| Syndactyly Type 1 |
|
Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand |
ORPHA:93402 |
| Syndactyly, Type Iii |
|
Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger |
OMIM:186100 |
| Hallux Varus And Preaxial Polysyndactyly |
|
Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus |
OMIM:234280 |
| Polydactyly, Preaxial Ii |
|
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... |
OMIM:174500 |
| Triphalangeal Thumb With Polysyndactyly |
|
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... |
OMIM:190605 |
| Polydactyly, Postaxial, Type A1 |
|
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... |
OMIM:174200 |
| Synpolydactyly 1 |
|
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... |
OMIM:186000 |
| Syndactyly Type 3 |
|
Finger syndactyly, Short toe, Camptodactyly of finger |
ORPHA:93404 |
| Intellectual Developmental Disorder, Autosomal Recessive 33 |
|
Syndactyly, Short toe |
OMIM:614341 |
| Syndactyly Type 2 |
|
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... |
ORPHA:93403 |
| Polydactyly, Postaxial, Type A5 |
|
Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis |
OMIM:263450 |
| Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
|
Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t... |
ORPHA:1891 |
| Syndactyly, Type Iv |
|
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... |
OMIM:186200 |
| Acropectoral Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
| Polydactyly, Preaxial Iv |
|
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... |
OMIM:174700 |
| Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
| Spinal Muscular Atrophy With Mental Retardation |
|
Syndactyly |
OMIM:271109 |
| Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
2-4 toe syndactyly, Syndactyly |
OMIM:241000 |
| Syndactyly Type 5 |
|
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl... |
ORPHA:93406 |
| Chromosome 2Q35 Duplication Syndrome |
|
Distal symphalangism of hands, 3-4 finger syndactyly, 2-3 toe syndactyly, Cutaneous syndactyly |
OMIM:185900 |
| Liebenberg Syndrome |
|
Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl... |
OMIM:186550 |
| Brachydactyly, Type A2 |
|
Hallux valgus, Triangular shaped middle phalanx of the 2nd finger, Broad hallux, Short hallux, Ul... |
OMIM:112600 |
| Wahab Syndrome |
|
Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A... |
OMIM:615170 |
| Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab... |
ORPHA:3246 |
| Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia |
ORPHA:71289 |
| Ectrodactyly-Polydactyly Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... |
ORPHA:1892 |
| Brachydactyly Type A7 |
|
Hallux valgus, Short 2nd finger, Sandal gap, Short hallux, Aplasia/Hypoplasia of the middle phala... |
ORPHA:93397 |
| Brachydactyly-Syndactyly Syndrome |
|
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... |
OMIM:610713 |
| Congenital Radioulnar Synostosis |
|
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... |
ORPHA:3269 |
| Split-Hand/Foot Malformation 6 |
|
Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly |
OMIM:225300 |
| Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction |
|
Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl... |
OMIM:609432 |
| Split-Hand/Foot Malformation 4 |
|
Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th... |
OMIM:605289 |
| Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
| Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... |
ORPHA:93405 |
| Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th... |
ORPHA:157801 |
| Chromosome 2Q31.1 Duplication Syndrome |
|
Absent thumb, Short thumb, 3-4 finger cutaneous syndactyly, Talipes equinovarus, Triphalangeal thumb |
OMIM:613681 |
| Split-Hand/Foot Malformation 2 |
|
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger |
OMIM:313350 |
| Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
| Metacarpal 4-5 Fusion |
|
Clinodactyly of the 5th finger, 2-3 toe cutaneous syndactyly, 4-5 metacarpal synostosis, Short 5t... |
OMIM:309630 |
| Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
| Syndactyly, Type V |
|
Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p... |
OMIM:186300 |
| Heart-Hand Syndrome, Slovenian Type |
|
Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand |
OMIM:610140 |
| Syndactyly-Polydactyly-Earlobe Syndrome |
|
Broad toe, Preaxial hand polydactyly, 1-2 toe complete cutaneous syndactyly, Preaxial foot polyda... |
OMIM:186350 |
| Brachydactyly-Syndactyly, Zhao Type |
|
Hallux valgus, Toe syndactyly, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Sy... |
ORPHA:93409 |
| Craniosynostosis, Philadelphia Type |
|
Finger syndactyly |
ORPHA:1527 |
| Split-Foot Malformation With Mesoaxial Polydactyly |
|
1-2 toe syndactyly, Mesoaxial hand polydactyly, 4-5 toe syndactyly, Split hand, Split foot |
OMIM:616890 |
| Split-Hand/Foot Malformation 1 |
|
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly, Ectrodact... |
OMIM:183600 |
| Split-Foot Malformation-Mesoaxial Polydactyly Syndrome |
|
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl... |
ORPHA:488232 |
| Brachydactyly Type B |
|
Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas... |
ORPHA:93383 |
| Brachydactyly Type B2 |
|
Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ... |
ORPHA:140908 |
| Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Aplasia/Hypoplasia of toe, Syndactyly, Duplication of metatarsal bones, Cutaneous finger syndactyly |
OMIM:600384 |
| Santos Syndrome |
|
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... |
OMIM:613005 |
| Crossed Polysyndactyly |
|
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyly |
ORPHA:2935 |
| Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly |
OMIM:215850 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Syndactyly, Postaxial hand polydactyly |
OMIM:615938 |
| Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
| Polydactyly, Postaxial, Type A7 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Short fifth metatarsal, 2-3 toe cutaneous... |
OMIM:617642 |
| Summitt Syndrome |
|
Syndactyly |
OMIM:272350 |
| Multiple Synostoses Syndrome 3 |
|
Broad hallux, Limited interphalangeal movement, Hallux varus, Humeroradial synostosis, Metatarsal... |
OMIM:612961 |
| Femur-Fibula-Ulna Complex |
|
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... |
ORPHA:2019 |
| Hydrocephalus, Congenital, 5, Susceptibility To |
|
Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
| Acropectorovertebral Dysplasia |
|
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... |
OMIM:102510 |
| Bardet-Biedl Syndrome 5 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615983 |
| Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome |
|
2-4 finger syndactyly, 1-4 finger syndactyly, Split hand, 2-3 finger syndactyly, Camptodactyly, J... |
OMIM:225280 |
| Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
ORPHA:2807 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... |
OMIM:246570 |
| Fatco Syndrome |
|
Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma... |
ORPHA:2492 |
| Intellectual Developmental Disorder, Autosomal Dominant 4 |
|
Syndactyly, Short toe |
OMIM:612581 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
| Camptobrachydactyly |
|
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Ulna... |
ORPHA:1319 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Syndactyly, Polydactyly, Abnormal hip bone morphology, Upper limb phocomelia |
ORPHA:294975 |
| 15Q11Q13 Microduplication Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly |
ORPHA:238446 |
| Beemer Lethal Malformation Syndrome |
|
Hydrocephalus |
OMIM:209970 |
| Proximal Symphalangism |
|
Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ... |
ORPHA:3250 |
| Split hand/foot malformation 1 (SHFM1) |
|
Toe syndactyly, Split hand, 2-3 toe syndactyly, Cutaneous finger syndactyly, Split foot |
DECIPHER:46 |
| Synpolydactyly 2 |
|
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... |
OMIM:608180 |
| Aphalangy-Syndactyly-Microcephaly Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, ... |
ORPHA:1113 |
| Brachydactyly, Type B2 |
|
Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the... |
OMIM:611377 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615937 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Abnormality of the elbow |
ORPHA:3268 |
| Split-Foot Deformity With Mandibulofacial Dysostosis |
|
Split hand, Toe syndactyly, Split foot |
OMIM:183700 |
| Jawad Syndrome |
|
Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd... |
OMIM:251255 |
| Pineocytoma |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251912 |
| Aurocephalosyndactyly |
|
4-5 toe syndactyly |
OMIM:109050 |
| Feingold Syndrome 2 |
|
Short middle phalanx of the 2nd finger, Short thumb, 2-3 toe syndactyly, Short middle phalanx of ... |
OMIM:614326 |
| Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A... |
OMIM:135750 |
| Camptobrachydactyly |
|
Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly |
OMIM:114150 |
| Isolated Split Hand-Split Foot Malformation |
|
Finger syndactyly, Split hand, Absent hand, Oligodactyly |
ORPHA:2440 |
| Hydrocephalus, Congenital, 4 |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
| Feingold Syndrome Type 2 |
|
Short thumb, Toe syndactyly, Short middle phalanx of finger, Brachydactyly |
ORPHA:391646 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus |
OMIM:166990 |
| Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Clinodactyly of the 5th finger, Syndactyly, Tapered finger |
OMIM:618725 |
| Postaxial Tetramelic Oligodactyly |
|
Abnormal finger morphology, Ectrodactyly, Oligodactyly, Abnormal metacarpal morphology |
ORPHA:2730 |
| 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 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormal ... |
ORPHA:2141 |
| Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:1538 |
| Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus |
OMIM:220200 |
| Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
| Acropectorovertebral Dysplasia |
|
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Triphalangeal thumb, Synostosis of... |
ORPHA:957 |
| Gordon Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Camptodactyly of finger |
ORPHA:376 |
| Adams-Oliver Syndrome 3 |
|
Absent toe, Short metatarsal, 2-3 toe syndactyly, Short palm, Short distal phalanx of finger, Sho... |
OMIM:614814 |
| Grange Syndrome |
|
Syndactyly, Patent ductus arteriosus, Short palm |
ORPHA:79094 |
| Sclerosteosis |
|
Finger syndactyly, 2-3 finger syndactyly, Diaphyseal thickening, Curved distal phalanges of the hand |
ORPHA:3152 |
| Carpenter Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Postaxial hand polydactyly, Patent ductus arterios... |
ORPHA:65759 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Ventriculomegaly |
OMIM:618709 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Syndactyly, Clinodactyly, Brachydactyly |
OMIM:610023 |
| Biemond Syndrome Ii |
|
Hydrocephalus |
OMIM:210350 |
| Greig Cephalopolysyndactyly Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Postaxial han... |
ORPHA:380 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of the thumb, Triangular sha... |
ORPHA:370010 |
| Congenital Disorder Of Glycosylation, Type Iid |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:607091 |
| Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Delayed epiphyseal ossification, Genu valgum, Cutaneous syndactyly, Clinodactyly, Spindle-shaped ... |
ORPHA:166024 |
| Chudley-Mccullough Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:604213 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
| Hypotrichosis-Intellectual Disability, Lopes Type |
|
1-5 finger complete cutaneous syndactyly |
ORPHA:2266 |
| Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
| Mesomelic Dysplasia, Nievergelt Type |
|
Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elbow dislocation,... |
ORPHA:2633 |
| Bardet-Biedl Syndrome 4 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615982 |
| Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation |
OMIM:617967 |
| Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia... |
OMIM:113000 |
| Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
| Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... |
ORPHA:1986 |
| Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus |
ORPHA:99966 |
| Charlie M Syndrome |
|
Finger syndactyly, Split hand, Triphalangeal thumb, Abnormal metacarpal morphology, Brachydactyly |
ORPHA:1406 |
| Edinburgh Malformation Syndrome |
|
Hydrocephalus |
OMIM:129850 |
| Boomerang Dysplasia |
|
Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, Micromelia, Ap... |
ORPHA:1263 |
| Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Short thumb, Palmoplantar keratoderma, Triphalangeal ... |
ORPHA:2251 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
| Holt-Oram Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi... |
OMIM:142900 |
| Summitt Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Genu valgum, Short palm, Clinodactyly of the 5th fing... |
ORPHA:3210 |
| Limb-Mammary Syndrome |
|
Hallux valgus, Syndactyly, Split hand, Split foot, Camptodactyly, Joint contracture of the hand |
OMIM:603543 |
| Jackson-Weiss Syndrome |
|
Broad hallux, Calcaneonavicular fusion, Hallux varus, Broad first metatarsal, 2-3 toe syndactyly,... |
OMIM:123150 |
| Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Hydrocephalus |
OMIM:266100 |
| Terminal Osseous Dysplasia |
|
Syndactyly, Camptodactyly of finger, Abnormal hand bone ossification, Short toe, Mesomelic arm sh... |
OMIM:300244 |
| Aplasia Cutis Congenita |
|
Finger syndactyly, Toe syndactyly |
ORPHA:1114 |
| Holoprosencephaly 5 |
|
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... |
OMIM:609637 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:614830 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:1008 |
| Endove Syndrome, Limb-Only Type |
|
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... |
OMIM:619217 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus |
OMIM:258320 |
| Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Broad hallux, Postaxial hand polydactyly, 2-3 finger syndactyly, 2-3 toe syndactyly, Postaxial po... |
OMIM:217085 |
| Band Heterotopia |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:600348 |
| Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome |
|
Patent ductus arteriosus, 2-3 finger syndactyly |
ORPHA:1338 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Short metatarsal, Radioulnar s... |
OMIM:605282 |
| Periventricular Nodular Heterotopia 1 |
|
Patent ductus arteriosus, Syndactyly, Clinodactyly, Short finger |
OMIM:300049 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Syndactyly, Sandal gap, Widely spaced toes, Mitten deformity, Clinodactyly of the 5th finger, Tap... |
OMIM:609638 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Hip dislocation, Clinod... |
OMIM:605432 |
| Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad... |
ORPHA:2378 |
| Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
|
Abnormal thumb morphology, Finger syndactyly, Abnormality of the wrist, Proximal placement of thumb |
ORPHA:1825 |
| Hypomelanosis Of Ito |
|
Syndactyly, Clinodactyly, Hand polydactyly, Radial deviation of finger |
OMIM:300337 |
| Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Syndactyly, Palmoplantar keratoderma |
OMIM:613576 |
| Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly |
OMIM:300484 |
| Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Hypoplasia of deltoid muscle |
OMIM:173800 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Syndactyly, Osteolysis involving bones of the upper limbs, Osteolysis involving bones of the lowe... |
ORPHA:88630 |
| Acalvaria |
|
Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
| Masa Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:303350 |
| Pfeiffer Syndrome Type 1 |
|
Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Short h... |
ORPHA:93258 |
| Schizophrenia 1 |
|
Syndactyly, Short proximal phalanx of the 4th toe |
OMIM:181510 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Clinodactyly of the 5th finger, Syndactyly, Toe syndactyly |
OMIM:601163 |
| Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly |
OMIM:182940 |
| Tukel Syndrome |
|
Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly |
OMIM:609428 |
| Bardet-Biedl Syndrome 9 |
|
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda... |
OMIM:615986 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Hydrocephalus, Ventriculomegaly |
ORPHA:324416 |
| Ectodermal Dysplasia With Mental Retardation And Syndactyly |
|
3-4 finger syndactyly, 2-3 toe syndactyly |
OMIM:600906 |
| Monosomy 5P |
|
Finger syndactyly, Small hand |
ORPHA:281 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities |
|
Syndactyly, Clinodactyly |
OMIM:619091 |
| Joubert Syndrome 33 |
|
Syndactyly |
OMIM:617767 |
| Holt-Oram Syndrome |
|
Finger syndactyly, Down-sloping shoulders, Absent thumb, Abnormality of the humerus, Patent ductu... |
ORPHA:392 |
| Aminopterin Syndrome Sine Aminopterin |
|
Syndactyly, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Short thumb, Clinodactyly... |
OMIM:600325 |
| Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus |
ORPHA:26 |
| 6P22 Microdeletion Syndrome |
|
Patent ductus arteriosus, Finger syndactyly, Clinodactyly |
ORPHA:251046 |
| Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o... |
ORPHA:93322 |
| Greig Cephalopolysyndactyly Syndrome |
|
Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Preaxial hand polydactyly, Postaxial hand... |
OMIM:175700 |
| Radial Aplasia, X-Linked |
|
Hydrocephalus |
OMIM:312190 |
| Developmental And Epileptic Encephalopathy 36 |
|
Hydrocephalus |
OMIM:300884 |
| Joubert Syndrome 17 |
|
Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly |
OMIM:614615 |
| Nevus Comedonicus Syndrome |
|
Finger syndactyly, Toe syndactyly, Preaxial polydactyly |
ORPHA:64754 |
| Distal 7Q11.23 Microduplication Syndrome |
|
Hydrocephalus, Frontal encephalocele |
ORPHA:261102 |
| Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus |
ORPHA:352682 |
| 1Q21.1 Microduplication Syndrome |
|
Hydrocephalus |
ORPHA:250994 |
| Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Anencephaly, Ventriculomegaly |
OMIM:614120 |
| Papillary Tumor Of The Pineal Region |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251915 |
| Moebius Syndrome |
|
Syndactyly, Brachydactyly, Split hand, Abnormal pelvic girdle bone morphology, Talipes equinovaru... |
OMIM:157900 |
| Curry-Jones Syndrome |
|
Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Preaxial hand polydactyly, Foot ... |
ORPHA:1553 |
| Klippel-Trenaunay-Weber Syndrome |
|
Syndactyly, Hand oligodactyly, Macrodactyly, Hand polydactyly |
OMIM:149000 |
| Fibular Hemimelia |
|
Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of the hip, Finger ... |
ORPHA:93323 |
| Fried Syndrome |
|
Hydrocephalus |
ORPHA:85335 |
| Congenital Hydrocephalus |
|
Hydrocephalus, Ventriculomegaly, Colpocephaly |
ORPHA:2185 |
| Melanosis, Neurocutaneous |
|
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation |
OMIM:249400 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hydrocephalus |
OMIM:619470 |
| Eem Syndrome |
|
Finger syndactyly, Ectrodactyly |
ORPHA:1897 |
| Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Tarsal synostosis, Abnormal femur morphology, Abnormal pelvic girdle bone morp... |
ORPHA:3429 |
| Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
2-4 finger syndactyly, 2-3 toe cutaneous syndactyly, 4-5 toe syndactyly, Cutaneous finger syndact... |
OMIM:613573 |
| Weaver Syndrome |
|
Finger syndactyly, Sandal gap, Camptodactyly of finger, Large hands, Talipes equinovarus, Abnorma... |
ORPHA:3447 |
| Gómez-López-Hernández Syndrome |
|
Hydrocephalus |
ORPHA:1532 |
| Bardet-Biedl Syndrome 6 |
|
Syndactyly, Postaxial polydactyly |
OMIM:605231 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Proximal radio-ulnar synostosis, Brachydactyly, Duplication of thumb phalanx, Short hallux, Tibia... |
ORPHA:363417 |
| Long Qt Syndrome 8 |
|
Syndactyly |
OMIM:618447 |
| Multiple Synostoses Syndrome 1 |
|
Single transverse palmar crease, Symphalangism affecting the phalanges of the hand, Cutaneous fin... |
OMIM:186500 |
| Cranioectodermal Dysplasia |
|
Finger syndactyly, Brachydactyly, Rhizomelia, Abnormal diaphysis morphology, Clinodactyly of the ... |
ORPHA:1515 |
| Cutis Laxa, Autosomal Recessive, Type Iie |
|
Syndactyly, Genu varum, Hip dislocation, Deep palmar crease, Clinodactyly of the 5th finger, Brac... |
OMIM:619451 |
| Epidermolysis Bullosa, Junctional 1B, Severe |
|
Syndactyly |
OMIM:226700 |
| Laurence-Moon Syndrome |
|
Finger syndactyly, Brachydactyly, Hand polydactyly, Bilateral single transverse palmar creases |
ORPHA:2377 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Hydrocephalus |
OMIM:619302 |
| Hydrocephalus, Normal-Pressure, 1 |
|
Normal pressure hydrocephalus |
OMIM:236690 |
| Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Triphalangeal thumb, Short distal pha... |
ORPHA:2994 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Radioulnar synostosis, Abnormal pelvic ... |
ORPHA:1788 |
| Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Syndactyly, Congenital bilateral hip dislocation |
ORPHA:404451 |
| Pfeiffer Syndrome |
|
Finger syndactyly, Brachydactyly, Symphalangism affecting the phalanges of the hand, Hip dysplasi... |
ORPHA:710 |
| Polysyndactyly With Cardiac Malformation |
|
Preaxial hand polydactyly, Syndactyly, Duplication of phalanx of hallux |
OMIM:263630 |
| Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
OMIM:260500 |
| Alexander Disease |
|
Hydrocephalus, Increased CSF protein concentration |
OMIM:203450 |
| Rubinstein-Taybi Syndrome 2 |
|
Syndactyly, Broad hallux, Short first metatarsal, Short 5th toe, Prominent fingertip pads, Broad ... |
OMIM:613684 |
| Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly |
ORPHA:2182 |
| Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus |
OMIM:600559 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... |
ORPHA:3320 |
| Biemond Syndrome Type 2 |
|
Hydrocephalus |
ORPHA:141333 |
| Cenani-Lenz Syndactyly Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Broad hallux, Hypoplasia of the radius, Radioulnar synostosis... |
OMIM:212780 |
| Craniofrontonasal Dysplasia |
|
Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly of finger, Down-sloping should... |
ORPHA:1520 |
| Charcot-Marie-Tooth Disease, Type 4B3 |
|
Syndactyly |
OMIM:615284 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Syndactyly, Clinodactyly, Arachnodactyly |
OMIM:619092 |
| Craniotelencephalic Dysplasia |
|
Hydrocephalus, Frontal encephalocele |
ORPHA:1528 |
| Adams-Oliver Syndrome 6 |
|
Syndactyly, Foot oligodactyly, Brachydactyly |
OMIM:616589 |
| Diencephalic Syndrome |
|
Hydrocephalus |
ORPHA:1672 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Short long bone, Apl... |
ORPHA:2256 |
| Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Hydrocephalus, Ventriculomegaly |
OMIM:304100 |
| Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Finger syndactyly, Toe syndactyly, Elbow dislocation, Patent ductus arteriosus, Aplasia/Hypoplasi... |
ORPHA:1112 |
| Blepharocheilodontic Syndrome 2 |
|
Cutaneous syndactyly |
OMIM:617681 |
| Isolated Osteopoikilosis |
|
Syndactyly, Abnormal pelvis bone morphology, Abnormal pelvis bone ossification, Abnormal femur mo... |
ORPHA:166119 |
| Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus |
OMIM:612247 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Hydrocephalus |
OMIM:300886 |
| 17Q12 Microduplication Syndrome |
|
Finger syndactyly, Toe syndactyly |
ORPHA:261272 |
| Ring Chromosome 21 Syndrome |
|
Syndactyly, Clinodactyly, Small hand, Narrow palm |
ORPHA:1445 |
| Hydrocephalus, Congenital, X-Linked |
|
Aqueductal stenosis, Hydrocephalus |
OMIM:307000 |
| Filippi Syndrome |
|
Finger clinodactyly, Single transverse palmar crease, Cutaneous syndactyly, 2-4 toe syndactyly |
OMIM:272440 |
| Aicardi-Goutieres Syndrome 4 |
|
Hydrocephalus, Ventriculomegaly, CSF lymphocytic pleiocytosis |
OMIM:610333 |
| Pfeiffer Syndrome |
|
Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the fingers, Broad hallux, H... |
OMIM:101600 |
| Mohr Syndrome |
|
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Flared metaphysis, Postaxial f... |
OMIM:252100 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Syndactyly, Polydactyly |
OMIM:602501 |
| Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Hydrocephalus |
ORPHA:73256 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Split hand, Micromelia, Brachydactyly |
ORPHA:2145 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Syndactyly, Camptodactyly |
OMIM:616006 |
| Ritscher-Schinzel Syndrome 2 |
|
Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Patent ductus arteriosus, Cli... |
OMIM:300963 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short long bone, Acetabu... |
OMIM:615503 |
| Craniodigital-Intellectual Disability Syndrome |
|
Finger syndactyly |
ORPHA:1514 |
| 2,4-Dienoyl-Coa Reductase Deficiency |
|
Hydrocephalus, Increased CSF lactate, Colpocephaly, Increased CSF lysine concentration, Ventricul... |
OMIM:616034 |
| Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Elbow dislocation, Short t... |
ORPHA:3258 |
| Silver-Russell Syndrome 3 |
|
Clinodactyly of the 5th finger, Syndactyly, Patent ductus arteriosus, Small hand |
OMIM:616489 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the radius, Brachy... |
OMIM:617895 |
| L1 Syndrome |
|
Aqueductal stenosis, Hydrocephalus |
ORPHA:275543 |
| Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hydrocephalus |
OMIM:618302 |
| Lissencephaly 5 |
|
Occipital encephalocele, Hydrocephalus |
OMIM:615191 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Micromelia, Postaxial ... |
OMIM:614091 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Hydrocephalus |
OMIM:618174 |
| Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Hydrocephalus |
OMIM:615599 |
| Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Short 2nd finger, Sandal gap, Broad hallux, 2-3 toe syndactyly, Cutaneous syndactyly, Short 5th f... |
OMIM:600987 |
| Teebi Hypertelorism Syndrome 2 |
|
Clinodactyly of the 5th finger, Syndactyly |
OMIM:619736 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:83473 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Syndactyly |
OMIM:615631 |
| Acrofrontofacionasal Dysostosis 2 |
|
Syndactyly, Hand polydactyly, Broad hallux, Broad thumb |
OMIM:239710 |
| Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:397951 |
| Pelvis-Shoulder Dysplasia |
|
Syndactyly, Camptodactyly of finger, Fifth finger distal phalanx clinodactyly, Mesomelic/rhizomel... |
ORPHA:2839 |
| Congenital Toxoplasmosis |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:858 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Single transverse palmar crease, 2-3 toe syndactyly, Cutaneous syndactyly, Talipes equinovarus, C... |
OMIM:236500 |
| Desbuquois Dysplasia 2 |
|
Epiphyseal dysplasia, Short metacarpal, Single transverse palmar crease, Monkey wrench femoral ne... |
OMIM:615777 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:602200 |
| Blepharo-Cheilo-Odontic Syndrome |
|
Finger syndactyly |
ORPHA:1997 |
| Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Hydrocephalus |
ORPHA:1516 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Hydrocephalus |
OMIM:616521 |
| Acrootoocular Syndrome |
|
Short metacarpal, Small hypothenar eminence, Sandal gap, Decreased palmar creases, Abnormal finge... |
ORPHA:2980 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hydrocephalus |
ORPHA:2183 |
| Central Precocious Puberty In Male |
|
Hydrocephalus |
ORPHA:649929 |
| Dandy-Walker Malformation With Postaxial Polydactyly |
|
Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation |
OMIM:220220 |
| Microphthalmia With Limb Anomalies |
|
Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of the 5th finge... |
ORPHA:1106 |
| White Forelock With Malformations |
|
Clinodactyly of the 5th finger, Finger syndactyly |
ORPHA:2475 |
| Pfeiffer Syndrome Type 2 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Small hand, ... |
ORPHA:93259 |
| Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Finger syndactyly, Toe syndactyly, Short hallux, Abnormal metacarpal morphology |
ORPHA:3224 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Hydrocephalus, Ventriculomegaly |
OMIM:618577 |
| Silver-Russell Syndrome 1 |
|
Clinodactyly of the 5th finger, Syndactyly, Short middle phalanx of the 5th finger, Short distal ... |
OMIM:180860 |
| 20P13 Microdeletion Syndrome |
|
Finger syndactyly, Clinodactyly, Polydactyly, Brachydactyly |
ORPHA:313781 |
| Grange Syndrome |
|
Finger clinodactyly, Syndactyly, Brachydactyly |
OMIM:602531 |
| Aarskog-Scott Syndrome |
|
Finger syndactyly, Single transverse palmar crease, Camptodactyly of finger, Small hand, Broad pa... |
ORPHA:915 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:272 |
| Blepharocheilodontic Syndrome 1 |
|
Clinodactyly, Cutaneous syndactyly |
OMIM:119580 |
| Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Finger syndactyly, Toe syndactyly, Arachnodactyly, Short palm |
ORPHA:73246 |
| Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:588 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
ORPHA:163961 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Syndactyly, Short 5th finger, Polydactyly, Ectrodactyly, Clinodactyly of the 5th finger |
ORPHA:397590 |
| Postaxial Acrofacial Dysostosis |
|
Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Hypoplasia of the radius |
ORPHA:246 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:613153 |
| Aarskog-Scott Syndrome |
|
Hyperextensibility of the finger joints, Syndactyly, Single transverse palmar crease, Broad palm,... |
OMIM:305400 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Hydrocephalus |
OMIM:601794 |
| Kury-Isidor Syndrome |
|
Finger syndactyly, Rocker bottom foot, Proximal placement of thumb, Hip dysplasia, Talipes equino... |
OMIM:619762 |
| Czeizel-Losonci Syndrome |
|
Hitchhiker thumb, Single transverse palmar crease, 2-3 finger syndactyly, Clubbing of toes, Split... |
ORPHA:2437 |
| Vacterl Association With Hydrocephalus |
|
Aqueductal stenosis, Hydrocephalus |
OMIM:276950 |
| Crane-Heise Syndrome |
|
Finger syndactyly, Toe syndactyly, Hypoplastic scapulae, Aplastic clavicle, Talipes equinovarus, ... |
ORPHA:1512 |
| Isotretinoin Embryopathy-Like Syndrome |
|
Hydrocephalus |
OMIM:243440 |
| Nasu-Hakola Disease |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:2770 |
| Alexander Disease Type I |
|
Hydrocephalus |
ORPHA:363717 |
| Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Hydrocephalus, Holoprosencephaly, Ventriculomegaly |
ORPHA:93274 |
| Krabbe Disease |
|
Hydrocephalus, Increased CSF protein concentration |
OMIM:245200 |
| Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Abnormal hip bone morphology, Synostosis of carpal bones |
ORPHA:1323 |
| Bartsocas-Papas Syndrome |
|
Finger syndactyly, Toe syndactyly, Absent thumb, Aplasia/Hypoplasia of the distal phalanges of th... |
ORPHA:1234 |
| Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation |
OMIM:607361 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Hydrocephalus |
OMIM:613155 |
| Larsen Syndrome |
|
Finger syndactyly, Accessory carpal bones, Abnormal epiphysis morphology, Broad distal phalanx of... |
ORPHA:503 |
| Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Brachydactyly |
OMIM:614800 |
| Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Syndactyly, Clinodactyly |
OMIM:618087 |
| Chiari Malformation Type Ii |
|
Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida |
OMIM:207950 |
| Nephronophthisis 18 |
|
Hydrocephalus |
OMIM:615862 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Hydrocephalus |
ORPHA:99947 |
| Choroidal Atrophy-Alopecia Syndrome |
|
Finger syndactyly |
ORPHA:1433 |
| Meckel Syndrome, Type 4 |
|
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Dandy-Walker malformation |
OMIM:611134 |
| Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Hydrocephalus |
ORPHA:2181 |
| X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Finger syndactyly, Single transverse palmar crease, Camptodactyly, Tapered finger |
ORPHA:435938 |
| Aase-Smith Syndrome I |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:147800 |
| Duane-Radial Ray Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Sandal gap, Short humerus, Abse... |
OMIM:607323 |
| Short Stature With Microcephaly And Distinctive Facies |
|
Syndactyly, Short digit, Proximal placement of thumb, Talipes equinovarus, Short distal phalanx o... |
OMIM:615789 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Syndactyly, Congenital hi... |
OMIM:308050 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Hydrocephalus |
OMIM:300558 |
| Infantile Sialic Acid Storage Disease |
|
Hydrocephalus |
OMIM:269920 |
| Acro-Renal-Ocular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol... |
ORPHA:959 |
| Coach Syndrome 2 |
|
Hydrocephalus |
OMIM:619111 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Finger syndactyly, Abnormality of the elbow, Hip dislocation, Short middle phalanx of finger, Cli... |
ORPHA:1005 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Finger syndactyly, Toe syndactyly, Foot polydactyly, Hand polydactyly |
ORPHA:60040 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Long toe, Overlapping toe, Long fingers, Patent ductus arteriosus, Cutaneous syndactyly, Overlapp... |
OMIM:618316 |
| 2Q31.1 Microdeletion Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Sandal gap, Abnormal morphology of ulna,... |
ORPHA:251014 |
| Optic Pathway Glioma |
|
Hydrocephalus |
ORPHA:2086 |
| Hypoglossia-Hypodactyly Syndrome |
|
Finger syndactyly, Brachydactyly, Adactyly, Split hand, Aplasia/Hypoplasia of fingers, Upper limb... |
ORPHA:989 |
| Filippi Syndrome |
|
Enlarged epiphyses, Finger syndactyly, Clinodactyly of the 5th finger, Clinodactyly of the 5th to... |
ORPHA:3255 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Syndactyly, Single transverse palmar crease, 2-3 toe syndactyly, Coxa vara, Radioulnar synostosis... |
OMIM:614701 |
| Rubinstein-Taybi Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Clubbing o... |
ORPHA:783 |
| Vitamin K Antagonist Embryofetopathy |
|
Myelomeningocele, Hydrocephalus |
ORPHA:1914 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly |
ORPHA:1908 |
| Endocrine-Cerebroosteodysplasia |
|
Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma... |
OMIM:612651 |
| Pfeiffer Syndrome Type 3 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Small hand, ... |
ORPHA:93260 |
| Focal Facial Dermal Dysplasia Type Iv |
|
Hydrocephalus |
ORPHA:398189 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Hydrocephalus |
OMIM:615181 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phocomelia, Short p... |
OMIM:274000 |
| 2Q37 Microdeletion Syndrome |
|
Finger syndactyly, Short metacarpal, Toe syndactyly, Brachydactyly, Small hand, Short foot, Short... |
ORPHA:1001 |
| Metatropic Dysplasia |
|
Hydrocephalus |
ORPHA:2635 |
| Alkuraya-Kucinskas Syndrome |
|
Overlapping toe, Cutaneous syndactyly, Talipes equinovarus, Camptodactyly, Hand clenching, Overla... |
OMIM:617822 |
| Kbg Syndrome |
|
Finger clinodactyly, Single transverse palmar crease, Cutaneous syndactyly |
ORPHA:2332 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Syndactyly, Clinodactyly, Abnormality of the hand, Camptodactyly |
ORPHA:369891 |
| Hemangioblastoma |
|
Hydrocephalus |
ORPHA:252054 |
| Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Hydranencephaly, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:225790 |
| Amelocerebrohypohidrotic Syndrome |
|
Hydrocephalus |
ORPHA:1946 |
| Craniofacial Dyssynostosis With Short Stature |
|
Hydrocephalus, Ventriculomegaly |
OMIM:218350 |
| Hb Bart'S Hydrops Fetalis |
|
Hydrocephalus |
ORPHA:163596 |
| Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Hydrocephalus |
OMIM:241800 |
| Temple Syndrome |
|
Hydrocephalus |
ORPHA:254516 |
| Pili Torti-Onychodysplasia Syndrome |
|
Palmoplantar keratoderma, Cutaneous syndactyly |
ORPHA:2890 |
| Acrofacial Dysostosis, Catania Type |
|
Finger syndactyly, Brachydactyly, Small hand, Short palm, Clinodactyly of the 5th finger, Bilater... |
ORPHA:1786 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Hydrocephalus |
ORPHA:171839 |
| Acrocardiofacial Syndrome |
|
Hallux valgus, Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Split hand, Split foot... |
ORPHA:2008 |
| Arachnoiditis |
|
Hydrocephalus |
ORPHA:137817 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hydrocephalus |
OMIM:617542 |
| Lethal Acantholytic Erosive Disorder |
|
4-5 finger syndactyly, 2-3 finger syndactyly, Clinodactyly of the 5th finger, 3-4 finger syndacty... |
ORPHA:158687 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Hydrocephalus |
ORPHA:2701 |
| Houge-Janssens Syndrome 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:616355 |
| Thanatophoric Dysplasia |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:2655 |
| Oxoglutaric Aciduria |
|
Hydrocephalus |
ORPHA:31 |
| Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Bilateral single transverse pa... |
ORPHA:3103 |
| Hogue-Janssen Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:616362 |
| Blepharonasofacial Malformation Syndrome |
|
Finger syndactyly |
ORPHA:1252 |
| Moebius Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Abnormal morphology of ulna, A... |
ORPHA:570 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hydrocephalus, Ventriculomegaly |
OMIM:109120 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Syndactyly, Proximal placement of thumb, Patent ductus arteriosus, Short palm, Clinodactyly, Brac... |
OMIM:217980 |
| Microphthalmia With Brain And Digit Anomalies |
|
Postaxial foot polydactyly, Finger syndactyly, Proximal placement of thumb |
ORPHA:139471 |
| Williams-Beuren Region Duplication Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:609757 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hydrocephalus |
ORPHA:93262 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615630 |
| Edinburgh Malformation Syndrome |
|
Hydrocephalus |
ORPHA:1895 |
| 19Q13.11 Microdeletion Syndrome |
|
Finger syndactyly, Toe syndactyly, Congenital hip dislocation, Toe clinodactyly, Clinodactyly of ... |
ORPHA:217346 |
| Adams-Oliver Syndrome 2 |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:614219 |
| Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Split hand, Hypoplasia of the ra... |
ORPHA:958 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Occipital encephalocele, Hydrocephalus, Ventriculomegaly |
ORPHA:370959 |
| Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly |
OMIM:614195 |
| Ring Chromosome 12 Syndrome |
|
Syndactyly, Clinodactyly, Abnormal 5th finger morphology, Symphalangism of the thumb |
ORPHA:1439 |
| Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Short hallux, Coxa valga, Patent ductus arteriosus, Abno... |
ORPHA:1517 |
| Adams-Oliver Syndrome |
|
Finger syndactyly, Brachydactyly, Absent toe, Split hand, Absent hand, Abnormality of the upper l... |
ORPHA:974 |
| Rhombencephalosynapsis |
|
Finger syndactyly, Short phalanx of finger, Polydactyly, Complete duplication of thumb phalanx |
ORPHA:59315 |
| Apert Syndrome |
|
Syndactyly, Finger syndactyly, Limited elbow movement, Preaxial hand polydactyly, Delayed epiphys... |
OMIM:101200 |
| Tarp Syndrome |
|
Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Hypoplasia of the rad... |
OMIM:311900 |
| Cri-Du-Chat Syndrome |
|
Syndactyly, Short metacarpal, Single transverse palmar crease, Metatarsus adductus, Short metatar... |
OMIM:123450 |
| Acrofacial Dysostosis, Palagonia Type |
|
Finger syndactyly, Small hand, Short 4th metacarpal |
ORPHA:1787 |
| X Small Rings |
|
Toe syndactyly, Tapered finger, 2-3 toe syndactyly, Upper limb undergrowth, Cutaneous syndactyly,... |
ORPHA:96201 |
| Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Cubitus valgus, Syndactyly, Patent ductus arteriosus, Congenital hip dislocation |
OMIM:104350 |
| Orofaciodigital Syndrome Type 6 |
|
Syndactyly, Mesoaxial polydactyly, Central Y-shaped metacarpal, Preaxial polydactyly, Finger clin... |
ORPHA:2754 |
| 8Q22.1 Microdeletion Syndrome |
|
Finger syndactyly, Sandal gap, Camptodactyly of finger |
ORPHA:178303 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Dandy-Walker malformation, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, ... |
OMIM:613154 |
| Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Hydrocephalus |
OMIM:613330 |
| Goldberg-Shprintzen Megacolon Syndrome |
|
Finger syndactyly |
ORPHA:66629 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Colpocephaly, Hydrocephalus, Ventriculomegaly |
OMIM:619833 |
| Crouzon Syndrome |
|
Hydrocephalus |
ORPHA:207 |
| Bohring-Opitz Syndrome |
|
Syndactyly, Overlapping toe, Ulnar deviation of the wrist, Tapered finger, Mesomelic/rhizomelic l... |
OMIM:605039 |
| B4Galt1-Cdg |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:79332 |
| Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal phalanges of the ... |
ORPHA:1647 |
| Timothy Syndrome |
|
Patent ductus arteriosus, Cutaneous syndactyly |
OMIM:601005 |
| 19P13.12 Microdeletion Syndrome |
|
Short palm, Finger syndactyly, Sandal gap, Deep palmar crease, Toe clinodactyly, Clinodactyly of ... |
ORPHA:254346 |
| Mckusick-Kaufman Syndrome |
|
Finger syndactyly, Tarsal synostosis, Postaxial hand polydactyly, Patent ductus arteriosus, Posta... |
ORPHA:2473 |
| Pallister-Hall Syndrome |
|
Syndactyly, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Postaxial han... |
OMIM:146510 |
| Ritscher-Schinzel Syndrome 1 |
|
Syndactyly |
OMIM:220210 |
| Temple Syndrome |
|
Hydrocephalus |
OMIM:616222 |
| Adams-Oliver Syndrome 5 |
|
Syndactyly, Brachydactyly |
OMIM:616028 |
| Myoclonic-Astatic Epilepsy |
|
Syndactyly |
ORPHA:1942 |
| Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Colpocephaly, Hydrocephalus, Ventriculomegaly |
OMIM:615219 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Overlapping toe, Single transverse palmar crease, Tapered finger, Short thumb, Patent ductus arte... |
OMIM:619148 |
| Sclerosteosis 1 |
|
Syndactyly, 2-3 finger syndactyly, Deviation of finger, Abnormal pelvic girdle bone morphology, C... |
OMIM:269500 |
| Postaxial Acrofacial Dysostosis |
|
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Short thumb, Hypoplasia of the ra... |
OMIM:263750 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Hydrocephalus, Ventriculomegaly, Colpocephaly |
OMIM:620156 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Finger syndactyly, Arachnodactyly, Long palm, Camptodactyly of finger, Tapered finger, Metatarsus... |
ORPHA:2215 |
| Plasminogen Deficiency, Type I |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:217090 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Hydrocephalus |
ORPHA:2180 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:603387 |
| Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities |
|
Clinodactyly of the 5th finger, Syndactyly, Broad palm |
OMIM:618505 |
| Methylcobalamin Deficiency Type Cble |
|
Syndactyly, Clinodactyly |
ORPHA:2169 |
| Hamamy Syndrome |
|
Long toe, Syndactyly, Down-sloping shoulders, Tapered finger, Long fingers, Hip dysplasia, Clinod... |
OMIM:611174 |
| Cole-Carpenter Syndrome 1 |
|
Communicating hydrocephalus, Hydrocephalus |
OMIM:112240 |
| Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Communicating hydrocephalus |
ORPHA:2184 |
| Oculodentodigital Dysplasia |
|
Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Short hallux, Aplasia/Hypoplasia of t... |
ORPHA:2710 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Hydrocephalus, Ventriculomegaly |
OMIM:219730 |
| Myopathy, Centronuclear, X-Linked |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:310400 |
| Tetrasomy 15Q26 |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:614846 |
| Cohen Syndrome |
|
Finger syndactyly, Arachnodactyly, Sandal gap, Tapered finger, Narrow palm, Slender toe, Genu val... |
ORPHA:193 |
| Triploidy |
|
Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:3376 |
| Bresek Syndrome |
|
Hydrocephalus |
ORPHA:85284 |
| Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Communicating hydrocephalus |
ORPHA:1861 |
| Gorlin Syndrome |
|
Hydrocephalus |
ORPHA:377 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Syndactyly |
OMIM:614520 |
| Teebi-Shaltout Syndrome |
|
Syndactyly, Ulnar deviation of the hand, Single transverse palmar crease, Rocker bottom foot, Met... |
OMIM:272950 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Hydrocephalus |
OMIM:300863 |
| Bardet-Biedl Syndrome |
|
Finger syndactyly, Postaxial hand polydactyly |
ORPHA:110 |
| Pettigrew Syndrome |
|
Aqueductal stenosis, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:304340 |
| Constricting Bands, Congenital |
|
Syndactyly, Hand polydactyly, Talipes equinovarus |
OMIM:217100 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hydrocephalus |
OMIM:620157 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Finger syndactyly, Overlapping toe, Single transverse palmar crease, Deviation of the 2nd finger,... |
ORPHA:464738 |
| Orofaciodigital Syndrome Type 2 |
|
Finger syndactyly, Broad hallux, Short tibia, Adactyly, Broad first metatarsal, Postaxial hand po... |
ORPHA:2751 |
| Muenke Syndrome |
|
Hydrocephalus |
ORPHA:53271 |
| Meckel Syndrome 14 |
|
Syndactyly, Bowing of the long bones, Postaxial polydactyly, Postaxial hand polydactyly, Postaxia... |
OMIM:619879 |
| Albers-Schönberg Osteopetrosis |
|
Hydrocephalus |
ORPHA:53 |
| Holoprosencephaly 14 |
|
Ventriculomegaly, Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Subependymal cyst... |
OMIM:619895 |
| Saethre-Chotzen Syndrome |
|
Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Brachydactyly, Triphalangeal t... |
ORPHA:794 |
| Opitz-Kaveggia Syndrome |
|
Syndactyly, Broad hallux, Single transverse palmar crease, Split hand, Radial deviation of finger... |
OMIM:305450 |
| Ciliary Dyskinesia, Primary, 43 |
|
Noncommunicating hydrocephalus |
OMIM:618699 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Hydrocephalus, Ventriculomegaly |
OMIM:614576 |
| Griscelli Syndrome |
|
Encephalocele, Hydrocephalus |
ORPHA:381 |
| Basal Cell Nevus Syndrome 2 |
|
Hydrocephalus |
OMIM:620343 |
| Diabetic Embryopathy |
|
Hydrocephalus, Spinal dysraphism |
ORPHA:1926 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate |
ORPHA:90065 |
| Joubert Syndrome 14 |
|
Encephalocele, Hydrocephalus, Meningocele, Dandy-Walker malformation |
OMIM:614424 |
| Emanuel Syndrome |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:609029 |
| Multiple Sulfatase Deficiency |
|
Hydrocephalus, Increased CSF protein concentration, Ventriculomegaly |
OMIM:272200 |
| Hydrolethalus |
|
Hydrocephalus, Anencephaly |
ORPHA:2189 |
| Bardet-Biedl Syndrome 1 |
|
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Short ... |
OMIM:209900 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hydrocephalus, Holoprosencephaly |
ORPHA:77298 |
| Neu-Laxova Syndrome 2 |
|
Finger syndactyly, Toe syndactyly, Rocker bottom foot |
OMIM:616038 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Hydrocephalus, Choroid plexus cyst, Ventriculomegaly |
OMIM:617866 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Syndactyly, Patent ductus arteriosus, Mesomelia, Camptodactyly, Clinodactyly, Short phalanx of fi... |
OMIM:616894 |
| Focal Dermal Hypoplasia |
|
Finger syndactyly, Toe syndactyly, Abnormal palmar dermatoglyphics, Camptodactyly of finger, Pate... |
ORPHA:2092 |
| Autosomal Dominant Popliteal Pterygium Syndrome |
|
Finger syndactyly, Toe syndactyly, Split hand |
ORPHA:1300 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Syndactyly, Arachnodactyly, Rocker bottom foot, Down-sloping shoulders, Patellar aplasia, Hip dis... |
OMIM:265000 |
| Kbg Syndrome |
|
Syndactyly, Single transverse palmar crease, Cutaneous syndactyly, Radial deviation of finger, Sh... |
OMIM:148050 |
| Acromelic Frontonasal Dysostosis |
|
Syndactyly, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Polydactyly, Ta... |
OMIM:603671 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:612582 |
| 1Q44 Microdeletion Syndrome |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:238769 |
| Prader-Willi Syndrome |
|
Syndactyly, Acromicria, Small hand, Narrow palm, Genu valgum, Short foot, Hip dysplasia, Radial d... |
OMIM:176270 |
| 3C Syndrome |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
ORPHA:7 |
| Mosaic Trisomy 16 |
|
Syndactyly, Single transverse palmar crease, Short thumb, Patent ductus arteriosus, Short femoral... |
ORPHA:1708 |
| Glutaric Acidemia I |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:231670 |
| Large Congenital Melanocytic Nevus |
|
Hydrocephalus |
ORPHA:626 |
| Emanuel Syndrome |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
ORPHA:96170 |
| Beemer-Ertbruggen Syndrome |
|
Communicating hydrocephalus |
ORPHA:1237 |
| Thanatophoric Dysplasia Type 1 |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:1860 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hydrocephalus |
ORPHA:163966 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:612938 |
| Adult Syndrome |
|
Finger syndactyly, Toe syndactyly, Split foot |
ORPHA:978 |
| Hec Syndrome |
|
Communicating hydrocephalus |
ORPHA:2119 |
| Microphthalmia, Lenz Type |
|
Finger syndactyly, Camptodactyly of finger, Abnormal shoulder morphology, Clinodactyly of the 5th... |
ORPHA:568 |
| Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Abnormal morphology of ulna, Abnormality of t... |
ORPHA:2911 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Syndactyly, Short metacarpal, Absent palmar crease, Camptodactyly |
OMIM:614230 |
| Trisomy 1Q |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:261344 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Syndactyly, Down-sloping shoulders, Metatarsus adductus, Broad palm, Short foot, Camptodactyly, C... |
OMIM:227330 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Hydrocephalus |
ORPHA:2736 |
| 14Q22Q23 Microdeletion Syndrome |
|
Finger syndactyly, Toe syndactyly, Short foot, Short palm, Clinodactyly of the 5th finger, Short ... |
ORPHA:264200 |
| Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
2-3 toe cutaneous syndactyly, 3-4 finger cutaneous syndactyly, Cutaneous syndactyly, Talipes equi... |
OMIM:620029 |
| Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Noncommunicating hydrocephalus |
OMIM:619320 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Syndactyly |
OMIM:616430 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Hydrocephalus |
OMIM:615249 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation |
OMIM:618476 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:459061 |
| Isolated Posterior Meningocele |
|
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele |
ORPHA:268810 |
| Absent Radius-Anogenital Anomalies Syndrome |
|
Hydrocephalus |
ORPHA:3016 |
| Fanconi Anemia, Complementation Group R |
|
Hydrocephalus |
OMIM:617244 |
| Autosomal Recessive Robinow Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Bilateral single transverse palmar creas... |
ORPHA:1507 |
| Fg Syndrome Type 1 |
|
Finger syndactyly, Limited elbow extension and supination, Broad toe, Single transverse palmar cr... |
ORPHA:93932 |
| Tenorio Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:616260 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Hyperextensibility of the finger joints, Syndactyly, Aplasia/Hypoplasia of the middle phalanges o... |
OMIM:151050 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Finger syndactyly, Toe syndactyly, Palmoplantar hyperkeratosis, Bilateral single transverse palma... |
ORPHA:3253 |
| Walker-Warburg Syndrome |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
ORPHA:899 |
| Mckusick-Kaufman Syndrome |
|
Syndactyly, Postaxial hand polydactyly, Congenital hip dislocation, Mesoaxial hand polydactyly |
OMIM:236700 |
| Developmental And Epileptic Encephalopathy 49 |
|
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation |
OMIM:617281 |
| Cerebrofacioarticular Syndrome |
|
Syndactyly, Talipes equinovarus, Camptodactyly, Caudal appendage |
ORPHA:314679 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:616538 |
| Pontocerebellar Hypoplasia, Type 7 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:614969 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Hydrocephalus |
OMIM:259710 |
| Iniencephaly |
|
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dysraphism, Hol... |
ORPHA:63259 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Hydrocephalus |
OMIM:614886 |
| Cole-Carpenter Syndrome 2 |
|
Hydrocephalus |
OMIM:616294 |
| Apert Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Micromelia, Broad thumb |
ORPHA:87 |
| Bartsocas-Papas Syndrome 1 |
|
Syndactyly, Short metacarpal, Hypoplastic scapulae, Absent thumb, Absent radius, Short thumb, Uln... |
OMIM:263650 |
| Thanatophoric Dysplasia, Type I |
|
Hydrocephalus |
OMIM:187600 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Myelomeningocele, Spina bifida occulta, Hydrocephalus |
OMIM:613686 |
| 8Q21.11 Microdeletion Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Absent palmar crease, Abnormal metacarpal morphology |
ORPHA:284160 |
| Peho Syndrome |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:2836 |
| Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Hydrocephalus |
ORPHA:2318 |
| Cutis Laxa, Autosomal Recessive, Type Iib |
|
Hydrocephalus |
OMIM:612940 |
| Trisomy 17P |
|
Hydrocephalus |
ORPHA:261290 |
| Neonatal Lupus Erythematosus |
|
Hydrocephalus |
ORPHA:398124 |
| Joubert Syndrome With Renal Defect |
|
Encephalocele, Hydrocephalus |
ORPHA:220497 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:612863 |
| Proteus-Like Syndrome |
|
Communicating hydrocephalus, Hydrocephalus |
ORPHA:2969 |
| Lowry-Maclean Syndrome |
|
Hydrocephalus |
ORPHA:2409 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Syndactyly |
OMIM:224120 |
| Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Hydrocephalus, Dilated third ventricle, Ventriculomegaly |
ORPHA:500055 |
| Tarp Syndrome |
|
Finger syndactyly, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Hy... |
ORPHA:2886 |
| Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Syndactyly, Abnormal pelvis bone morphology, Aplasia... |
ORPHA:3472 |
| Joubert Syndrome |
|
Encephalocele, Hydrocephalus |
ORPHA:475 |
| Acrocallosal Syndrome |
|
Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Tapered finger, Bifid distal pha... |
OMIM:200990 |
| Fanconi Anemia, Complementation Group B |
|
Hydrocephalus, Ventriculomegaly |
OMIM:300514 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Finger syndactyly, Camptodactyly of finger |
ORPHA:2311 |
| Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Hydrocephalus, Anencephaly |
OMIM:612284 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Syndactyly, Narrow joint spaces of the elbow, Clinodactyly of the 5th finger, Clinodactyly, Brach... |
ORPHA:96182 |
| Primary Ciliary Dyskinesia |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:244 |
| Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Encephalocele, Hydrocephalus |
OMIM:224400 |
| Cutis Marmorata Telangiectatica Congenita |
|
Finger syndactyly, Toe syndactyly, Patent ductus arteriosus, Abnormality of the upper limb, Short... |
ORPHA:1556 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Hydrocephalus |
OMIM:601499 |
| Limb-Mammary Syndrome |
|
Syndactyly, Toe syndactyly, 3-4 finger cutaneous syndactyly, Clinodactyly of the 5th finger, Olig... |
ORPHA:69085 |
| Axial Mesodermal Dysplasia Spectrum |
|
Hydrocephalus |
ORPHA:1834 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:1812 |
| Gracile Bone Dysplasia |
|
Hydrocephalus |
OMIM:602361 |
| Joubert Syndrome With Ocular Defect |
|
Encephalocele, Hydrocephalus |
ORPHA:220493 |
| Trisomy 20P |
|
Finger syndactyly, Camptodactyly of finger, Preaxial hand polydactyly, Abnormal hip bone morpholo... |
ORPHA:261318 |
| Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract |
OMIM:600145 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Hydrocephalus |
OMIM:259700 |
| Saethre-Chotzen Syndrome |
|
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di... |
OMIM:101400 |
| Rapp-Hodgkin Syndrome |
|
Syndactyly, 2-3 toe cutaneous syndactyly, Palmoplantar keratoderma |
OMIM:129400 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Hydrocephalus |
ORPHA:1865 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Hydrocephalus |
OMIM:314390 |
| Orofaciodigital Syndrome Type 1 |
|
Finger syndactyly, Tarsal synostosis, Preaxial hand polydactyly, Short toe, Postaxial hand polyda... |
ORPHA:2750 |
| 47,Xyy Syndrome |
|
Hydrocephalus |
ORPHA:8 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Hydrocephalus |
OMIM:619951 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Hydrocephalus, Holoprosencephaly |
OMIM:253800 |
| Cerebral Visual Impairment |
|
Hydrocephalus |
ORPHA:447788 |
| Achondroplasia |
|
Hydrocephalus |
ORPHA:15 |
| Pseudotrisomy 13 Syndrome |
|
Encephalocele, Hydrocephalus, Holoprosencephaly |
OMIM:264480 |
| Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Communicating hydrocephalus |
ORPHA:1064 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:614643 |
| Tetrasomy 5P |
|
Hydrocephalus |
ORPHA:3309 |
| Congenital Sialidosis Type 2 |
|
Hydrocephalus |
ORPHA:93400 |
| Dural Sinus Malformation |
|
Myelopathy, Hydrocephalus |
ORPHA:97339 |
| Crouzon Syndrome |
|
Hydrocephalus |
OMIM:123500 |
| Genitopalatocardiac Syndrome |
|
Hydrocephalus |
ORPHA:2075 |
| Arachnoid Cyst |
|
Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus, Holoprosencephaly |
ORPHA:2356 |
| Distal Triplication 15Q |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:314588 |
| Vacterl/Vater Association |
|
Preaxial hand polydactyly, Finger syndactyly, Aplasia/Hypoplasia of the radius |
ORPHA:887 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Lateral ventricular asymmetry, Hydrocephalus |
OMIM:616914 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Hydrocephalus |
OMIM:239300 |
| Joubert Syndrome 2 |
|
Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus |
OMIM:608091 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Hydrocephalus, Ventriculomegaly |
OMIM:613150 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Syndactyly, Unilateral brachydactyly, Aplasia/Hypoplasia involving the shoulder musculature |
ORPHA:1521 |
| Multiple Sulfatase Deficiency |
|
Hydrocephalus |
ORPHA:585 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Finger syndactyly, Down-sloping shoulders, Short foot, Clinodactyly of the 5th finger, Brachydactyly |
ORPHA:1974 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly, Broad hallux phalanx, Broad thumb |
ORPHA:2211 |
| Pentalogy Of Cantrell |
|
Encephalocele, Hydrocephalus, Anencephaly |
ORPHA:1335 |
| Desmosterolosis |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:35107 |
| Lacrimoauriculodentodigital Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Absent thumb, Abnorm... |
ORPHA:2363 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Finger syndactyly, Aplastic clavicle, Abnormal metacarpal morphology, Abnormal finger morphology,... |
ORPHA:2658 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Finger syndactyly, Genu varum |
ORPHA:1969 |
| Eec Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Proximal placement of thumb, ... |
ORPHA:1896 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Hydrocephalus |
ORPHA:2720 |
| Functioning Gonadotropic Adenoma |
|
Hydrocephalus |
ORPHA:91348 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Hydrocephalus |
OMIM:616482 |
| Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Hydrocephalus |
OMIM:618590 |
| Encephalocraniocutaneous Lipomatosis |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:613001 |
| Lateral Meningocele Syndrome |
|
Hydrocephalus, Meningocele |
OMIM:130720 |
| Rabin-Pappas Syndrome |
|
Hydrocephalus |
OMIM:620155 |
| Congenital Myopathy 22A, Classic |
|
Normal pressure hydrocephalus |
OMIM:620351 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Occipital meningocele, Hydrocephalus, Anencephaly, Ventriculomegaly |
OMIM:616546 |
| Lhermitte-Duclos Disease |
|
Hydrocephalus |
ORPHA:65285 |
| Monosomy 22 |
|
Clinodactyly of the 5th finger, Finger syndactyly, Clubbing, Single transverse palmar crease |
ORPHA:96123 |
| Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:395 |
| Fraser Syndrome 3 |
|
Short toe, Cutaneous syndactyly |
OMIM:617667 |
| Orofaciodigital Syndrome I |
|
Syndactyly, Short 2nd toe, Polydactyly, Radial deviation of finger, Clinodactyly, Brachydactyly |
OMIM:311200 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Hydrocephalus |
ORPHA:3301 |
| Whipple Disease |
|
Hydrocephalus |
ORPHA:3452 |
| Thoracoabdominal Syndrome |
|
Hydrocephalus, Anencephaly |
OMIM:313850 |
| Chromosome 17P13.1 Deletion Syndrome |
|
Hydrocephalus, Spina bifida |
OMIM:613776 |
| Bloom Syndrome |
|
Clinodactyly of the 5th finger, Syndactyly, Hand polydactyly |
OMIM:210900 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:257300 |
| Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:613603 |
| Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Hydrocephalus |
ORPHA:1555 |
| Mucopolysaccharidosis, Type Ii |
|
Hydrocephalus |
OMIM:309900 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Communicating hydrocephalus, Ventriculomegaly, Subependymal nodules |
ORPHA:25 |
| Meckel Syndrome, Type 1 |
|
Syndactyly, Bowing of the long bones, Camptodactyly of finger, Postaxial polydactyly, Postaxial h... |
OMIM:249000 |
| Vacterl With Hydrocephalus |
|
Aqueductal stenosis, Hydrocephalus, Spina bifida |
ORPHA:3412 |
| Smith-Lemli-Opitz Syndrome |
|
Finger syndactyly, Rhizomelia, Proximal placement of thumb, Postaxial hand polydactyly, Split han... |
ORPHA:818 |
| Rubinstein-Taybi Syndrome 1 |
|
Syndactyly, Broad hallux phalanx, Broad hallux, Single transverse palmar crease, Radial deviation... |
OMIM:180849 |
| Monosomy 13Q14 |
|
Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly |
ORPHA:1587 |
| Icf Syndrome |
|
Communicating hydrocephalus |
ORPHA:2268 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Hydrocephalus |
OMIM:207410 |
| Mirage Syndrome |
|
Hydrocephalus |
OMIM:617053 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Meningoencephalocele, Hydrocephalus, Dandy-Walker malformation, Ventricu... |
OMIM:236670 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:123790 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Lateral ventricle dilatation, Normal pressure hydrocephalus |
ORPHA:300570 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Symphalangism affecting the phalanges of the hand |
ORPHA:2990 |
| Neu-Laxova Syndrome 1 |
|
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Micromelia, Long fingers, Patent ductus ar... |
OMIM:256520 |
| Joubert Syndrome With Hepatic Defect |
|
Occipital encephalocele, Hydrocephalus |
ORPHA:1454 |
| Fanconi Anemia |
|
Finger syndactyly, Hypoplasia of the ulna, Toe syndactyly, Abnormal morphology of ulna, Abnormal ... |
ORPHA:84 |
| Autosomal Dominant Robinow Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Micromelia, Coxa valga, Elbow dislocation, Avascular ... |
ORPHA:3107 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephal... |
OMIM:615287 |
| Cranioectodermal Dysplasia 2 |
|
Syndactyly, Rhizomelia, Postaxial hand polydactyly, Patent ductus arteriosus, Polydactyly, Mesome... |
OMIM:613610 |
| Cardiofaciocutaneous Syndrome 1 |
|
Hydrocephalus |
OMIM:115150 |
| Vater/Vacterl Association |
|
Syndactyly, Absent radius, Short thumb, Patent ductus arteriosus, Hypoplasia of the radius, Preax... |
OMIM:192350 |
| Cerebrooculonasal Syndrome |
|
Encephalocele, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:605627 |
| Hurler Syndrome |
|
Hydrocephalus |
OMIM:607014 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Hydrocephalus |
OMIM:616007 |
| Desmosterolosis |
|
Hydrocephalus, Ventriculomegaly |
OMIM:602398 |
| Mucopolysaccharidosis, Type Vii |
|
Hydrocephalus |
OMIM:253220 |
| Short-Rib Thoracic Dysplasia 12 |
|
Hydrocephalus, Anencephaly, Holoprosencephaly |
OMIM:269860 |
| 15Q Overgrowth Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:314585 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:259720 |
| Incontinentia Pigmenti |
|
Finger syndactyly, Camptodactyly of finger, Abnormal hand morphology, Absent hand, Deviation of f... |
ORPHA:464 |
| Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... |
OMIM:610828 |
| Monosomy 18Q |
|
Hydrocephalus |
ORPHA:1600 |
| Simpson-Golabi-Behmel Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Toe syndactyly, Camptodactyly of finger, Short 2nd... |
ORPHA:373 |
| Jacobsen Syndrome |
|
Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Short toe, Hip dislocation, Hand polydac... |
ORPHA:2308 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation |
OMIM:619575 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Hydrocephalus |
OMIM:245600 |
| Hereditary Acrokeratotic Poikiloderma |
|
Finger syndactyly, Camptodactyly of finger, Palmoplantar hyperkeratosis, Abnormal hip bone morpho... |
ORPHA:2907 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:228308 |
| Ciliary Dyskinesia, Primary, 1 |
|
Communicating hydrocephalus |
OMIM:244400 |
| Cole-Carpenter Syndrome |
|
Communicating hydrocephalus |
ORPHA:2050 |
| Neurocardiofaciodigital Syndrome |
|
Syndactyly, Patent ductus arteriosus, Polydactyly |
OMIM:619869 |
| Alexander Disease |
|
Aqueductal stenosis, Hydrocephalus |
ORPHA:58 |
| Robinow Syndrome |
|
Syndactyly, Brachydactyly, Bifid distal phalanx of the thumb, Mesomelic arm shortening, Radioulna... |
ORPHA:97360 |
| Gaucher Disease, Type Iiic |
|
Hydrocephalus |
OMIM:231005 |
| Dextrocardia |
|
Hydrocephalus |
ORPHA:1666 |
| Achondroplasia |
|
Hydrocephalus |
OMIM:100800 |
| Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Clinodactyly of the 5th finger, Finger syndactyly, Talipes equinovarus, 2-3 toe syndactyly |
OMIM:620025 |
| Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Myelomeningocele, Hydrocephalus |
ORPHA:90652 |
| Osteootohepatoenteric Syndrome |
|
Hydrocephalus |
OMIM:619377 |
| Holoprosencephaly |
|
Encephalocele, Hydrocephalus, Spinal dysraphism, Holoprosencephaly, Dandy-Walker malformation |
ORPHA:2162 |
| Cardiofaciocutaneous Syndrome |
|
Hydrocephalus |
ORPHA:1340 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Hydrocephalus |
OMIM:101800 |
| Cousin Syndrome |
|
Hydranencephaly, Hydrocephalus |
OMIM:260660 |
| Yunis-Varon Syndrome |
|
Congenital hip dislocation, Single transverse palmar crease, Short metatarsal, Palmoplantar hyper... |
OMIM:216340 |
| Medulloblastoma |
|
Hydrocephalus |
ORPHA:616 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Hydrocephalus |
ORPHA:157 |
| Loeys-Dietz Syndrome 2 |
|
Syndactyly, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Patent ductus arteriosus,... |
OMIM:610168 |
| Hypoplasminogenemia |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:722 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Hydrocephalus |
OMIM:182212 |
| Dubowitz Syndrome |
|
Clinodactyly of the 5th finger, Syndactyly, Single transverse palmar crease |
OMIM:223370 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Hydrocephalus |
ORPHA:220295 |
| Mucopolysaccharidosis Type 1 |
|
Hydrocephalus |
ORPHA:579 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Clinodactyly of the 5th finger, Syndactyly, Hip dysplasia, Patent ductus arteriosus |
OMIM:616975 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Hydrocephalus, Holoprosencephaly |
ORPHA:2166 |
| Coccidioidomycosis |
|
CSF pleocytosis, Hydrocephalus, CSF lymphocytic pleiocytosis, Hypoglycorrhachia, Increased CSF pr... |
ORPHA:228123 |
| 7Q11.23 Microduplication Syndrome |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:96121 |
| Monosomy 9Q22.3 |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:77301 |
| Specc1L-Related Hypertelorism Syndrome |
|
Finger syndactyly, Short toe, Patent ductus arteriosus, Clinodactyly of the 5th finger, Brachydac... |
ORPHA:1519 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:612301 |
| H Syndrome |
|
Hydrocephalus |
ORPHA:168569 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Hydrocephalus |
OMIM:618162 |
| 1Q21.1 Microdeletion Syndrome |
|
Hydrocephalus |
ORPHA:250989 |
| Hurler Syndrome |
|
Hydrocephalus |
ORPHA:93473 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Aqueductal stenosis, Hydrocephalus |
OMIM:619512 |
| Dubowitz Syndrome |
|
Hydrocephalus, Spina bifida occulta |
ORPHA:235 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Hydrocephalus |
OMIM:277400 |
| Roberts-Sc Phocomelia Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi... |
OMIM:268300 |
| Hyperparathyroidism, Transient Neonatal |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618188 |
| Marshall-Smith Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:602535 |
| Scalp-Ear-Nipple Syndrome |
|
Finger syndactyly, 3-4 finger cutaneous syndactyly, 2-3 toe syndactyly, Clinodactyly of the 5th f... |
OMIM:181270 |
| Sturge-Weber Syndrome |
|
Hydrocephalus |
ORPHA:3205 |
| Jacobsen Syndrome |
|
Hydrocephalus, Holoprosencephaly |
OMIM:147791 |
| Stromme Syndrome |
|
Hydrocephalus |
OMIM:243605 |
| Aymé-Gripp Syndrome |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:1272 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Palmoplantar keratoderma |
ORPHA:1071 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Hydrocephalus |
ORPHA:536467 |
| Raine Syndrome |
|
Hydrocephalus |
OMIM:259775 |
| Orofaciodigital Syndrome Type 4 |
|
Finger syndactyly, Camptodactyly of finger, Micromelia, Preaxial hand polydactyly, Postaxial hand... |
ORPHA:2753 |
| Mucopolysaccharidosis Type 3 |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:581 |
| Basal Cell Nevus Syndrome 1 |
|
Hydrocephalus, Spina bifida |
OMIM:109400 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Hydrocephalus |
ORPHA:505248 |
| Knobloch Syndrome |
|
Occipital encephalocele, Hydrocephalus |
ORPHA:1571 |
| Isotretinoin-Like Syndrome |
|
Hydrocephalus |
ORPHA:2306 |
| Peters-Plus Syndrome |
|
Syndactyly, Short metacarpal, Rhizomelia, Single transverse palmar crease, Limited elbow movement... |
OMIM:261540 |
| Mycophenolate Mofetil Embryopathy |
|
Hydrocephalus |
ORPHA:268249 |
| Hartsfield Syndrome |
|
Syndactyly, Ectrodactyly |
OMIM:615465 |
| Thakker-Donnai Syndrome |
|
Communicating hydrocephalus |
ORPHA:1780 |
| Neurooculorenal Syndrome |
|
Aqueductal stenosis, Hydrocephalus, Ventriculomegaly |
OMIM:620305 |
| Mucopolysaccharidosis, Type Vi |
|
Cervical myelopathy, Hydrocephalus |
OMIM:253200 |
| Meckel Syndrome |
|
Encephalocele, Hydrocephalus, Anencephaly, Lobar holoprosencephaly, Dandy-Walker malformation |
ORPHA:564 |
| Osteopathia Striata With Cranial Sclerosis |
|
Hydrocephalus, Spina bifida occulta |
OMIM:300373 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Communicating hydrocephalus, Hypoglycorrhachia |
ORPHA:168577 |
| Degcags Syndrome |
|
Syndactyly, Toe syndactyly, Short thumb, Preaxial hand polydactyly, Patent ductus arteriosus, Gen... |
OMIM:619488 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:457284 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Communicating hydrocephalus |
OMIM:616084 |
| Neurofibromatosis, Type I |
|
Aqueductal stenosis, Hydrocephalus, Spina bifida |
OMIM:162200 |
| Kindler Epidermolysis Bullosa |
|
Finger syndactyly, Camptodactyly of finger, Palmoplantar keratoderma, Short 4th metacarpal, Short... |
ORPHA:2908 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hydrocephalus, Colpocephaly |
OMIM:309801 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Syndactyly, Broad hallux, Deviation of the hallux, Avascular necrosis of the capital femoral epip... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Syndactyly, Broad hallux, Deviation of the hallux, Avascular necrosis of the capital femoral epip... |
ORPHA:353277 |
| Shprintzen-Goldberg Syndrome |
|
Communicating hydrocephalus, Ventriculomegaly |
ORPHA:2462 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Hydrocephalus |
ORPHA:79282 |
| Fraser Syndrome 2 |
|
Cutaneous syndactyly |
OMIM:617666 |
| Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Hydrocephalus |
ORPHA:91350 |
| Limb Body Wall Complex |
|
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta |
ORPHA:2369 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hydrocephalus, Ventriculomegaly, Spina bifida |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Hydrocephalus, Ventriculomegaly, Spina bifida |
ORPHA:363958 |
| Kabuki Syndrome |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:2322 |
| Capillary Malformation-Arteriovenous Malformation |
|
Hydrocephalus |
ORPHA:137667 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Syndactyly, Short metacarpal, Scapular winging, Single transverse palmar crease, Coxa valga, Avas... |
OMIM:150230 |
| Trisomy 8P |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:264450 |
| Acrofacial Dysostosis 1, Nager Type |
|
Aqueductal stenosis, Hydrocephalus |
OMIM:154400 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Hydrocephalus |
ORPHA:95699 |
| Fanconi Anemia, Complementation Group L |
|
Hydrocephalus |
OMIM:614083 |
| Craniopharyngioma |
|
Hydrocephalus |
ORPHA:54595 |
| Fanconi Anemia, Complementation Group D2 |
|
Hydrocephalus |
OMIM:227646 |
| Doors Syndrome |
|
Aplasia/Hypoplasia of the phalanges of the 2nd toe, Abnormal toe morphology, Abnormal finger morp... |
ORPHA:79500 |
| Microphthalmia, Syndromic 6 |
|
Finger syndactyly, Thumb contracture, Toe syndactyly, Single transverse palmar crease, Abnormalit... |
OMIM:607932 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Hydrocephalus, Decreased CSF 5-methyltetrahydrofolate concentration, Ventriculomegaly |
OMIM:619475 |
| Mend Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:401973 |
| Mend Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:300960 |
| 22Q11.2 Deletion Syndrome |
|
Hydrocephalus, Meningocele, Spina bifida, Occipital myelomeningocele |
ORPHA:567 |
| Cryptococcosis |
|
Hydrocephalus |
ORPHA:1546 |
| Hajdu-Cheney Syndrome |
|
Hydrocephalus |
ORPHA:955 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hydrocephalus |
ORPHA:163979 |
| Smith-Lemli-Opitz Syndrome |
|
Colpocephaly, Hydrocephalus, Holoprosencephaly, Dandy-Walker malformation |
OMIM:270400 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hydrocephalus |
OMIM:261740 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Aqueductal stenosis, Myelomeningocele, Hydrocephalus |
OMIM:306955 |
| Marden-Walker Syndrome |
|
Hydrocephalus |
ORPHA:2461 |
| Histiocytoid Cardiomyopathy |
|
Hydrocephalus |
ORPHA:137675 |
| Full Nf2-Related Schwannomatosis |
|
Myelopathy, Hydrocephalus |
ORPHA:637 |
| Fontaine Progeroid Syndrome |
|
Syndactyly, Patent ductus arteriosus, Deep palmar crease, Absent distal phalanges, Short distal p... |
OMIM:612289 |
| Hajdu-Cheney Syndrome |
|
Hydrocephalus |
OMIM:102500 |
| Proteus Syndrome |
|
Hallux valgus, Finger syndactyly, Macrodactyly, Metatarsus valgus, Hip dislocation, Abnormal fing... |
ORPHA:744 |
| Campomelic Dysplasia |
|
Hydrocephalus, Spina bifida, Spinal dysraphism |
OMIM:114290 |
| Hennekam Syndrome |
|
Finger syndactyly, Camptodactyly of finger |
ORPHA:2136 |
| Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:617011 |
| Holoprosencephaly 9 |
|
Hydrocephalus, Holoprosencephaly |
OMIM:610829 |
| Osteogenesis Imperfecta |
|
Hydrocephalus, Noncommunicating hydrocephalus, Ventriculomegaly |
ORPHA:666 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Syndactyly |
OMIM:618820 |
| Alpha-Mannosidosis, Infantile Form |
|
Communicating hydrocephalus |
ORPHA:309282 |
| Distal 22Q11.2 Microduplication Syndrome |
|
Hydrocephalus |
ORPHA:261337 |
| Lymphangioleiomyomatosis |
|
Hydrocephalus |
ORPHA:538 |
| Meningioma |
|
Hydrocephalus |
ORPHA:2495 |
| Coffin-Siris Syndrome 12 |
|
Short thumb, Slender finger, Cutaneous syndactyly, Radioulnar synostosis, Broad thumb, Hip sublux... |
OMIM:619325 |
| Gaucher Disease |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:355 |
| Pseudoaminopterin Syndrome |
|
Hydrocephalus |
ORPHA:221120 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:2072 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Colpocephaly, Hydrocephalus, Lateral ventricle dilatation |
OMIM:210710 |
| Fraser Syndrome 1 |
|
Encephalocele, Myelomeningocele, Hydrocephalus |
OMIM:219000 |
| Cockayne Syndrome A |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:216400 |
| Split Cord Malformation |
|
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus |
ORPHA:573278 |
| Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Communicating hydrocephalus, Ventriculomegaly |
ORPHA:457359 |
| Costello Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:218040 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:253280 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Hydrocephalus |
ORPHA:2556 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Hydrocephalus |
ORPHA:667 |
| Alobar Holoprosencephaly |
|
Neural tube defect, Hydrocephalus |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Neural tube defect, Hydrocephalus |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Neural tube defect, Hydrocephalus |
ORPHA:93924 |
| Semilobar Holoprosencephaly |
|
Neural tube defect, Hydrocephalus |
ORPHA:220386 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Long fingers, Toe clinodactyly, Sandal gap, Cutaneous syndactyly |
OMIM:620330 |
| Oeis Complex |
|
Myelomeningocele, Hydrocephalus |
OMIM:258040 |
| Cockayne Syndrome B |
|
Normal pressure hydrocephalus |
OMIM:133540 |
| Tetraamelia Syndrome 1 |
|
Hydrocephalus |
OMIM:273395 |
| Wiedemann-Rautenstrauch Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:264090 |
| Wolf-Hirschhorn Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:194190 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Hydrocephalus |
OMIM:619321 |
| Focal Dermal Hypoplasia |
|
Hydrocephalus, Spina bifida occulta, Myelomeningocele |
OMIM:305600 |
| Tetrasomy 9P |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:3310 |
| Loeys-Dietz Syndrome 1 |
|
Hydrocephalus |
OMIM:609192 |
| Neurofibromatosis Type 1 |
|
Hydrocephalus |
ORPHA:636 |
| Baller-Gerold Syndrome |
|
Hydrocephalus, Spina bifida occulta |
OMIM:218600 |
| Fetal Akinesia Deformation Sequence 1 |
|
Hydrocephalus |
OMIM:208150 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Communicating hydrocephalus, Mild fetal ventriculomegaly |
OMIM:619841 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Hallux valgus, Syndactyly, Long toe, Ulnar deviation of the hand, Broad hallux, Arachnodactyly, C... |
ORPHA:261537 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:607872 |
| Peters Plus Syndrome |
|
Hydrocephalus, Spina bifida occulta, Ventriculomegaly |
ORPHA:709 |
| Microphthalmia, Syndromic 1 |
|
Syndactyly, Abnormal palmar dermatoglyphics, Down-sloping shoulders, Short clavicles, Radial devi... |
OMIM:309800 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Syndactyly, Postaxial polydactyly, Patent ductus arteriosus, Broad first metatarsal, Polydactyly,... |
OMIM:619534 |
| Tuberous Sclerosis Complex |
|
Noncommunicating hydrocephalus, Subependymal nodules |
ORPHA:805 |
| Fraser Syndrome |
|
Finger syndactyly, Toe syndactyly, Wide pubic symphysis |
ORPHA:2052 |
| Mowat-Wilson Syndrome |
|
Hallux valgus, Syndactyly, Long toe, Ulnar deviation of the hand, Broad hallux, Tapered finger, P... |
ORPHA:2152 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Hallux valgus, Syndactyly, Long toe, Ulnar deviation of the hand, Broad hallux, Arachnodactyly, P... |
ORPHA:261552 |
| Mucopolysaccharidosis Type 2 |
|
Communicating hydrocephalus |
ORPHA:580 |
| Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hydrocephalus |
ORPHA:3042 |
| Kabuki Syndrome 1 |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:147920 |
| Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Hydrocephalus |
ORPHA:363700 |
| Wiedemann-Rautenstrauch Syndrome |
|
Hydrocephalus |
ORPHA:3455 |
| Otopalatodigital Syndrome, Type Ii |
|
Hydrocephalus, Spina bifida |
OMIM:304120 |
| Exstrophy-Epispadias Complex |
|
Hydrocephalus, Spina bifida |
ORPHA:322 |
| Hydrolethalus Syndrome 1 |
|
Dandy-Walker malformation, Anencephaly, Severe hydrocephalus |
OMIM:236680 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hydrocephalus |
OMIM:312870 |
| Townes-Brocks Syndrome 1 |
|
Hydrocephalus, Holoprosencephaly |
OMIM:107480 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hydrocephalus |
OMIM:175780 |
| Craniofacial Microsomia 1 |
|
Occipital encephalocele, Hydrocephalus |
OMIM:164210 |
