Pachyonychia Congenita 3 |
|
Chapped lip, Gingivitis, Furrowed tongue, Palmoplantar keratoderma, Nail dystrophy, Palmar hyperk... |
OMIM:615726 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hypoplasia of the iris, Microphthalmia |
OMIM:175780 |
Aprosencephaly Syndrome |
|
Aprosencephaly, Anencephaly, Hand oligodactyly |
OMIM:207770 |
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form |
|
Palpebral edema, Hypospadias, Micrognathia, Postnatal growth retardation, Wide mouth, Gastroesoph... |
ORPHA:79350 |