Triphalangeal Thumb, Nonopposable |
|
Polydactyly, Triphalangeal thumb |
OMIM:190600 |
Digital Clubbing, Isolated Congenital |
|
Clubbing |
OMIM:119900 |
Tendons, Extensor, Of Fingers, Anomalous Insertion Of |
|
Abnormal finger morphology |
OMIM:187390 |
Trigger Thumb |
|
Abnormal thumb morphology |
OMIM:190410 |
Syndactyly Type 2 |
|
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... |
ORPHA:93403 |
Polydactyly, Preaxial Iii |
|
Preaxial polydactyly, Triphalangeal thumb |
OMIM:174600 |
Polydactyly, Postaxial, Type A9 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly |
OMIM:618219 |
Polydactyly, Postaxial, Type A10 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Postaxial polydactyly type A |
OMIM:618498 |
Oliver Syndrome |
|
Postaxial hand polydactyly |
OMIM:258200 |
Polydactyly, Postaxial, Type A2 |
|
Postaxial hand polydactyly |
OMIM:602085 |
Polydactyly, Preaxial I |
|
Preaxial hand polydactyly, Partial duplication of thumb phalanx, Radial deviation of thumb termin... |
OMIM:174400 |
Syndactyly, Type Iv |
|
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... |
OMIM:186200 |
Polydactyly, Postaxial, Type A1 |
|
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... |
OMIM:174200 |
Polydactyly, Preaxial Iv |
|
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... |
OMIM:174700 |
Triphalangeal Thumb With Polysyndactyly |
|
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... |
OMIM:190605 |
Polydactyly, Preaxial Ii |
|
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... |
OMIM:174500 |
Hallux Varus And Preaxial Polysyndactyly |
|
Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus |
OMIM:234280 |
Synpolydactyly 1 |
|
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... |
OMIM:186000 |
Dandy-Walker Malformation-Postaxial Polydactyly Syndrome |
|
Postaxial hand polydactyly |
ORPHA:1566 |
Congenital Radioulnar Synostosis |
|
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... |
ORPHA:3269 |
Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
Polydactyly, Postaxial, Type A5 |
|
Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis |
OMIM:263450 |
Syndactyly Type 1 |
|
Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand |
ORPHA:93402 |
Preaxial Hallucal Polydactyly |
|
Preaxial hand polydactyly, Preaxial foot polydactyly |
OMIM:601759 |
Acropectoral Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
Brachydactyly, Type C |
|
Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco... |
OMIM:113100 |
Syndactyly-Polydactyly-Earlobe Syndrome |
|
Broad toe, Preaxial hand polydactyly, 1-2 toe complete cutaneous syndactyly, Preaxial foot polyda... |
OMIM:186350 |
Santos Syndrome |
|
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... |
OMIM:613005 |
Scalp Defects And Postaxial Polydactyly |
|
Postaxial polydactyly type A |
OMIM:181250 |
Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... |
ORPHA:93405 |
Ectrodactyly-Polydactyly Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... |
ORPHA:1892 |
Polydactyly, Postaxial, Type A7 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Short fifth metatarsal, 2-3 toe cutaneous... |
OMIM:617642 |
Syndactyly, Type Iii |
|
Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger |
OMIM:186100 |
Polydactyly, Postaxial, Type A8 |
|
Postaxial polydactyly, Genu valgum |
OMIM:618123 |
Acropectoral Syndrome |
|
Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb |
OMIM:605967 |
Ectrodactyly-Polydactyly |
|
Split hand, Postaxial hand polydactyly, Split foot |
OMIM:225290 |
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias |
|
Short thumb, Postaxial hand polydactyly, Short 5th finger, Short 2nd toe |
OMIM:176305 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... |
OMIM:618167 |
Synpolydactyly 2 |
|
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... |
OMIM:608180 |
Polydactyly, Postaxial, With Progressive Myopia |
|
Postaxial hand polydactyly |
OMIM:174310 |
Split-Foot Malformation With Mesoaxial Polydactyly |
|
1-2 toe syndactyly, Mesoaxial hand polydactyly, 4-5 toe syndactyly, Split hand, Split foot |
OMIM:616890 |
Bardet-Biedl Syndrome 11 |
|
Polydactyly |
OMIM:615988 |
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome |
|
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl... |
ORPHA:488232 |
Bardet-Biedl Syndrome 14 |
|
Polydactyly |
OMIM:615991 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
Jawad Syndrome |
|
Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd... |
OMIM:251255 |
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Mesomelia, Brac... |
OMIM:611263 |
Bardet-Biedl Syndrome 5 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615983 |
Postaxial Oligodactyly, Tetramelic |
|
Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat... |
OMIM:176240 |
Gombo Syndrome |
|
Abnormal heart morphology, Radial deviation of finger, Microphthalmia, Clinodactyly, Brachydactyly |
OMIM:233270 |
Postaxial Tetramelic Oligodactyly |
|
Abnormal finger morphology, Ectrodactyly, Oligodactyly, Abnormal metacarpal morphology |
ORPHA:2730 |
Triphalangeal Thumbs With Brachyectrodactyly |
|
Short 3rd toe, Split hand, Split foot, Triphalangeal thumb, Short 2nd finger, Brachydactyly |
OMIM:190680 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Preaxial foot polydactyly, Postaxial hand polydactyly, Triphalangeal thumb |
ORPHA:2091 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Syndactyly, Abnormal heart morphology, Upper limb phocomelia, Abnormal cardiac septum morphology,... |
ORPHA:294975 |
Microphthalmia, Isolated 4 |
|
Postaxial polydactyly |
OMIM:613094 |
Split-Hand/Foot Malformation 4 |
|
Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th... |
OMIM:605289 |
Legg-Calvé-Perthes Disease |
|
Cartilage destruction, Short stature, Joint dislocation |
ORPHA:2380 |
Bardet-Biedl Syndrome 7 |
|
Clinodactyly, Polydactyly, 2-3 toe syndactyly, Postaxial polydactyly |
OMIM:615984 |
Brachydactyly-Syndactyly Syndrome |
|
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... |
OMIM:610713 |
Split-Hand/Foot Malformation 6 |
|
Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly |
OMIM:225300 |
Adams-Oliver Syndrome 4 |
|
Atrial septal defect, Ventricular septal defect, Short toe, Patent ductus arteriosus, Absent midd... |
OMIM:615297 |
Bardet-Biedl Syndrome 10 |
|
Polydactyly |
OMIM:615987 |
Joubert Syndrome 15 |
|
Micropenis, Preaxial polydactyly, Exencephaly, Nephronophthisis |
OMIM:614464 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Abnormal anterior horn cell morphology, Rocker bottom foot, Single transverse palmar crease, Pauc... |
OMIM:611890 |
Split-Hand/Foot Malformation 2 |
|
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger |
OMIM:313350 |
Meckel Syndrome, Type 11 |
|
Polydactyly |
OMIM:615397 |
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Postaxial polydactyly |
OMIM:213010 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Rocker bottom foot, Edema, Talipes equinovarus, Microphthalmia, Agenesis of corpus callosum |
OMIM:616570 |
Tetramelic Monodactyly |
|
Split hand, Oligodactyly |
ORPHA:2564 |
Orofaciodigital Syndrome Xviii |
|
Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Preaxial polydactyly, Genu va... |
OMIM:617927 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P... |
OMIM:618728 |
Polydactyly, Postaxial, Type A6 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Broad phalanges of the 5th finger |
OMIM:615226 |
Carpenter Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Postaxial hand polydactyly, Genu valgum, Polydacty... |
ORPHA:65759 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Preaxial foot polydactyly, Polysyndactyly of hallux |
OMIM:235750 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Hand muscle atrophy, Abnormal lower motor neuron morphology, Hand muscle weakness |
OMIM:607641 |
Frontonasal Dysplasia 1 |
|
Postaxial hand polydactyly, Anterior basal encephalocele, Tetralogy of Fallot, Pectoral muscle hy... |
OMIM:136760 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Pericardial effusion, Polydactyly, Talipes ... |
OMIM:613885 |
Ulnar Hemimelia |
|
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... |
ORPHA:93320 |
Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A... |
OMIM:135750 |
Bardet-Biedl Syndrome 4 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615982 |
Spinal Muscular Atrophy, Segmental |
|
Hand muscle atrophy, Abnormal anterior horn cell morphology |
OMIM:183020 |
Camptobrachydactyly |
|
Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly |
OMIM:114150 |
Heart-Hand Syndrome Type 2 |
|
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the hume... |
ORPHA:1350 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Congenital hip dislocation, Long distal phalanx of finger, Slender proximal phalanx of finger, Di... |
OMIM:603546 |
Joubert Syndrome 18 |
|
Joint laxity, Occipital encephalocele, Bowing of the long bones, Trident pelvis, Postaxial polyda... |
OMIM:614815 |
Craniotelencephalic Dysplasia |
|
Septo-optic dysplasia, Hydrocephalus, Frontal encephalocele, Microphthalmia, Agenesis of corpus c... |
ORPHA:1528 |
Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Abnormal motor neuron morphology |
DECIPHER:29 |
Bardet-Biedl Syndrome 16 |
|
Renal insufficiency, Short stature, Stage 5 chronic kidney disease, Renal cyst, Polydactyly |
OMIM:615993 |
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Short long bone, Polydactyly, Brachydactyly |
OMIM:613819 |
Nevus Comedonicus Syndrome |
|
Finger syndactyly, Toe syndactyly, Spina bifida, Preaxial polydactyly, Spina bifida occulta |
ORPHA:64754 |
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 |
Primary Lateral Sclerosis, Adult, 1 |
|
Abnormal upper motor neuron morphology |
OMIM:611637 |
Mmep Syndrome |
|
Ventricular septal defect, Cryptorchidism, Split foot, Triphalangeal thumb, Microphthalmia |
ORPHA:3434 |
Short Stature, Dauber-Argente Type |
|
Long toe, Osteopenia, Arachnodactyly, Short stature, Decreased fibular diameter, Postnatal growth... |
OMIM:619489 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Neural tube defect, Anophthalmia |
OMIM:600776 |
Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology |
DECIPHER:31 |
Short Stature, Brussels Type |
|
Short stature, Delayed epiphyseal ossification, Horseshoe kidney, Growth delay, Calcification of ... |
ORPHA:2867 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, Anencephaly, Re... |
OMIM:603194 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Bowing of the long bones, Ventricular septal defect, Hydrocephalus, Postaxial hand... |
OMIM:611134 |
Bardet-Biedl Syndrome 22 |
|
Postaxial foot polydactyly, Polydactyly |
OMIM:617119 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Abnormal lower motor neuron morphology, Joint contracture of the hand, Talipes equinovarus |
OMIM:611067 |
Oculocerebrocutaneous Syndrome |
|
Anophthalmia, Congenital hip dislocation, Cryptorchidism, Orbital encephalocele, Microphthalmia, ... |
OMIM:164180 |
Joubert Syndrome 16 |
|
Encephalocele, Polydactyly, Renal cyst, Nephronophthisis |
OMIM:614465 |
Biemond Syndrome Type 2 |
|
Hypospadias, Short stature, Hydrocephalus, Preaxial polydactyly, Delayed puberty |
ORPHA:141333 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Postaxial polydactyly, Cryptorchidism, Nephrocalcinosis, Short long bone, Horizontal ribs, Brachy... |
OMIM:615633 |
Hirschsprung Disease-Deafness-Polydactyly Syndrome |
|
Postaxial hand polydactyly, Foot polydactyly |
ORPHA:2155 |
Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad... |
ORPHA:2378 |
Bardet-Biedl Syndrome 9 |
|
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda... |
OMIM:615986 |
Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Frontal encephalocele, Agenesis of corpus callosum, Optic nerve hypoplasia |
OMIM:218670 |
Juvenile Primary Lateral Sclerosis |
|
Abnormal upper motor neuron morphology |
ORPHA:247604 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Syndactyly, Ventricular septal defect, Hydrocephalus, Polydactyly, Microphthalmia |
OMIM:602501 |
Hartsfield Syndrome |
|
Encephalocele, Split hand, Lobar holoprosencephaly, Aplasia/Hypoplasia of the radius, Microphthalmia |
ORPHA:2117 |
Orofaciodigital Syndrome Xvii |
|
Prominent metopic ridge, Short stature, Short middle phalanx of the 2nd finger, Partial duplicati... |
OMIM:617926 |
Spondyloepiphyseal Dysplasia Tarda |
|
Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint, Limited e... |
ORPHA:93284 |
Hydrolethalus |
|
Anophthalmia, Micromelia, Polyhydramnios, Cryptorchidism, Postaxial hand polydactyly, Hydrocephal... |
ORPHA:2189 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Short stature, Delayed closure of the anterior fontanelle, Postnatal growth retardation, Upper li... |
ORPHA:231140 |
Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Short toe, Preaxia... |
ORPHA:2756 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Microphthalmia, Occipital encephalocele, Hydrocephalus |
ORPHA:324416 |
Ollier Disease |
|
Micromelia, Joint stiffness, Abnormal cartilage morphology, Osteolysis, Multiple enchondromatosis... |
ORPHA:296 |
Multiple Osteochondromas |
|
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... |
ORPHA:321 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Hypospadias, Cryptorchidism, Polydactyly, Intrauterine growth retardation, Hypoplastic ischia |
OMIM:616910 |
Meckel Syndrome, Type 10 |
|
Occipital encephalocele, Ulnar deviation of the hand, Hypospadias, Postaxial polydactyly, Postaxi... |
OMIM:614175 |
Nephronophthisis 15 |
|
Polydactyly |
OMIM:614845 |
Joubert Syndrome 17 |
|
Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly |
OMIM:614615 |
Orofaciodigital Syndrome Xi |
|
Postaxial polydactyly |
OMIM:612913 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
Diaphanospondylodysostosis |
|
Missing ribs, Myelomeningocele, Narrow pelvis bone, Multiple renal cysts, Absent or minimally oss... |
ORPHA:66637 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... |
ORPHA:93322 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
Meckel Syndrome, Type 5 |
|
Occipital encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Anencephaly, Posta... |
OMIM:611561 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Bilateral microphthalmos, Anophthalmia, Holoprosencephaly |
OMIM:611638 |
2Q24 Microdeletion Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Long fingers, Bullet-shaped distal phalanx of the hallux... |
ORPHA:1617 |
Kniest Dysplasia |
|
Hip contracture, Enlarged joints, Rhizomelia, Dumbbell-shaped long bone, Abnormal cartilage colla... |
OMIM:156550 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short metatarsal, Cone-shaped... |
OMIM:617102 |
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Abnormal lower motor neuron morphology |
ORPHA:95434 |
Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Multicystic kidney dysplasia, Postaxial hand polydactyly, Hydrocephalus,... |
OMIM:607361 |
Xk Aprosencephaly Syndrome |
|
Abnormal morphology of the radius, Ventricular septal defect, Polyhydramnios, Atrial septal defec... |
ORPHA:3469 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Joint stiffness, Postnatal growth retardation, Cupped ribs, Metaphy... |
OMIM:608940 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly |
OMIM:300484 |
Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Mesomelic/rhizomelic limb sh... |
ORPHA:2347 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Hypospadias, Craniosynostosis, Postnatal... |
OMIM:614732 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Short stature, Microme... |
OMIM:614091 |
Joubert Syndrome 20 |
|
4-5 toe syndactyly, Postaxial polydactyly |
OMIM:614970 |
Three M Syndrome 1 |
|
Joint dislocation, Scapular winging, Short stature, Hypospadias, Postnatal growth retardation, Hi... |
OMIM:273750 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Missing ribs, ... |
OMIM:617866 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Abnormal long bone morphology, Cardiomyopathy, Amyotrophic lateral sclerosis, Abnormal motor neur... |
ORPHA:52430 |
Microphthalmia, Syndromic 12 |
|
Anophthalmia, Ventricular septal defect, Cryptorchidism, Hypoplastic left atrium, Neonatal death,... |
OMIM:615524 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Syndactyly, Hypospadias, Postnatal growth retardation, Cryptorchidism, Short 5th finger, Polydact... |
ORPHA:397590 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Sandal gap, Lens coloboma, 2-3 toe syndactyly, Small thenar eminence, Lateral ventricle dilatatio... |
OMIM:618914 |
Joubert Syndrome 40 |
|
Postaxial polydactyly |
OMIM:619582 |
Lissencephaly 8 |
|
Microphthalmia, Occipital encephalocele, Talipes equinovarus |
OMIM:617255 |
Congenital Toxoplasmosis |
|
Microphthalmia, Hydrocephalus, Ascites, Cardiomegaly |
ORPHA:858 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Hand polydactyly, Foot polydactyly, Short finger, Short ti... |
OMIM:258860 |
Joubert Syndrome 7 |
|
Encephalocele, Postaxial polydactyly, Postaxial hand polydactyly, Stage 5 chronic kidney disease,... |
OMIM:611560 |
Lethal Congenital Contracture Syndrome 1 |
|
Paucity of anterior horn motor neurons, Neonatal death, Edema |
OMIM:253310 |
Adams-Oliver Syndrome |
|
Encephalocele, Finger syndactyly, Brachydactyly, Abnormal pulmonary valve morphology, Absent toe,... |
ORPHA:974 |
Adams-Oliver Syndrome 2 |
|
Single transverse palmar crease, Hydrocephalus, Lateral ventricle dilatation, Absent distal phala... |
OMIM:614219 |
Atelosteogenesis, Type Ii |
|
Sandal gap, Micromelia, Bifid humerus, Lacunar halos around chondrocytes, Flat acetabular roof, S... |
OMIM:256050 |
Bardet-Biedl Syndrome 19 |
|
Ventricular septal defect, Mesoaxial hand polydactyly, Postaxial polydactyly, Partial atrioventri... |
OMIM:615996 |
Joubert Syndrome 23 |
|
Polydactyly |
OMIM:616490 |
Pelvis-Shoulder Dysplasia |
|
Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Hypoplastic acetabulae, Short... |
OMIM:169550 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Bowing of the long bones, Rhizomelia, Ventricular septal defect, Proximal placement of thumb, Abn... |
ORPHA:93267 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Postnatal growth retardation, Small hand, Thi... |
ORPHA:93324 |
Pelvis-Shoulder Dysplasia |
|
Syndactyly, Camptodactyly of finger, Fifth finger distal phalanx clinodactyly, Mesomelic/rhizomel... |
ORPHA:2839 |
Mosaic Trisomy 9 |
|
Ventricular septal defect, Rocker bottom foot, Micromelia, Camptodactyly of finger, Elbow disloca... |
ORPHA:99776 |
Larsen-Like Syndrome, Lethal Type |
|
Joint dislocation, Tracheomalacia, Multiple joint dislocation, Abnormal cartilage matrix, Neonata... |
OMIM:245650 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Ventricular septal defect, Dextrocardia, Cryptorchidism, Postaxial hand polydactyl... |
OMIM:264480 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Finger syndactyly, Broad hallux phalanx, Abnormal penis morphology, Hypospadias, P... |
ORPHA:2211 |
Hypomelia With Mullerian Duct Anomalies |
|
Postaxial hand polydactyly, Split hand |
OMIM:146160 |
Ivic Syndrome |
|
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab... |
OMIM:147750 |
9Q21.13 Microdeletion Syndrome |
|
Craniosynostosis, Postnatal growth retardation, Cryptorchidism, Hip dysplasia, Polydactyly, Hydro... |
ORPHA:531151 |
Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Sandal gap, Single transverse palmar crease, Unilateral cryptorchidism, Anophthal... |
OMIM:206920 |
Bardet-Biedl Syndrome 17 |
|
Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Postaxial hand polyda... |
OMIM:615994 |
Pierpont Syndrome |
|
Cryptorchidism, Short toe, Broad palm, Short foot, Deep palmar crease, Short finger, Short palm, ... |
OMIM:602342 |
Al-Gazali-Bakalinova Syndrome |
|
Epiphyseal dysplasia, Tapered finger, Lymphedema, Flattened epiphysis, Genu valgum, Polydactyly, ... |
OMIM:607131 |
Joubert Syndrome 10 |
|
Growth delay, Postaxial polydactyly |
OMIM:300804 |
Bardet-Biedl Syndrome 3 |
|
Postaxial polydactyly, Brachydactyly |
OMIM:600151 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Rhizomelia, Hydrocephalus, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping of meta... |
OMIM:300863 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microphthalmia, Partial agenesis of the corpus callosum, Talipes equinovarus |
OMIM:616171 |
Meckel Syndrome 14 |
|
Syndactyly, Bowing of the long bones, Occipital encephalocele, Postaxial polydactyly, Postaxial h... |
OMIM:619879 |
Laurence-Moon Syndrome |
|
Micropenis, Short stature, Polydactyly, Abnormality of the hand |
OMIM:245800 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia, Hydrocephalus |
OMIM:614830 |
Curry-Jones Syndrome |
|
Occipital meningocele, Duplication of thumb phalanx, Preaxial hand polydactyly, Microphthalmia, L... |
OMIM:601707 |
Septooptic Dysplasia |
|
Optic disc hypoplasia, Optic nerve hypoplasia, Decreased response to growth hormone stimulation t... |
OMIM:182230 |
Pierpont Syndrome |
|
Cryptorchidism, Short toe, Deep palmar crease, Short finger, Prominent fingertip pads, Microphtha... |
ORPHA:487825 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Sandal gap, Atrial septal defect, Microphthalmia, Tetralogy of Fallot, A... |
OMIM:300887 |
Bardet-Biedl Syndrome 8 |
|
Postaxial polydactyly |
OMIM:615985 |
Bresek Syndrome |
|
Optic nerve hypoplasia, Cryptorchidism, Postaxial hand polydactyly, Hydrocephalus, Neonatal death... |
ORPHA:85284 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Abnormal upper motor neuron morphology, Lateral ventricle dilatation, Abnormality of the hand |
OMIM:221770 |
Otopalatodigital Syndrome Type 2 |
|
Preaxial polydactyly, Short palm, Abnormal vertebral segmentation and fusion, Synostosis of carpa... |
ORPHA:90652 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Short stature, Metaphyseal spurs, Postaxial polydactyly, Horizontal ribs,... |
OMIM:613091 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia, Syndactyly, Clinodactyly, Brachydactyly |
OMIM:610023 |
Cousin Syndrome |
|
Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Wrist flexio... |
OMIM:260660 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Encephalocele, Cryptorchidism, Microphthalmia, Agenesis of corpus callosum, Oligohydramnios |
ORPHA:228390 |
Orofaciodigital Syndrome Vi |
|
Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxial polydactyly, Oc... |
OMIM:277170 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Occipital encephalocele, Optic nerve hypoplasia, Hydrocephalus, Decreased thalamic volume, Cardio... |
ORPHA:370959 |
Primary Lateral Sclerosis, Juvenile |
|
Abnormal upper motor neuron morphology |
OMIM:606353 |
Kniest Dysplasia |
|
Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea... |
ORPHA:485 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal lower motor neuron morphology, Abnormal mitochondrial morphology, Abnormal upper motor n... |
ORPHA:275872 |
Hogue-Janssen Syndrome 2 |
|
Prominent metopic ridge, Broad hallux, Postaxial polydactyly, Unilateral renal agenesis, Hydrocep... |
OMIM:616362 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Crossed fused renal ectopia, Overlapping toe, Postaxial polydactyly, Unilateral renal agenesis, P... |
OMIM:618142 |
Neu-Laxova Syndrome 1 |
|
Micromelia, Polyhydramnios, Calcaneovalgus deformity, Neonatal death, Patent foramen ovale, Agene... |
OMIM:256520 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Encephalocele, Overlapping toe, Single transverse palmar crease, Tapered finger, Short thumb, Cry... |
OMIM:619148 |
3P25.3 Microdeletion Syndrome |
|
Atrial septal defect, Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger,... |
ORPHA:435638 |
Moebius Syndrome |
|
Syndactyly, Brachydactyly, Microphthalmia, Split hand, Abnormal pelvic girdle bone morphology, Ta... |
OMIM:157900 |
Duane-Radial Ray Syndrome |
|
Optic disc hypoplasia, Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Atrial se... |
OMIM:607323 |
Familial Calcium Pyrophosphate Deposition |
|
Joint dislocation, Osteoarthritis, Limitation of joint mobility, Arthritis, Joint swelling, Calci... |
ORPHA:1416 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Prominent metopic ridge, Short stature, Overlapping toe, Postaxial polydactyly, Tapered finger, P... |
OMIM:613792 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Microphthalmia, Hydrocephalus, Cardiomyopathy |
OMIM:613155 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Camptodactyly of finger, Polyhydramnios, Patent ductus arteriosus, Symphalangism affecting the ph... |
ORPHA:2547 |
Conotruncal Heart Malformations |
|
Broad hallux, Postaxial polydactyly |
OMIM:217095 |
Congenital Sialidosis Type 2 |
|
Hypoplasia of the fovea, Edema, Hydrocephalus, Abnormal heart morphology, Polydactyly, Umbilical ... |
ORPHA:93400 |
Microcephaly-Micromelia Syndrome |
|
Micromelia, Absent thumb, Absent radius, Aqueductal stenosis, Humeroradial synostosis, Forearm un... |
OMIM:251230 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Rocker bottom foot, Coxa valga, Cryptorchidism, Elbow flexion contracture, Dehydration, Second me... |
OMIM:214150 |
Mosaic Trisomy 1 |
|
Single transverse palmar crease, Polyhydramnios, Finger clinodactyly, Absent distal interphalange... |
ORPHA:1692 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Short palm, Rhizomelia, Metaphyseal chondrodysplasia, Abnormality of the calcaneus, Hydrocephalus... |
ORPHA:163966 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Joubert Syndrome 14 |
|
Encephalocele, Ventricular septal defect, Postaxial polydactyly, Hydrocephalus, Meningocele, Micr... |
OMIM:614424 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Atrial septal defect, Overlapping toe, Ventricular septal defect, Cryptorchidism, Patent foramen ... |
OMIM:618494 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia |
ORPHA:2432 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
Dyggve-Melchior-Clausen Disease |
|
Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bowing, Narrow... |
OMIM:223800 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Joint laxity, Prominent metopic ridge, Arachnodactyly, Short stature, Postaxial polydactyly, Tape... |
OMIM:619721 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Hip contracture, Abnormal anterior horn cell morphology, Interphalangeal joint contracture of fin... |
ORPHA:1145 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Encephalocele, Rhizomelia, Postaxial polydactyly, Horizontal ribs, Cryptorchidism, Squared iliac ... |
OMIM:616300 |
Pelger-Huet Anomaly |
|
Upper limb undergrowth, Polydactyly, Short 3rd metacarpal, Umbilical hernia, Mild short stature, ... |
OMIM:169400 |
Cone-Rod Dystrophy 16 |
|
Postaxial polydactyly |
OMIM:614500 |
Pallister-Hall Syndrome |
|
Decreased response to growth hormone stimulation test, Holoprosencephaly, Neonatal death, Distal ... |
OMIM:146510 |
Senior-Loken Syndrome 9 |
|
Osteopenia, Hypoplasia of the femoral head, Stage 5 chronic kidney disease, Tubulointerstitial ne... |
OMIM:616629 |
Warburg Micro Syndrome 1 |
|
Microphthalmia, Cryptorchidism, Agenesis of corpus callosum, Overlapping toe |
OMIM:600118 |
17Q12 Microduplication Syndrome |
|
Finger syndactyly, Toe syndactyly, Polyhydramnios, Atrial septal defect, Microphthalmia |
ORPHA:261272 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105500 |
1Q21.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Cryptorchidism, Hydrocephalus, Patent ductus arteriosus, Sh... |
ORPHA:250989 |
Microphthalmia With Limb Anomalies |
|
Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of the 5th finge... |
ORPHA:1106 |
Joubert Syndrome 37 |
|
Prominent metopic ridge, Short stature, Postaxial polydactyly, Cryptorchidism, Hydronephrosis, Mi... |
OMIM:619185 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Abnormal lower motor neuron morphology |
ORPHA:2590 |
Fanconi Anemia, Complementation Group R |
|
Tethered cord, Absent thumb, Hydrocephalus, Microphthalmia, Radial dysplasia |
OMIM:617244 |
Trisomy 13 |
|
Anophthalmia, Ventricular septal defect, Cryptorchidism, Postaxial hand polydactyly, Patent ductu... |
ORPHA:3378 |
Monosomy 18P |
|
Lymphedema, Microphthalmia, Holoprosencephaly, Brachydactyly |
ORPHA:1598 |
Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
Spastic Paralysis, Infantile-Onset Ascending |
|
Abnormal lower motor neuron morphology |
OMIM:607225 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia, Agenesis of corpus callosum |
OMIM:274270 |
Frontorhiny |
|
Encephalocele, Camptodactyly of finger, Finger clinodactyly, Basal encephalocele, Cranium bifidum... |
ORPHA:391474 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Left ventricular hypertrophy, Microphthalmia, Hydrocephalus, Agenesis of corpus callosum |
OMIM:613153 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:616439 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:616437 |
Temtamy Syndrome |
|
Short toe, Genu varum, Clinodactyly of the 5th finger, Microphthalmia, Brachydactyly |
ORPHA:1777 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Ventricular septal defect, Postaxial polydactyly, Cryptorchidism, 2-3 toe syndactyly, Abnormal he... |
ORPHA:404440 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f... |
OMIM:210720 |
Focal Dermal Hypoplasia |
|
Finger syndactyly, Toe syndactyly, Ventricular septal defect, Abnormal palmar dermatoglyphics, Ca... |
ORPHA:2092 |
Vacterl With Hydrocephalus |
|
Anophthalmia, Spina bifida, Polyhydramnios, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, H... |
ORPHA:3412 |
Cofs Syndrome |
|
Microphthalmia, Camptodactyly of finger |
ORPHA:1466 |
Trisomy 18 |
|
Ventricular septal defect, Camptodactyly of finger, Spina bifida, Cryptorchidism, Postaxial hand ... |
ORPHA:3380 |
Gracile Bone Dysplasia |
|
Hydrocephalus, Flared metaphysis, Slender long bone, Aniridia, Microphthalmia, Ascites, Brachydac... |
OMIM:602361 |
Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:602099 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Anophthalmia, Ventricular septal defect, Cryptorchidism, Hydrocephalus, Patent ductus arteriosus,... |
ORPHA:77298 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Phocomelia, Split hand, Foot polydactyly |
ORPHA:3004 |
Basal Cell Nevus Syndrome 1 |
|
Down-sloping shoulders, Spina bifida, Palmar pits, Hydrocephalus, Irregular ossification of hand ... |
OMIM:109400 |
Endocrine-Cerebroosteodysplasia |
|
Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma... |
OMIM:612651 |
Curry-Jones Syndrome |
|
Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Preaxial hand polydactyly, Foot ... |
ORPHA:1553 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Enlargement of the ankles, Wide cranial sutures, Short stature, Osteomalacia, Irregular, rachitic... |
ORPHA:289157 |
Fanconi Anemia, Complementation Group I |
|
Ventricular septal defect, Optic nerve hypoplasia, Decreased response to growth hormone stimulati... |
OMIM:609053 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Abnormal lower motor neuron morphology, Proximal muscle weakness in upper limbs, Amyotrophic late... |
OMIM:613954 |
Tarp Syndrome |
|
Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Hypoplasia of the rad... |
OMIM:311900 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Broad distal phalanx of finger, Hypospadias, Sandal gap, Postaxial polydactyly |
OMIM:615761 |
Bardet-Biedl Syndrome 6 |
|
Syndactyly, Postaxial polydactyly |
OMIM:605231 |
20P13 Microdeletion Syndrome |
|
Finger syndactyly, Wide anterior fontanel, Polydactyly, Clinodactyly, Brachydactyly |
ORPHA:313781 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Bicuspid aortic valve, Short palm, Clinodactyly of the 5th finger, Atrioventricular canal defect,... |
ORPHA:508498 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the radius, Short ... |
OMIM:617895 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Postnatal growth retardation, Metaphyseal widening, Triangular shaped distal phalanges of the han... |
ORPHA:73230 |
Microphthalmia, Isolated 5 |
|
Microphthalmia, Cystoid macular edema |
OMIM:611040 |
Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microphthalmia |
ORPHA:2528 |
Oculofaciocardiodental Syndrome |
|
Short thumb, Patent ductus arteriosus, Broad palm, 2-3 toe syndactyly, Genu valgum, Mitral valve ... |
ORPHA:2712 |
Suleiman-El-Hattab Syndrome |
|
Single transverse palmar crease, Cryptorchidism, Polydactyly, Clinodactyly, Hydronephrosis, Brach... |
OMIM:618950 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Hydrocephalus, Dilated cardiomyopathy, Myocardial fibrosis, Holoprosencephaly, Tra... |
OMIM:253800 |
Joubert Syndrome 22 |
|
Postaxial foot polydactyly, Microphthalmia, Postaxial hand polydactyly, 2-3 toe syndactyly |
OMIM:615665 |
Joubert Syndrome 27 |
|
Polydactyly |
OMIM:617120 |
Rhombencephalosynapsis |
|
Finger syndactyly, Septo-optic dysplasia, Hydrocephalus, Polydactyly, Fusion of the left and righ... |
ORPHA:59315 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Ventricular septal defect, Postaxial polydactyly, Abnormally large globe, Hydrocephalus, Atrial s... |
OMIM:603387 |
Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short long bone, Acetabu... |
OMIM:615503 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Microphthalmia, Cryptorchidism, Ventricular septal defect, Neonatal death |
OMIM:613730 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Postaxial polydactyly, Aplastic clavicle, Micromelia, Polyhydramnios, Hydrocephalus, Preaxial pol... |
OMIM:616546 |
Acromelic Frontonasal Dysostosis |
|
Encephalocele, Syndactyly, Optic nerve hypoplasia, Cryptorchidism, Preaxial polydactyly, Preaxial... |
OMIM:603671 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Hand monodactyly, Patella... |
OMIM:609945 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105550 |
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Preaxial polydactyly |
ORPHA:2921 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Optic nerve hypoplasia, Broad proximal phalanges of the hand, Bilateral microphthalmos, Short foo... |
OMIM:607597 |
Fanconi Anemia, Complementation Group G |
|
Abnormal thumb morphology, Microphthalmia |
OMIM:614082 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Short metacarpal, Abnormal cartilage matrix, Epiphyseal stippling, Talipes equinovarus, Intrauter... |
ORPHA:86822 |
Macrodactyly |
|
Macrodactyly |
OMIM:155500 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Renal insufficiency, Abnormal acetabulum morphology, Short stature, Hypo... |
ORPHA:397715 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Syndactyly, Ventricular septal defect, Abnormality of the hand, Cryptorchidism, Bilateral microph... |
ORPHA:369891 |
Congenital Varicella Syndrome |
|
Microphthalmia, Micromelia |
ORPHA:291 |
Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Patent foramen ovale, Patent d... |
OMIM:618652 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Rocker bottom foot, Camptodactyly of finger, Adducted thumb, Flared metaphysis, Hip dislocation, ... |
OMIM:610758 |
Congenital Rubella Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Aplasia/Hypoplasia of the iris, Atrial septa... |
ORPHA:290 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Microphthalmia, Cubitus valgus, Down-sloping shoulders, Camptodactyly |
OMIM:619694 |
Primary Lateral Sclerosis |
|
Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Cervical spinal cord atrophy,... |
ORPHA:35689 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Meckel Syndrome |
|
Encephalocele, Bowing of the long bones, Anophthalmia, Situs inversus totalis, Preaxial hand poly... |
ORPHA:564 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Polyhydramnios, Cryptorchidism, Postaxial hand polydactyly, Hydrocephalus, Abnorma... |
ORPHA:2166 |
Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism, Bifid sternum |
ORPHA:63260 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia, Cryptorchidism, Hydrocephalus |
OMIM:601794 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Microphthalmia, Hydrocephalus, Optic nerve hypoplasia |
OMIM:615181 |
Retinitis Pigmentosa 89 |
|
Postaxial polydactyly |
OMIM:618955 |
Hydrolethalus Syndrome 1 |
|
Ventricular septal defect, Polyhydramnios, Preaxial hand polydactyly, Postaxial hand polydactyly,... |
OMIM:236680 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia, Partial agenesis of the corpus callosum |
OMIM:615771 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Peau d'orange, Ventricular septal defect, Postaxial polydactyly, Patent ductus arteriosus, Hydroc... |
OMIM:614576 |
Retinitis Pigmentosa 51 |
|
Polydactyly |
OMIM:613464 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Sandal gap, Ventricular septal defect, Cryptorchidism, 3-4 finger cutaneous syndactyly, Holoprose... |
OMIM:612530 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
Japanese Encephalitis |
|
Hyperintensity of MRI T2 signal of the spinal cord, Paucity of anterior horn motor neurons, Elbow... |
ORPHA:79139 |
Isolated Posterior Meningocele |
|
Tethered cord, Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Hydromyelia,... |
ORPHA:268810 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Tethered cord, Myelomeningocele, Hydrocephalus, Meningocele, Dermal sinus tract, Bi... |
OMIM:600145 |
Amyotrophic Lateral Sclerosis 21 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Hand muscle weakness, Shou... |
OMIM:606070 |
Pseudoaminopterin Syndrome |
|
Brachydactyly, Overlapping toe, Single transverse palmar crease, Limited elbow movement, Postaxia... |
ORPHA:221120 |
Fanconi Anemia |
|
Abnormal femur morphology, Triphalangeal thumb, Clinodactyly of the 5th finger, Atrial septal def... |
ORPHA:84 |
2Q31.1 Microdeletion Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Sandal gap, Abnormal morphology of ulna,... |
ORPHA:251014 |
Sandestig-Stefanova Syndrome |
|
Rocker bottom foot, Muscular ventricular septal defect, Perimembranous ventricular septal defect,... |
OMIM:618804 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Short metatarsal, Tibial bowing, Femoral bowing, S... |
OMIM:304120 |
Microphthalmia With Brain And Digit Anomalies |
|
Finger syndactyly, Anophthalmia, Proximal placement of thumb, Cryptorchidism, Postaxial foot poly... |
ORPHA:139471 |
Boucher-Neuhauser Syndrome |
|
Abnormal upper motor neuron morphology |
OMIM:215470 |
Microphthalmia, Syndromic 8 |
|
Microphthalmia, Cryptorchidism, Split foot |
OMIM:601349 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Polyhydramnios, Car... |
ORPHA:3472 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Hypospadias, Postaxial polydactyly |
ORPHA:544254 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o... |
OMIM:602433 |
Martsolf Syndrome 1 |
|
Short metacarpal, Metatarsus adductus, Slender ulna, Short toe, Osteopathia striata, Broad finger... |
OMIM:212720 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Finger syndactyly, Atrial septal defect, Overlapping toe, Single transverse palmar crease, Ventri... |
ORPHA:464738 |
Holoprosencephaly |
|
Encephalocele, Anophthalmia, Ventricular septal defect, Abnormal pulmonary valve morphology, Cryp... |
ORPHA:2162 |
Osteoporosis-Pseudoglioma Syndrome |
|
Crumpled long bones, Metaphyseal widening, Abnormal femoral neck/head morphology, Microphthalmia,... |
ORPHA:2788 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Coxa valga, Abnormality of the elbow, Flattened epiphysis, Flat acetabular roof, Hemiatrophy of u... |
ORPHA:163649 |
Baraitser-Winter Syndrome 1 |
|
Bicuspid aortic valve, Cryptorchidism, Duplication of phalanx of hallux, Patent ductus arteriosus... |
OMIM:243310 |
Tetraamelia-Multiple Malformations Syndrome |
|
Septo-optic dysplasia, Polyhydramnios, Cryptorchidism, Hydrocephalus, Aplasia/Hypoplasia involvin... |
ORPHA:3301 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
Bardet-Biedl Syndrome 12 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly |
OMIM:615989 |
Facial Clefting, Oblique, 1 |
|
Microphthalmia, Deep palmar crease |
OMIM:600251 |
Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Hydrocephalus, Hydrops fetalis, Foot polydactyly, Short palm, Micropht... |
ORPHA:268249 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Edema, Cryptorchidism, Upper limb asymmetry, Umbilical hernia, Microphthalmia |
ORPHA:2505 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Microphthalmia, Camptodactyly of finger |
ORPHA:48431 |
Meckel Syndrome, Type 1 |
|
Syndactyly, Bowing of the long bones, Occipital encephalocele, Camptodactyly of finger, Postaxial... |
OMIM:249000 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Hand muscle atrophy, Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Abnor... |
OMIM:205100 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Rhizomelia, Postaxial polydactyly, Postnatal growth retardation, Epiphyseal stippling, Abnormal p... |
OMIM:302960 |
Kapur-Toriello Syndrome |
|
Atrial septal defect, Ventricular septal defect, Single transverse palmar crease, Camptodactyly o... |
OMIM:244300 |
Cardioacrofacial Dysplasia 1 |
|
Limb undergrowth, Postaxial polydactyly, Genu valgum |
OMIM:619142 |
Temtamy Syndrome |
|
Hip dislocation, Short 2nd toe, Talipes equinovarus, Microphthalmia, Agenesis of corpus callosum,... |
OMIM:218340 |
Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia |
OMIM:278780 |
Marden-Walker Syndrome |
|
Arachnodactyly, Dextrocardia, Cryptorchidism, Radioulnar synostosis, Talipes equinovarus, Camptod... |
OMIM:248700 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Cryptorchidism, Proximal renal tubular acidosis, Postaxial polydactyly, Intrauterine growth retar... |
OMIM:615824 |
Joubert Syndrome 39 |
|
Occipital encephalocele, Polycystic kidney dysplasia, Joint contracture of the 5th finger, Postax... |
OMIM:619562 |
Vater/Vacterl Association |
|
Syndactyly, Occipital encephalocele, Hypospadias, Spina bifida, Ectopic kidney, Absent radius, Sh... |
OMIM:192350 |
Subaortic Stenosis-Short Stature Syndrome |
|
Membranous subvalvular aortic stenosis, Subvalvular aortic stenosis, Microphthalmia, Synostosis o... |
ORPHA:3191 |
3Mc Syndrome 3 |
|
Short stature, Cryptorchidism, Preaxial polydactyly, Horseshoe kidney, Micropenis, Growth delay, ... |
OMIM:248340 |
Encephalocraniocutaneous Lipomatosis |
|
Ventricular septal defect, Cryptorchidism, Hydrocephalus, Hypoplasia of the iris, Subvalvular aor... |
OMIM:613001 |
Cat-Eye Syndrome |
|
Microphthalmia, Hip dysplasia |
ORPHA:195 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowin... |
ORPHA:85167 |
Ventriculomegaly With Cystic Kidney Disease |
|
Hydrocephalus, Polyhydramnios, Ventricular septal defect, Postaxial polydactyly |
OMIM:219730 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Single transverse palmar crease, Micromelia, Delayed epiphyseal ossification, Flexion contracture... |
OMIM:210710 |
Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Knee flexion contracture, Clinodact... |
ORPHA:3103 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
Ritscher-Schinzel Syndrome 3 |
|
Hypoplasia of the ulna, Cryptorchidism, Ulnar bowing, Shortening of all distal phalanges of the f... |
OMIM:619135 |
Amyotrophic Lateral Sclerosis 16, Juvenile |
|
Amyotrophic lateral sclerosis, Weakness of the intrinsic hand muscles |
OMIM:614373 |
Orofaciodigital Syndrome I |
|
Syndactyly, Myelomeningocele, Hydrocephalus, Abnormal heart morphology, Short 2nd toe, Polydactyl... |
OMIM:311200 |
Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Microphthalmia, Hydrocephalus, Agenesis of corpus callosum, Abnormally large globe |
OMIM:615249 |
Orofaciodigital Syndrome Type 6 |
|
Syndactyly, Mesoaxial polydactyly, Short stature, Bilateral cryptorchidism, Central Y-shaped meta... |
ORPHA:2754 |
Solitary Median Maxillary Central Incisor |
|
Anophthalmia, Decreased response to growth hormone stimulation test, Holoprosencephaly, Microphth... |
OMIM:147250 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
Pallister-Hall Syndrome |
|
Gonadotropin deficiency, Holoprosencephaly, Atrial septal defect, Atrioventricular canal defect, ... |
ORPHA:672 |
Acro-Renal-Ocular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol... |
ORPHA:959 |
Cranioectodermal Dysplasia 3 |
|
Joint laxity, Rhizomelia, Sandal gap, Postaxial polydactyly, Short stature, 2-4 toe syndactyly, S... |
OMIM:614099 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Bowing of the legs, Triangular shaped distal phalanges of the hand, Abnormal calcific... |
OMIM:271665 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Optic nerve hypoplasia, Hydrocephalus, Partial agenesis of the corpus callosum, Mi... |
OMIM:614643 |
Polyglucosan Body Neuropathy, Adult Form |
|
Abnormal upper motor neuron morphology |
OMIM:263570 |
Spastic Paraplegia 9A, Autosomal Dominant |
|
Abnormal upper motor neuron morphology, Abnormal pelvic girdle bone morphology, Carpal bone hypop... |
OMIM:601162 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal lower motor neuron morphology, Abnormal cardiac septum morphology |
ORPHA:93941 |
Fanconi Anemia, Complementation Group F |
|
Decreased response to growth hormone stimulation test, Polyhydramnios, Absent thumb, Cryptorchidi... |
OMIM:603467 |
Tarp Syndrome |
|
Finger syndactyly, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Cr... |
ORPHA:2886 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Microphthalmia, Lateral ventricle dilatation, Broad hallux, Single transverse palmar crease |
OMIM:614105 |
Frontofacionasal Dysplasia |
|
Encephalocele, Microphthalmia |
ORPHA:1791 |
Iniencephaly |
|
Encephalocele, Rhizomelia, Rocker bottom foot, Spina bifida, Polyhydramnios, Myelomeningocele, Hy... |
ORPHA:63259 |
Mend Syndrome |
|
Overlapping toe, Broad hallux, Long fingers, Cryptorchidism, Hydrocephalus, 2-3 toe syndactyly, A... |
ORPHA:401973 |
Chromosome 13Q14 Deletion Syndrome |
|
Overlapping toe, Single transverse palmar crease, Ventricular septal defect, Cryptorchidism, Micr... |
OMIM:613884 |
Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Hydrocephalus, Partial agenesis of the corpus callosum, Bilateral micro... |
OMIM:610828 |
Cohen Syndrome |
|
Finger syndactyly, Arachnodactyly, Sandal gap, Ventricular septal defect, Tapered finger, Cryptor... |
ORPHA:193 |
Stromme Syndrome |
|
Optic nerve hypoplasia, Hydrocephalus, Preaxial polydactyly, Stillbirth, Microphthalmia, Agenesis... |
OMIM:243605 |
Walker-Warburg Syndrome |
|
Anophthalmia, Cryptorchidism, Hydrocephalus, Metatarsus valgus, Microphthalmia, Agenesis of corpu... |
ORPHA:899 |
Fanconi Anemia, Complementation Group D2 |
|
Absent thumb, Absent radius, Preaxial hand polydactyly, Short thumb, Partial duplication of thumb... |
OMIM:227646 |
Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia |
OMIM:120433 |
Joubert Syndrome 2 |
|
Encephalocele, Postaxial hand polydactyly, Hydrocephalus, Postaxial foot polydactyly, Microphthalmia |
OMIM:608091 |
Heart And Brain Malformation Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Hand clenching, Microphthalmia |
OMIM:616920 |
Stevenson-Carey Syndrome |
|
Hip dysplasia, Camptodactyly, Atrial septal defect, Microphthalmia, Joint contracture of the hand |
OMIM:611961 |
Kinsship Syndrome |
|
Osteopenia, Short stature, Single transverse palmar crease, Coxa valga, Hip dislocation, Renal hy... |
OMIM:619297 |
Microphthalmia, Syndromic 13 |
|
Microphthalmia |
OMIM:300915 |
Ring Chromosome 10 Syndrome |
|
Microphthalmia, Sandal gap, Tapered finger |
ORPHA:1438 |
Moderate Hemophilia A |
|
Arthropathy, Hip contracture, Cartilage destruction, Limitation of joint mobility, Synovitis, Hem... |
ORPHA:169805 |
Fanconi Anemia, Complementation Group J |
|
Microphthalmia, Short thumb |
OMIM:609054 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Hydrocephalus, Buphthalmos, Microphthalmia, Agenesis of corpus callosum |
OMIM:613150 |
Focal Dermal Hypoplasia |
|
Congenital hip dislocation, Anophthalmia, Osteopathia striata, Short metatarsal, Foot oligodactyl... |
OMIM:305600 |
Amyotrophic Lateral Sclerosis 23 |
|
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis |
OMIM:617839 |
Holoprosencephaly 9 |
|
Anophthalmia, Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Ante... |
OMIM:610829 |
Bartsocas-Papas Syndrome 2 |
|
Microphthalmia, 2-5 finger cutaneous syndactyly, Absent distal phalanges, Small hand |
OMIM:619339 |
Rubinstein-Taybi Syndrome 1 |
|
Single transverse palmar crease, Polyhydramnios, Bilateral cryptorchidism, Hypoplastic iliac wing... |
OMIM:180849 |
Rere-Related Neurodevelopmental Syndrome |
|
Ventricular septal defect, Cryptorchidism, Abnormal heart morphology, Hip dysplasia, Microphthalmia |
ORPHA:494344 |
Microphthalmia, Syndromic 11 |
|
Microphthalmia, Agenesis of pineal gland, Agenesis of corpus callosum |
OMIM:614402 |
Braddock-Carey Syndrome 2 |
|
Microphthalmia, Clinodactyly |
OMIM:619981 |
Chromosome 17Q12 Duplication Syndrome |
|
Atrial septal defect, Microphthalmia, Broad thumb, Brachydactyly |
OMIM:614526 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Camptodactyly of finger, Finger clinodactyly, Pectoral muscle hypoplasia/aplasia, Cranium bifidum... |
ORPHA:306542 |
Steinfeld Syndrome |
|
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Abnormal heart... |
OMIM:184705 |
Frontonasal Dysplasia 2 |
|
Bilateral cryptorchidism, Microphthalmia, Encephalocele, Oligohydramnios |
OMIM:613451 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
Baraitser-Winter Syndrome 2 |
|
Microphthalmia, Agenesis of corpus callosum |
OMIM:614583 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Postaxial polydactyly, Wide anterior fontanel, Preaxial polydactyly, Hypoplastic pubic bone, Fibu... |
OMIM:617925 |
Mend Syndrome |
|
Overlapping toe, Broad hallux, Short stature, Long fingers, Cryptorchidism, Hydrocephalus, 2-3 to... |
OMIM:300960 |
Cat Eye Syndrome |
|
Ventricular septal defect, Absent radius, Patent ductus arteriosus, Hypoplastic left heart, Total... |
OMIM:115470 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Absent radius, Aplasia of the 1st metaca... |
ORPHA:1352 |
Adnp Syndrome |
|
Joint laxity, Broad hallux, Single transverse palmar crease, Sandal gap, Short stature, Abnormal ... |
ORPHA:404448 |
Monosomy 9Q22.3 |
|
Palmar pits, Hydrocephalus, Cardiac fibroma, Polydactyly, Microphthalmia, Umbilical hernia |
ORPHA:77301 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia, Hypertrophic cardiomyopathy, Single transverse palmar crease, Oligohydramnios |
OMIM:619053 |
Microgastria-Limb Reduction Defect Syndrome |
|
Abnormal morphology of the radius, Atrial septal defect, Anophthalmia, Aplastic clavicle, Abnorma... |
ORPHA:2538 |
Congenital Fibrinogen Deficiency |
|
Clubbing of fingers, Left ventricular hypertrophy, Microphthalmia, Decreased testicular size, Rig... |
ORPHA:335 |
Adams-Oliver Syndrome 1 |
|
Encephalocele, Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Hypoplastic left... |
OMIM:100300 |
Refsum Disease |
|
Short metacarpal, Cardiomyopathy, Hammertoe, Abnormal epiphysis morphology, Microphthalmia |
ORPHA:773 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Overriding aorta, Abnormality of the hum... |
ORPHA:3186 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Septo-optic dysplasia, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Optic nerve... |
ORPHA:95494 |
Miller-Dieker Lissencephaly Syndrome |
|
Single transverse palmar crease, Cryptorchidism, Deep palmar crease, Polydactyly, Pelvic kidney, ... |
OMIM:247200 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Motor neuron atrophy, Spinocerebellar tract degeneration, Abnormal neuron morphology |
ORPHA:412066 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hallux valgus, Toe syndactyly, Arachnodactyly, Short stature, Multiple joint contractures, Hyposp... |
ORPHA:464306 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Microphthalmia, Lymphedema |
OMIM:152950 |
Ane Syndrome |
|
Ulnar deviation of the hand, Anterior pituitary hypoplasia, Decreased response to growth hormone ... |
ORPHA:157954 |
Au-Kline Syndrome |
|
Prominent metopic ridge, Overlapping toe, Postaxial polydactyly, Coxa valga, Sagittal craniosynos... |
OMIM:616580 |
Amyotrophic Lateral Sclerosis 19 |
|
Amyotrophic lateral sclerosis |
OMIM:615515 |
Aicardi Syndrome |
|
Spina bifida, Proximal placement of thumb, Partial agenesis of the corpus callosum, Lateral ventr... |
OMIM:304050 |
Microphthalmia-Brain Atrophy Syndrome |
|
Lateral ventricle dilatation, Bilateral microphthalmos |
ORPHA:77299 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Short stature, Postaxial polydactyly, Postaxial hand polydactyly, Aplasia of the epiglottis, Hors... |
OMIM:617088 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Microphthalmia |
OMIM:251270 |
Jacobsen Syndrome |
|
Atrial septal defect, Ventricular septal defect, Cryptorchidism, Hydrocephalus, Macular hypoplasi... |
OMIM:147791 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Decreased response to growth hormone stimulation test, Cryptorchidism, Small hand, Short foot, Sh... |
OMIM:241410 |
Amyotrophic Lateral Sclerosis 1 |
|
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis |
OMIM:105400 |
Developmental And Epileptic Encephalopathy 1 |
|
Microphthalmia |
OMIM:308350 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Microphthalmia, Camptodactyly of finger, Rocker bottom foot |
OMIM:610756 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Joint laxity, Short stature, Postaxial polydactyly, Tapered finger, Small hand, Hip dislocation, ... |
OMIM:300968 |
Cerebrooculonasal Syndrome |
|
Encephalocele, Postaxial polydactyly, Craniosynostosis, Postnatal growth retardation, Postaxial h... |
OMIM:605627 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Microphthalmia |
ORPHA:1473 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Ventricular septal defect, Single transverse palmar crease, 2-3 toe syndactyly, Atrial septal def... |
OMIM:616449 |
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:616208 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microphthalmia, Dilated cardiomyopathy |
OMIM:618805 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Ectopic posterior pituitary, Congenital hip dislocation, Single transverse palmar... |
ORPHA:508488 |
22Q11.2 Deletion Syndrome |
|
Atrial septal defect, Arachnodactyly, Ventricular septal defect, Spina bifida, Abnormal pulmonary... |
ORPHA:567 |
Spondylo-Ocular Syndrome |
|
Microphthalmia, Aplasia/Hypoplasia of the lens, Ventricular septal defect |
ORPHA:85194 |
Culler-Jones Syndrome |
|
Cryptorchidism, Micropenis, Short stature, Postaxial polydactyly |
OMIM:615849 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Optic nerve hypoplasia, Meningoencephalocele, Cryptorchidism, Hydrocepha... |
OMIM:236670 |
Fanconi Anemia, Complementation Group S |
|
Microphthalmia, Clinodactyly, Proximal placement of thumb |
OMIM:617883 |
Senior-Loken Syndrome 8 |
|
Global glomerulosclerosis, Polydactyly, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:616307 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microphthalmia, Dysplastic corpus callosum, Agenesis of corpus callosum, Optic nerve hypoplasia |
OMIM:614833 |
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:205200 |
Amyotrophic Lateral Sclerosis 11 |
|
Amyotrophic lateral sclerosis |
OMIM:612577 |
Fryns Syndrome |
|
Polyhydramnios, Cryptorchidism, Abnormal cardiac septum morphology, Clinodactyly of the 5th finge... |
ORPHA:2059 |
Seckel Syndrome 2 |
|
Clinodactyly of the 5th finger, Microphthalmia |
OMIM:606744 |
Microphthalmia, Syndromic 2 |
|
Anophthalmia, 2-3 toe cutaneous syndactyly, Atrial septal defect, Contracture of the proximal int... |
OMIM:300166 |
Amyotrophic Lateral Sclerosis 9 |
|
Amyotrophic lateral sclerosis |
OMIM:611895 |
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies |
|
Amyotrophic lateral sclerosis |
OMIM:205250 |
Myoclonic-Astatic Epilepsy |
|
Microphthalmia, Syndactyly |
ORPHA:1942 |
Machado-Joseph Disease Type 3 |
|
Abnormal lower motor neuron morphology, Degeneration of anterior horn cells, Spinocerebellar trac... |
ORPHA:276244 |
Incontinentia Pigmenti |
|
Finger syndactyly, Camptodactyly of finger, Abnormal hand morphology, Absent hand, Deviation of f... |
ORPHA:464 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5 |
|
Amyotrophic lateral sclerosis |
OMIM:619141 |
Alkaptonuria |
|
Joint dislocation, Joint stiffness, Cartilage destruction, Osteoarthritis, Nephrolithiasis, Reduc... |
ORPHA:56 |
Choanal Atresia |
|
Tracheomalacia, Polydactyly, Craniosynostosis |
ORPHA:137914 |
Fryns Syndrome |
|
Atrial septal defect, Ventricular septal defect, Single transverse palmar crease, Proximal placem... |
OMIM:229850 |
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:608030 |
Teebi-Shaltout Syndrome |
|
Syndactyly, Ulnar deviation of the hand, Ventricular septal defect, Single transverse palmar crea... |
OMIM:272950 |
Hallermann-Streiff Syndrome |
|
Spina bifida, Abnormality of the hand, Cryptorchidism, Metaphyseal widening, Slender long bone, M... |
OMIM:234100 |
Bardet-Biedl Syndrome 1 |
|
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Short ... |
OMIM:209900 |
3Q29 Microduplication Syndrome |
|
Toe syndactyly, Sandal gap, Ventricular septal defect, Aniridia, Camptodactyly of toe, Microphtha... |
ORPHA:251038 |
Roberts-Sc Phocomelia Syndrome |
|
Polyhydramnios, Tetraphocomelia, Atrial septal defect, Phocomelia, Wrist flexion contracture, Syn... |
OMIM:268300 |
Orofaciodigital Syndrome V |
|
Unilateral cryptorchidism, Sandal gap, Postaxial polydactyly, Postaxial hand polydactyly, Horsesh... |
OMIM:174300 |
Mosaic Variegated Aneuploidy Syndrome |
|
Atrial septal defect, Polyhydramnios, Increased nuchal translucency, Abnormality of the upper lim... |
ORPHA:1052 |
Kapur-Toriello Syndrome |
|
Ventricular septal defect, Dysplastic corpus callosum, Patent ductus arteriosus, Microphthalmia, ... |
ORPHA:2328 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bilateral microphthalmos, Bicuspid aortic valve, Unilateral microphthalmos |
OMIM:619318 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Clinodactyly of the 5th finger, Microphthalmia |
OMIM:167730 |
Amyotrophic Lateral Sclerosis, Susceptibility To, 24 |
|
Amyotrophic lateral sclerosis |
OMIM:617892 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Broad long bones, Fifth finger distal phalanx clinodactyly, 4-5 finger syndactyly, 3-4 finger cut... |
OMIM:257850 |
Myhre Syndrome |
|
Atrial septal defect, Overlapping toe, Ventricular septal defect, Pericardial effusion, Cryptorch... |
OMIM:139210 |
Premature Aging Syndrome, Penttinen Type |
|
Brachydactyly, Palmoplantar hyperkeratosis, Tibial bowing, Short foot, Slender long bone, Corneal... |
OMIM:601812 |
Nance-Horan Syndrome |
|
Microphthalmia, Short metacarpal |
ORPHA:627 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Single transverse palmar crease, Hydrocephalus, Colp... |
OMIM:309801 |
Amyotrophic Lateral Sclerosis 18 |
|
Amyotrophic lateral sclerosis |
OMIM:614808 |
Bardet-Biedl Syndrome 20 |
|
Proteinuria, Postaxial polydactyly, Bilateral cryptorchidism, Postaxial hand polydactyly, 2-3 toe... |
OMIM:619471 |
Amyotrophic Lateral Sclerosis, Susceptibility To, 25 |
|
Amyotrophic lateral sclerosis |
OMIM:617921 |
Lymphedema-Distichiasis Syndrome |
|
Ventricular septal defect, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphe... |
OMIM:153400 |
Charge Syndrome |
|
Anophthalmia, Abnormal palmar dermatoglyphics, Polyhydramnios, Decreased response to growth hormo... |
OMIM:214800 |
Cranioectodermal Dysplasia 2 |
|
Joint laxity, Syndactyly, Renal insufficiency, Rhizomelia, Short stature, Craniosynostosis, Posta... |
OMIM:613610 |
Galloway-Mowat Syndrome 3 |
|
Arachnodactyly, Edema, Hip dislocation, Camptodactyly, Microphthalmia, Oligohydramnios |
OMIM:617729 |
Retinitis Pigmentosa 74 |
|
Polydactyly |
OMIM:616562 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microphthalmia, Overlapping toe, Abnormal heart morphology |
OMIM:618571 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:613435 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Brachydactyly, Sandal gap, Broad hallux, Microphthalmia, Clinodactyly, 3-4 toe syndactyly |
OMIM:618727 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Single transverse palmar crease, 2-3 toe syndactyly, Joint contracture of the 5th finger, Promine... |
OMIM:620098 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Short humerus, Short femur, Abnormal mitochondrial shape, Hypospadias, Flexion contracture, Methy... |
ORPHA:17 |
Amyotrophic Lateral Sclerosis 20 |
|
Amyotrophic lateral sclerosis |
OMIM:615426 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia |
ORPHA:1135 |
Familial Exudative Vitreoretinopathy |
|
Microphthalmia, Macular edema, Lymphedema |
ORPHA:891 |
Microphthalmia, Lenz Type |
|
Finger syndactyly, Camptodactyly of finger, Cryptorchidism, Abnormal shoulder morphology, Clinoda... |
ORPHA:568 |
Fanconi Anemia, Complementation Group E |
|
Absent thumb, Absent radius, Short thumb, Cryptorchidism, Abnormal heart morphology, Microphthalm... |
OMIM:600901 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Prominent metopic ridge, Broad hallux, Postaxial polydactyly, Unilateral renal agenesis, Hydrocep... |
ORPHA:457284 |
Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Short stature, Postaxial polydactyly, Delayed closure of the anterior fonta... |
OMIM:618460 |
Warburg Micro Syndrome 2 |
|
Overlapping toe, Cryptorchidism, Microphthalmia, Clinodactyly of the 4th toe, Clinodactyly of the... |
OMIM:614225 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Anterior pituitary hypoplasia, Edema, Polyhydramnios, Aqueductal stenosis, Secundum atrial septal... |
OMIM:619534 |
Helsmoortel-Van Der Aa Syndrome |
|
Atrial septal defect, Broad hallux, Sandal gap, Decreased response to growth hormone stimulation ... |
OMIM:615873 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:300857 |
Carpenter Syndrome 2 |
|
Single transverse palmar crease, Bilateral cryptorchidism, Preaxial polydactyly, Coxa vara, Cutan... |
OMIM:614976 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Osteopenia, Joint laxity, Prominent metopic ridge, Postaxial polydactyly, Sagittal craniosynostos... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Osteopenia, Joint laxity, Prominent metopic ridge, Postaxial polydactyly, Sagittal craniosynostos... |
ORPHA:352665 |
Ulbright-Hodes Syndrome |
|
Phocomelia, Abnormal penis morphology, Short metacarpal, Cryptorchidism, Humeroradial synostosis,... |
ORPHA:3404 |
Warburg Micro Syndrome 3 |
|
Clinodactyly of the 5th finger, Microphthalmia, Decreased testicular size |
OMIM:614222 |
Fanconi Anemia, Complementation Group A |
|
Absent thumb, Absent radius, Short thumb, Cryptorchidism, Abnormal heart morphology, Microphthalm... |
OMIM:227650 |
Charge Syndrome |
|
Anophthalmia, Polyhydramnios, Aqueductal stenosis, Cryptorchidism, Abnormal tibia morphology, Pat... |
ORPHA:138 |
Loeys-Dietz Syndrome 2 |
|
Syndactyly, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Bicuspid aortic valve, Hy... |
OMIM:610168 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Microphthalmia, Hydrocephalus |
OMIM:616538 |
Adult-Onset Still Disease |
|
Cartilage destruction, Arthritis, Joint swelling |
ORPHA:829 |
Amyotrophic Lateral Sclerosis |
|
Motor neuron atrophy, Amyotrophic lateral sclerosis, Xerostomia |
ORPHA:803 |
Histiocytoid Cardiomyopathy |
|
Ventricular septal defect, Cardiomegaly, Hydrocephalus, Microphthalmia, Agenesis of corpus callos... |
ORPHA:137675 |
Ohdo Syndrome, X-Linked |
|
Ulnar deviation of the hand, Overlapping toe, Short thumb, Cryptorchidism, Hip dysplasia, Microph... |
OMIM:300895 |
Galloway-Mowat Syndrome 1 |
|
Hypoplasia of the iris, Talipes equinovarus, Camptodactyly, Hand clenching, Microphthalmia, Joint... |
OMIM:251300 |
3Q29 Microdeletion Syndrome |
|
Tapered finger, Patent ductus arteriosus, Subvalvular aortic stenosis, Clinodactyly of the 5th fi... |
ORPHA:65286 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Bicuspid aortic valve, Polyhydramnios, Cervical cord compression, Atrial septal defect, Patent fo... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Bicuspid aortic valve, Polyhydramnios, Cervical cord compression, Atrial septal defect, Patent fo... |
ORPHA:353277 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Anterior pi... |
OMIM:206900 |
Fontaine Progeroid Syndrome |
|
Syndactyly, Atrial septal defect, Bicuspid aortic valve, Cryptorchidism, Hydrocephalus, Patent du... |
OMIM:612289 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Prominent metopic ridge, Polydactyly |
ORPHA:314655 |
Bartsocas-Papas Syndrome 1 |
|
Syndactyly, Short metacarpal, Hypoplastic scapulae, Absent thumb, Absent radius, Short thumb, Uln... |
OMIM:263650 |
8Q21.11 Microdeletion Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Cryptorchidism, Abnormal metacarpal morphology, Micro... |
ORPHA:284160 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Neonatal epiphyseal stippling, Hip dislocation, Upper limb asymmetry, Epiphyseal stippling, Talip... |
ORPHA:35173 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia, Cryptorchidism |
ORPHA:363741 |
Monosomy 13Q14 |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Holoprosencephaly, Clinodactyly of the 5th fi... |
ORPHA:1587 |
Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia |
ORPHA:83461 |
Microphthalmia, Syndromic 9 |
|
Anophthalmia, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Bilateral micr... |
OMIM:601186 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Microphthalmia, Partial agenesis of the corpus callosum, Ventricular septal defect |
OMIM:234050 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Syndactyly, Short metacarpal, Cryptorchidism, Camptodactyly, Microphthalmia, Absent palmar crease |
OMIM:614230 |
Rabson-Mendenhall Syndrome |
|
Short stature, Long penis, Nephrocalcinosis, Severe postnatal growth retardation, Polydactyly, In... |
ORPHA:769 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Polyhydramnios, Narrow greater sciatic notch, Short palm, Atrial septal defect, Agenesis of corpu... |
OMIM:312870 |
Okamoto Syndrome |
|
Tethered cord, Ventricular septal defect, Abnormally large globe, Abnormal left ventricle morphol... |
ORPHA:2729 |
Oculoauricular Syndrome |
|
Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia, Spina bifida occulta |
OMIM:612109 |
Witteveen-Kolk Syndrome |
|
Branchial fistula, Toe syndactyly, Overlapping toe, Arachnodactyly, Proximal placement of thumb, ... |
OMIM:613406 |
Faciocardiomelic Syndrome |
|
Osteopenia, Slender long bone, Polydactyly, Hypoplastic pelvis, Thin bony cortex |
OMIM:612731 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Microphthalmia, Cryptorchidism, Atrial septal defect, Abnormal palmar dermatoglyphics |
ORPHA:2728 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Rocker bottom foot, Single transverse palmar crease, Postaxial polydactyly, Edema, Long fingers, ... |
OMIM:617527 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Broad hallux, Single transverse palmar crease, Polyhydramnios, Hydrocele testis, ... |
OMIM:620186 |
Orofaciodigital Syndrome Xiv |
|
Occipital encephalocele, Broad hallux, Cryptorchidism, Postaxial hand polydactyly, Epispadias, Pr... |
OMIM:615948 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Hallux valgus, Ventricular septal defect, Abnormal pulmonary valve morphology, Decreased response... |
ORPHA:268261 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Microphthalmia |
OMIM:612379 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Brachydactyly, Aplasia of the distal phalanx of the 5th toe, Aplasia of the distal phalanx of the... |
ORPHA:364577 |
Oculodentodigital Dysplasia |
|
Atrial septal defect, 4-5 finger syndactyly, Hip dislocation, Joint contracture of the 5th finger... |
OMIM:164200 |
Fanconi Anemia, Complementation Group C |
|
Ventricular septal defect, Absent thumb, Absent radius, Short thumb, Cryptorchidism, Microphthalm... |
OMIM:227645 |
Warburg Micro Syndrome 4 |
|
Microphthalmia, Cryptorchidism, Decreased testicular size |
OMIM:615663 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Clinodactyly of the 5th finger, Microphthalmia, Bilateral microphthalmos |
ORPHA:2399 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Clinodactyly of the 5th finger, Microphthalmia |
OMIM:617306 |
Microphthalmia, Syndromic 5 |
|
Ectopic posterior pituitary, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Microphthalmia |
OMIM:610125 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Dilated cardiomyopathy, Lateral ventricle dilatation, Histiocytoid cardiomyopathy, Microphthalmia... |
OMIM:300952 |
Nance-Horan Syndrome |
|
Microphthalmia, Short phalanx of finger, Broad finger |
OMIM:302350 |
Fraser Syndrome 1 |
|
Encephalocele, Aplasia/Hypoplasia of the thumb, Anophthalmia, Cryptorchidism, Myelomeningocele, A... |
OMIM:219000 |
Frontonasal Dysplasia 3 |
|
Microphthalmia |
OMIM:613456 |
Trichothiodystrophy 3, Photosensitive |
|
Bilateral cryptorchidism, Microphthalmia |
OMIM:616395 |
Degcags Syndrome |
|
Syndactyly, Toe syndactyly, Ventricular septal defect, Polyhydramnios, Short thumb, Preaxial hand... |
OMIM:619488 |
Treacher-Collins Syndrome |
|
Encephalocele, Branchial fistula, Cryptorchidism, Patent ductus arteriosus, Microphthalmia |
ORPHA:861 |
Fetal Alcohol Syndrome |
|
Atrial septal defect, Microphthalmia |
ORPHA:1915 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Ventricular septal defect, Aplasia of the distal phalanx of the 5th toe, Ventricular septal hyper... |
OMIM:608670 |
Atelis Syndrome 2 |
|
Single transverse palmar crease, Patent ductus arteriosus, Supravalvar pulmonary stenosis, Pulmon... |
OMIM:620185 |
Fanconi Anemia, Complementation Group L |
|
Absent thumb, Absent radius, Hydrocephalus, Bilateral talipes equinovarus, Microphthalmia |
OMIM:614083 |
Townes-Brocks Syndrome |
|
Broad hallux phalanx, Atrial septal defect, Toe syndactyly, Abnormal pulmonary valve morphology, ... |
ORPHA:857 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Macroorchidism, Mitral valve prolapse, Unilateral microphthalmos, Adducted thumb |
OMIM:618874 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Microphthalmia, Agenesis of corpus callosum, Optic nerve hypoplasia |
OMIM:617914 |
Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
Encephalocraniocutaneous Lipomatosis |
|
Craniofacial hyperostosis, Abnormal cartilage morphology, Bone cyst, Osteolysis, Osteochondrosis |
ORPHA:2396 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Atrial septal defect, Brachydactyly, Mesoaxial foot polydactyly, Overlapping toe, Broad hallux, S... |
OMIM:612474 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia |
OMIM:604229 |
Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
2-5 finger syndactyly, Camptodactyly of finger, Optic nerve hypoplasia, Cryptorchidism, 4-5 finge... |
ORPHA:468631 |
Trichothiodystrophy |
|
Ventricular septal defect, Cryptorchidism, Partial agenesis of the corpus callosum, Bilateral mic... |
ORPHA:33364 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Abnormal lower motor neuron morphology, Scapular winging |
OMIM:614298 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Hallux valgus, Osteopenia, Hyperextensible thumb, Congenital hip dislocation, Overlapping toe, Sh... |
ORPHA:480880 |
Rothmund-Thomson Syndrome, Type 2 |
|
Congenital hip dislocation, Short thumb, Cryptorchidism, Small hand, Short foot, Talipes equinova... |
OMIM:268400 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Preaxial polydactyly, Abnormal neuron morphology |
ORPHA:163681 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Microphthalmia, Long fingers |
OMIM:156610 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Camptodactyly of finger, Tapered finger, Microphthalmia, Broad thumb, Bilateral single transverse... |
ORPHA:1236 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Anophthalmia, Hydrocephalus, Dilated cardiomyopathy, Mitral valve prolapse, Abnormal cardiac sept... |
ORPHA:2556 |
Fraser Syndrome |
|
Encephalocele, Finger syndactyly, Toe syndactyly, Anophthalmia, Cryptorchidism, Myelomeningocele,... |
ORPHA:2052 |
Legius Syndrome |
|
Short stature, Nephrolithiasis, Diaphyseal dysplasia, Polydactyly, Male urethral meatus stenosis,... |
ORPHA:137605 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Anophthalmia, Rhizomelia, 2-3 toe syndactyly, Microphthalmia, 3-4 finger syndactyly |
OMIM:615877 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Syndactyly, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hip dysplasia, C... |
OMIM:616975 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Tapered finger, Cryptorchidism, Patent ductus arteriosus, Small hand, Hip dysplasia, Atrial septa... |
OMIM:620005 |
Otodental Syndrome |
|
Microphthalmia, Lens coloboma |
ORPHA:2791 |
Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
Progressive Non-Fluent Aphasia |
|
Abnormal lower motor neuron morphology |
ORPHA:100070 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Anophthalmia, Edema, Lymphedema, Chylothorax, Atrial septal defect, Microphthalmia, Pleural effusion |
ORPHA:2526 |
Cockayne Syndrome B |
|
Cryptorchidism, Ivory epiphyses of the phalanges of the hand, Hypoplasia of the iris, Square pelv... |
OMIM:133540 |
Oculocerebrorenal Syndrome Of Lowe |
|
Cryptorchidism, Hip dislocation, Dehydration, Genu valgum, Buphthalmos, Azoospermia, Joint swelli... |
ORPHA:534 |
Momo Syndrome |
|
Bilateral microphthalmos, Femoral bowing, Large hands, Short sternum, Congenital pseudoarthrosis ... |
ORPHA:2563 |
Monosomy 9P |
|
Proximal placement of thumb, Abnormality of the tarsal bones, Cryptorchidism, Postaxial hand poly... |
ORPHA:261112 |
Papillorenal Syndrome |
|
Microphthalmia, Edema |
OMIM:120330 |
Micro Syndrome |
|
Microphthalmia, Cryptorchidism |
ORPHA:2510 |
Neurocardiofaciodigital Syndrome |
|
Syndactyly, Patent ductus arteriosus, Lateral ventricle dilatation, Double inlet left ventricle, ... |
OMIM:619869 |
Holoprosencephaly 2 |
|
Alobar holoprosencephaly, Single ventricle, Holoprosencephaly, Microphthalmia, Agenesis of corpus... |
OMIM:157170 |
Microphthalmia, Syndromic 6 |
|
Finger syndactyly, Thumb contracture, Toe syndactyly, Single transverse palmar crease, Abnormalit... |
OMIM:607932 |
Dubowitz Syndrome |
|
Syndactyly, Single transverse palmar crease, Cryptorchidism, Hypoplasia of the iris, Clinodactyly... |
OMIM:223370 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... |
ORPHA:2334 |
Neuroocular Syndrome |
|
Hypoplasia of the fovea, Hyperextensibility of the finger joints, Scapular winging, Tapered finge... |
OMIM:619539 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Microphthalmia |
OMIM:305390 |
Frontofacionasal Dysplasia |
|
Cranium bifidum occultum, Microphthalmia |
OMIM:229400 |
Holoprosencephaly 1 |
|
Alobar holoprosencephaly, Microphthalmia, Ethmocephaly, Agenesis of corpus callosum, Single ventr... |
OMIM:236100 |
Matthew-Wood Syndrome |
|
Microphthalmia, Cryptorchidism, Anophthalmia |
ORPHA:2470 |
Reactive Arthritis |
|
Osteomyelitis, Joint stiffness, Cartilage destruction, Enthesitis, Arthritis, Joint swelling |
ORPHA:29207 |
Fraser Syndrome 2 |
|
Microphthalmia, Oligohydramnios, Cutaneous syndactyly |
OMIM:617666 |
Vitreoretinochoroidopathy |
|
Microphthalmia |
OMIM:193220 |
Acrofrontofacionasal Dysostosis 1 |
|
Short metacarpal, Microphthalmia, Acetabular dysplasia, Broad thumb, Short distal phalanx of finger |
OMIM:201180 |
Rodrigues Blindness |
|
Microphthalmia |
OMIM:268320 |
Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Microphthalmia |
OMIM:212550 |
Pierson Syndrome |
|
Rieger anomaly, Hypoplasia of the ciliary body, Edema, Hypoplasia of the iris, Macular hypoplasia... |
OMIM:609049 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Tapered finger, Long fingers, Cryptorchidism, 2-3 toe syndactyly, Short palm, Clinodactyly of the... |
OMIM:616734 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia |
OMIM:269400 |
Anterior Segment Dysgenesis 2 |
|
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia |
OMIM:610256 |
Renpenning Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect, Situs inversus totalis, Tetralogy of Fallot, Cam... |
OMIM:309500 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
Hallermann-Streiff Syndrome |
|
Cryptorchidism, Small hand, Short foot, Clinodactyly of the 5th finger, Microphthalmia |
ORPHA:2108 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Anophthalmia, Ventricular septal defect, Partial duplication of thumb ph... |
OMIM:164210 |
Osteopetrosis, Autosomal Recessive 8 |
|
Unilateral microphthalmos |
OMIM:615085 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Microphthalmia |
OMIM:615145 |
Phace Syndrome |
|
Optic nerve hypoplasia, Lens coloboma, Abnormal heart morphology, Abnormal cardiac septum morphol... |
ORPHA:42775 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
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Broad hallux, Arachnodactyly, Cubitus valgus, Short finger, Microphthalmia |
OMIM:601552 |
Phace Association |
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Microphthalmia, Patent ductus arteriosus, Ventricular septal defect, Optic nerve hypoplasia |
OMIM:606519 |
Trichothiodystrophy 1, Photosensitive |
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Microphthalmia |
OMIM:601675 |
Lacrimoauriculodentodigital Syndrome 1 |
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Hypoplasia of the ulna, Broad hallux, Absent radius, Short thumb, Partial duplication of thumb ph... |
OMIM:149730 |
Ectodermal Dysplasia-Blindness Syndrome |
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Microphthalmia |
ORPHA:1806 |
Proboscis Lateralis |
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Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Patent ductus arteriosus, Holopr... |
ORPHA:141099 |
Mullegama-Klein-Martinez Syndrome |
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Clinodactyly of the 5th finger, Polydactyly, Short stature |
OMIM:301022 |
Aicardi Syndrome |
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Microphthalmia, Hip dysplasia, Partial agenesis of the corpus callosum, Small hand |
ORPHA:50 |
Oculo-Palato-Cerebral Syndrome |
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Short foot, Microphthalmia, Small hand |
ORPHA:2714 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
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Microphthalmia |
ORPHA:231736 |
Branchiooculofacial Syndrome |
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Anophthalmia, Single transverse palmar crease, Proximal placement of thumb, Short thumb, Preaxial... |
OMIM:113620 |
Osteoporosis-Pseudoglioma Syndrome |
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Ventricular septal defect, Metaphyseal widening, Phthisis bulbi, Tibial bowing, Microphthalmia |
OMIM:259770 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
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Microphthalmia, Increased circulating gonadotropin level |
OMIM:110100 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8 |
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Amyotrophic lateral sclerosis |
OMIM:619132 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Bicuspid aortic valve, Calcaneovalgus deformity, Agenesis of corpus callosum, Long hallux, Long t... |
ORPHA:261537 |
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia |
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Amyotrophic lateral sclerosis |
OMIM:619133 |
Tetraamelia Syndrome 1 |
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Microphthalmia, Hydrocephalus, Hypoplastic pelvis |
OMIM:273395 |
Coloboma, Ocular, Autosomal Dominant |
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Microphthalmia, Optic nerve aplasia |
OMIM:120200 |
Oculotrichoanal Syndrome |
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Microphthalmia, Anophthalmia |
ORPHA:2717 |
Idiopathic Camptocormia |
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Amyotrophic lateral sclerosis, Syringomyelia, Myelitis |
ORPHA:1320 |
Norrie Disease |
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Hypoplasia of the iris, Microphthalmia, Buphthalmos |
OMIM:310600 |
Kenny-Caffey Syndrome, Type 2 |
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Microphthalmia, Thickened cortex of long bones, Abnormality of the medullary cavity of the long b... |
OMIM:127000 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
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Buphthalmos, Microphthalmia, Hydrocephalus, Hypoplasia of the retina |
OMIM:253280 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
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Microphthalmia |
OMIM:123570 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Bicuspid aortic valve, Calcaneovalgus deformity, Agenesis of corpus callosum, Long hallux, Long t... |
ORPHA:261552 |
Persistent Hyperplastic Primary Vitreous |
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Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia |
ORPHA:91495 |
Manitoba Oculotrichoanal Syndrome |
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Microphthalmia, Anophthalmia |
OMIM:248450 |
Lowe Oculocerebrorenal Syndrome |
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Camptodactyly of finger, Wrist swelling, Cryptorchidism, Hip dislocation, Genu valgum, Finger swe... |
OMIM:309000 |
Xeroderma Pigmentosum, Complementation Group B |
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Microphthalmia |
OMIM:610651 |
Xeroderma Pigmentosum, Complementation Group D |
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Microphthalmia |
OMIM:278730 |
Mowat-Wilson Syndrome |
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Bicuspid aortic valve, Calcaneovalgus deformity, Agenesis of corpus callosum, Long toe, Syndactyl... |
ORPHA:2152 |
Incontinentia Pigmenti |
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Hypoplasia of the fovea, Microphthalmia |
OMIM:308300 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
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Microphthalmia, Cryptorchidism, Anophthalmia |
ORPHA:2250 |
Cockayne Syndrome Type 3 |
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Microphthalmia, Cardiomyopathy |
ORPHA:90324 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
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Buphthalmos, Microphthalmia, Phthisis bulbi |
OMIM:221900 |
Autosomal Dominant Kenny-Caffey Syndrome |
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Stenosis of the medullary cavity of the long bones, Thin long bone diaphyses, Bilateral microphth... |
ORPHA:93325 |
Oculopalatocerebral Syndrome |
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Microphthalmia |
OMIM:257910 |
Cockayne Syndrome |
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Microphthalmia, Cryptorchidism, Abnormal epiphysis morphology |
ORPHA:191 |
Mowat-Wilson Syndrome |
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Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Abnormal heart morphology, P... |
OMIM:235730 |
Microphthalmia, Syndromic 1 |
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Syndactyly, Anophthalmia, Bicuspid aortic valve, Abnormal palmar dermatoglyphics, Down-sloping sh... |
OMIM:309800 |
Linear Nevus Sebaceus Syndrome |
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Microphthalmia |
ORPHA:2612 |
Bosma Arhinia Microphthalmia Syndrome |
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Microphthalmia, Cryptorchidism |
OMIM:603457 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
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Hypoplasia of the iris, Microphthalmia, Hydrocephalus |
OMIM:175780 |
Isolated Arrhinia |
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Microphthalmia |
ORPHA:1134 |
Treacher Collins Syndrome 1 |
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Cryptorchidism, Bilateral microphthalmos, Abnormal heart morphology |
OMIM:154500 |
Norrie Disease |
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Hypoplasia of the iris, Cryptorchidism, Aplasia/Hypoplasia of the lens, Microphthalmia |
ORPHA:649 |