| Guillain-Barre Syndrome, Familial |
|
Acute demyelinating polyneuropathy |
OMIM:139393 |
| Neuropathy, Hereditary Sensory, X-Linked |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:310470 |
| Slowed Nerve Conduction Velocity, Autosomal Dominant |
|
Onion bulb formation, Peripheral demyelination, Decreased nerve conduction velocity |
OMIM:608236 |
| Microcephaly 24, Primary, Autosomal Recessive |
|
Clinodactyly of the 5th finger, Cerebellar vermis hypoplasia, Primary microcephaly |
OMIM:618179 |
| Spinal Muscular Atrophy With Mental Retardation |
|
Syndactyly, Microcephaly |
OMIM:271109 |
| Syndactyly Type 1 |
|
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly |
ORPHA:93402 |
| Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7 |
|
Attention deficit hyperactivity disorder, Depression |
OMIM:613003 |
| Syndactyly, Type Iii |
|
4-5 finger syndactyly, Syndactyly, Short 5th finger, Absent middle phalanx of 5th finger |
OMIM:186100 |
| Brachmann-De Lange-Like Facial Changes With Microcephaly, Metatarsus Adductus, And Developmental Delay |
|
Microcephaly, Unusual dermatoglyphics, Metatarsus adductus |
OMIM:112370 |
| Teratocarcinoma-Derived growth factor 1 |
|
Hypoplasia of the corpus callosum, Absent septum pellucidum, Microcephaly |
OMIM:187395 |
| Polydactyly, Preaxial Ii |
|
Preaxial hand polydactyly, Preaxial foot polydactyly, Complete duplication of distal phalanx of t... |
OMIM:174500 |
| Cri du Chat Syndrome (5p deletion) |
|
Microcephaly |
DECIPHER:2 |
| 1q21.1 recurrent microdeletion (susceptibility locus for neurodevelopmental disorders) |
|
Microcephaly |
DECIPHER:62 |
| Intellectual Developmental Disorder, Autosomal Recessive 7 |
|
Microcephaly |
OMIM:611093 |
| Microcephaly 18, Primary, Autosomal Dominant |
|
Microcephaly |
OMIM:617520 |
| Synpolydactyly 1 |
|
Finger syndactyly, Short middle phalanx of the 5th finger, Preaxial foot polydactyly, Clinodactyl... |
OMIM:186000 |
| Hallux Varus And Preaxial Polysyndactyly |
|
Broad hallux, Syndactyly, Preaxial hand polydactyly, Hallux varus |
OMIM:234280 |
| Syndactyly Type 2 |
|
Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, S... |
ORPHA:93403 |
| Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Leukodystrophy, Peripheral demyelination |
DECIPHER:59 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Segmental periphera... |
OMIM:606482 |
| Polyradiculoneuropathy Associated With Igg/Iga/Igm Monoclonal Gammopathy Without Known Antibodies |
|
Symmetrical progressive peripheral demyelination, Demyelinating motor neuropathy, Demyelinating s... |
ORPHA:208981 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Polydactyly, Postaxial, Type A5 |
|
Postaxial hand polydactyly, Syndactyly, Metacarpal synostosis, Cutaneous finger syndactyly |
OMIM:263450 |
| Syndactyly, Type Iv |
|
Triphalangeal thumb, 2-3 toe syndactyly, Polydactyly, Supernumerary metacarpal bones, 1-5 finger ... |
OMIM:186200 |
| Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
2-4 toe syndactyly, Syndactyly, Microcephaly |
OMIM:241000 |
| Syndactyly Type 3 |
|
Camptodactyly of finger, Short toe, Finger syndactyly |
ORPHA:93404 |
| Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Reduced proximal interphalangeal joint space, Abnormal palmar dermatoglyphics, Finger syndactyly,... |
ORPHA:3246 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Decreased motor ner... |
OMIM:607734 |
| Methionine Adenosyltransferase I/Iii Deficiency |
|
CNS demyelination, Peripheral demyelination |
OMIM:250850 |
| Polydactyly, Preaxial Iv |
|
1-5 toe syndactyly, Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, ... |
OMIM:174700 |
| Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
|
Abnormality of the upper limb, Finger syndactyly, Clinodactyly of the 5th finger, Bilateral singl... |
ORPHA:1891 |
| Intellectual Developmental Disorder, Autosomal Recessive 33 |
|
Syndactyly, Short toe |
OMIM:614341 |
| Polydactyly, Postaxial, Type A1 |
|
Triphalangeal thumb, Syndactyly, Broad thumb, Preaxial polydactyly, Postaxial hand polydactyly |
OMIM:174200 |
| Syndactyly Type 5 |
|
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Clinodactyly of the 5th f... |
ORPHA:93406 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Thick corpus callosum, Macrocephaly, Syndactyly, Megalencephaly, Postaxial hand polydactyly, Poly... |
OMIM:615938 |
| Acropectoral Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
| Spastic Paraplegia With Neuropathy And Poikiloderma |
|
Onion bulb formation, Demyelinating motor neuropathy, Demyelinating sensory neuropathy |
OMIM:182815 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Brachydactyly, Type A2, With Microcephaly |
|
Type A2 brachydactyly, Thumbs hypoplastic with bulbous tips, Microcephaly, Absent middle phalanx ... |
OMIM:211369 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate D |
|
Axonal degeneration/regeneration, Segmental peripheral demyelination/remyelination |
OMIM:607791 |
| Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Cutaneous finger syndactyly, Duplication of metatarsal bones, Aplasia/Hypoplasia of toe, Syndacty... |
OMIM:600384 |
| Chromosome 2Q35 Duplication Syndrome |
|
2-3 toe syndactyly, 3-4 finger syndactyly, Distal symphalangism of hands, Cutaneous syndactyly |
OMIM:185900 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate D |
|
Onion bulb formation |
OMIM:616039 |
| Wahab Syndrome |
|
Short foot, Short metacarpal, Clinodactyly, Camptodactyly, Adducted thumb, Syndactyly, Short thum... |
OMIM:615170 |
| Charcot-Marie-Tooth Disease, Type 4A |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Hypertrophic nerve ... |
OMIM:214400 |
| Liebenberg Syndrome |
|
Abnormal carpal morphology, 2-3 finger syndactyly, Elbow flexion contracture, Radially deviated w... |
OMIM:186550 |
| Ectrodactyly-Polydactyly Syndrome |
|
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Ab... |
ORPHA:1892 |
| Brachydactyly-Syndactyly Syndrome |
|
Short phalanx of finger, Finger syndactyly, Short digit, Camptodactyly, Oligodactyly, Syndactyly,... |
OMIM:610713 |
| Split-Hand/Foot Malformation 4 |
|
Triphalangeal thumb, Aplasia/Hypoplasia involving the metacarpal bones, Aplasia/Hypoplasia of the... |
OMIM:605289 |
| Severe Primary Trimethylaminuria |
|
Aggressive behavior, Anxiety, Emotional lability, Low self esteem, Depression, Negative affectivity |
ORPHA:468726 |
| Pelizaeus-Merzbacher disease |
|
Leukodystrophy, Abnormal CNS myelination |
DECIPHER:38 |
| Congenital Radioulnar Synostosis |
|
Polydactyly, Limited elbow movement, Abnormal morphology of the radius, Radioulnar synostosis, Ab... |
ORPHA:3269 |
| Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
| Split-Hand/Foot Malformation 6 |
|
Finger syndactyly, Foot oligodactyly, Toe syndactyly, Hand oligodactyly, Split foot, Split hand |
OMIM:225300 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Gg |
|
Onion bulb formation, Axonal degeneration/regeneration, Segmental peripheral demyelination, Segme... |
OMIM:606483 |
| Gombo Syndrome |
|
Clinodactyly, Radial deviation of finger, Microcephaly, Brachydactyly |
OMIM:233270 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Hip dysplasia, Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis |
ORPHA:71289 |
| Intellectual Developmental Disorder, Autosomal Recessive 4 |
|
Delayed myelination |
OMIM:611107 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2L |
|
Decreased amplitude of sensory action potentials, Decreased number of large peripheral myelinated... |
OMIM:608673 |
| Microcephaly-Cardiomyopathy |
|
Clinodactyly of the 5th finger, Sandal gap, Microcephaly |
OMIM:251220 |
| Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Onion bulb formatio... |
OMIM:605253 |
| Brachydactyly, Type A2 |
|
2-3 toe syndactyly, Triangular shaped middle phalanx of the 2nd finger, Hallux valgus, Short midd... |
OMIM:112600 |
| Syndactyly Type 4 |
|
Triphalangeal thumb, Camptodactyly of finger, Short tibia, Foot polydactyly, Toe syndactyly, Hand... |
ORPHA:93405 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Decreased motor ner... |
OMIM:118210 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Roussy-Levy Hereditary Areflexic Dystasia |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Hypertrophic nerve ... |
OMIM:180800 |
| Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Toe syn... |
ORPHA:157801 |
| Brachydactyly Type A7 |
|
Broad distal phalanx of the thumb, 2-3 toe syndactyly, Short middle phalanx of the 5th toe, Hallu... |
ORPHA:93397 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
|
Onion bulb formation, Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Decr... |
OMIM:601098 |
| Syndactyly, Type V |
|
Camptodactyly of finger, Joint contracture of the hand, Cutaneous finger syndactyly, Carpal synos... |
OMIM:186300 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Hypertrophic nerve ... |
OMIM:118200 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Onion bulb formation, Decreased number of large peripheral myelinated nerve fibers, Peripheral de... |
OMIM:608340 |
| Split-Hand/Foot Malformation 2 |
|
Short phalanx of finger, Finger syndactyly, Short metacarpal, Split foot, Split hand |
OMIM:313350 |
| Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet |
|
Syndactyly, Split foot, Short finger, Hypoplasia of the ulna |
OMIM:314360 |
| Null Syndrome |
|
Abnormality of peripheral nerve conduction, Optic atrophy, Demyelinating peripheral neuropathy, D... |
ORPHA:280234 |
| Charcot-Marie-Tooth Disease, Type 4J |
|
Onion bulb formation, Axonal loss, Decreased motor nerve conduction velocity, Peripheral hypomyel... |
OMIM:611228 |
| Chronic Inflammatory Demyelinating Polyneuropathy |
|
Abnormal nerve conduction velocity, Motor conduction block, Decreased nerve conduction velocity, ... |
ORPHA:2932 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Chromosome 2Q31.1 Duplication Syndrome |
|
Triphalangeal thumb, Absent thumb, 3-4 finger cutaneous syndactyly, Short thumb, Talipes equinovarus |
OMIM:613681 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2I |
|
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration/regeneration |
OMIM:607677 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Hypertrophic nerve ... |
OMIM:118220 |
| Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction |
|
Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the middle phalanx of the 5th finger, Prox... |
OMIM:609432 |
| Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination |
OMIM:162500 |
| Metacarpal 4-5 Fusion |
|
4-5 metacarpal synostosis, 2-3 toe cutaneous syndactyly, Short 5th metacarpal, Clinodactyly of th... |
OMIM:309630 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Decreased motor ner... |
OMIM:614895 |
| Paraparetic Variant Of Guillain-Barré Syndrome |
|
Peripheral axonal neuropathy, Peripheral demyelination |
ORPHA:231445 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2H |
|
Decreased number of peripheral myelinated nerve fibers, Axonal regeneration |
OMIM:607731 |
| Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Split-Hand/Foot Malformation 1 |
|
Triphalangeal thumb, Foot oligodactyly, Clinodactyly, Broad hallux, Syndactyly, Hand oligodactyly... |
OMIM:183600 |
| Split-Foot Malformation-Mesoaxial Polydactyly Syndrome |
|
Mesoaxial foot polydactyly, 1-2 toe syndactyly, 4-5 toe syndactyly, Aplasia/Hypoplasia of the pha... |
ORPHA:488232 |
| Brachydactyly-Syndactyly, Zhao Type |
|
Symphalangism affecting the phalanges of the hand, Short 5th metacarpal, Hallux valgus, Short mid... |
ORPHA:93409 |
| Heart-Hand Syndrome, Slovenian Type |
|
Syndactyly, Clinodactyly, Aplasia of the middle phalanx of the hand, Brachydactyly |
OMIM:610140 |
| Split-Foot Malformation With Mesoaxial Polydactyly |
|
1-2 toe syndactyly, Split foot, Split hand, 4-5 toe syndactyly, Mesoaxial hand polydactyly |
OMIM:616890 |
| Syndactyly-Polydactyly-Earlobe Syndrome |
|
Preaxial hand polydactyly, Preaxial foot polydactyly, Bifid distal phalanx of toe, Broad toe, 1-2... |
OMIM:186350 |
| Brachydactyly Type B2 |
|
Short toe, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Synostosis of ca... |
ORPHA:140908 |
| Brachydactyly Type B |
|
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Short metacarpal, Synostosi... |
ORPHA:93383 |
| Santos Syndrome |
|
Polydactyly, Genu valgum, Talipes equinovarus, Oligodactyly, Metatarsus adductus, Syndactyly, Pre... |
OMIM:613005 |
| Aphalangy-Syndactyly-Microcephaly Syndrome |
|
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Toe syndactyly, Abnor... |
ORPHA:1113 |
| Feingold Syndrome 2 |
|
2-3 toe syndactyly, Short middle phalanx of the 5th finger, Short middle phalanx of the 2nd finge... |
OMIM:614326 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate F |
|
Axonal regeneration, Onion bulb formation, Peripheral demyelination |
OMIM:615185 |
| Metaphyseal Anadysplasia |
|
Abnormal ulnar metaphysis morphology, Abnormal morphology of ulna, Aplasia/Hypoplasia of the radi... |
ORPHA:1040 |
| Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Hypertrophic nerve ... |
OMIM:145900 |
| Intellectual Developmental Disorder, Autosomal Recessive 2 |
|
Attention deficit hyperactivity disorder, Self-injurious behavior |
OMIM:607417 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Decreased motor ner... |
OMIM:605588 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Decreased nerve conduction velocity, Peripheral demyelination |
ORPHA:99944 |
| Acute Inflammatory Demyelinating Polyradiculoneuropathy |
|
Acute demyelinating polyneuropathy, Onion bulb formation |
ORPHA:98916 |
| Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Peripheral axonal d... |
OMIM:607706 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Motor conduction block, Diffuse peripheral demyelination, Axonal loss, Decreased motor nerve cond... |
ORPHA:206594 |
| Jawad Syndrome |
|
Absent fourth finger distal interphalangeal crease, Hallux valgus, Short middle phalanx of the 5t... |
OMIM:251255 |
| Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Onion bulb formation, Optic atrophy, Segmental peripheral demyelination/remyelination |
OMIM:311070 |
| Obsessive-Compulsive Disorder |
|
Skin-picking, Depression, Anxiety |
OMIM:164230 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Abnormality of the elbow, Finger syndactyly, Clinodactyly of the 5th finger, Radioulnar synostosi... |
ORPHA:3268 |
| Charcot-Marie-Tooth Disease, Type 4H |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:609311 |
| Smith-Magenis syndrome |
|
Hyperactivity, Self-mutilation |
DECIPHER:8 |
| Crossed Polysyndactyly |
|
Postaxial hand polydactyly, Aplasia/Hypoplasia of the thumb, Finger syndactyly |
ORPHA:2935 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Irregular myelin loops, Myelin outfoldings, Facial palsy |
OMIM:601382 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Anxiety |
OMIM:619031 |
| Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Decreased motor nerve conduction velocity, Onion bulb formation, Peripheral axonal neuropathy |
OMIM:610100 |
| Autosomal Recessive Spastic Paraplegia Type 71 |
|
Abnormal myelination |
ORPHA:401840 |
| Multiple Synostoses Syndrome 3 |
|
Humeroradial synostosis, Cutaneous syndactyly of toes, Metatarsal synostosis, Broad hallux, Metac... |
OMIM:612961 |
| 46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:607080 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Segmental peripheral demyelination, Peripheral axonal degeneration, Decreased motor nerve conduct... |
OMIM:601596 |
| Adams-Oliver Syndrome 3 |
|
Short 5th toe, 2-3 toe syndactyly, Short metatarsal, Microcephaly, Absent toe, Short distal phala... |
OMIM:614814 |
| Feingold Syndrome Type 2 |
|
Toe syndactyly, Microcephaly, Brachydactyly, Short thumb, Short middle phalanx of finger |
ORPHA:391646 |
| 15Q11Q13 Microduplication Syndrome |
|
Macrocephaly, Clinodactyly of the 5th finger, Finger syndactyly |
ORPHA:238446 |
| Polydactyly, Postaxial, Type A7 |
|
Postaxial hand polydactyly, 2-3 toe cutaneous syndactyly, Short fifth metatarsal, Postaxial foot ... |
OMIM:617642 |
| Metachromatic Leukodystrophy Due To Saposin B Deficiency |
|
Decreased nerve conduction velocity, Peripheral demyelination, CNS demyelination |
OMIM:249900 |
| Charcot-Marie-Tooth Disease, Type 4B2 |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:604563 |
| Charcot-Marie-Tooth Disease, Type 4K |
|
Peripheral demyelination, Axonal loss |
OMIM:616684 |
| Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Decreased motor nerve conduction velocity, Axonal regeneration, Decreased number of large periphe... |
OMIM:605285 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity |
OMIM:300271 |
| Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Aggressive behavior |
OMIM:615493 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1G |
|
Onion bulb formation, Peripheral demyelination, Decreased compound muscle action potential amplitude |
OMIM:618279 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Onion bulb formation, Segmental peripheral demyelination/remyelination, Decreased nerve conductio... |
OMIM:601455 |
| Craniosynostosis, Philadelphia Type |
|
Finger syndactyly |
ORPHA:1527 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:356996 |
| Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Genu valgum, Clinodactyly, Macrocephaly, Spindle-shaped finger, Cerebral atrophy, Hypoplasia of t... |
ORPHA:166024 |
| Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome |
|
Joint contracture of the hand, 2-3 finger syndactyly, 2-4 finger syndactyly, Camptodactyly, 1-4 f... |
OMIM:225280 |
| Acropectorovertebral Dysplasia |
|
Bifid distal phalanx of the thumb, Finger syndactyly, Capitate-hamate fusion, Toe syndactyly, Syn... |
OMIM:102510 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2J |
|
Axonal degeneration/regeneration, Peripheral demyelination |
OMIM:607736 |
| Symbrachydactyly Of Hands And Feet |
|
Aplasia/Hypoplasia of the thumb, Abnormality of the humerus, Abnormal morphology of ulna, Aplasia... |
ORPHA:1570 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Optic atrophy, Decr... |
OMIM:609260 |
| Charcot-Marie-Tooth Disease Type 4G |
|
Motor conduction block, Decreased motor nerve conduction velocity, Demyelinating peripheral neuro... |
ORPHA:99953 |
| Femur-Fibula-Ulna Complex |
|
Abnormality of the elbow, Finger syndactyly, Humeroradial synostosis, Abnormal morphology of ulna... |
ORPHA:2019 |
| Dystonia 31 |
|
Abnormal posturing, Writer's cramp, Leg dystonia, Craniofacial dystonia, Difficulty walking, Arm ... |
OMIM:619565 |
| Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly |
OMIM:215850 |
| Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Chronic axonal neuropathy, Axonal loss, Peripheral axonal degeneration, Decreased number of small... |
ORPHA:101097 |
| Neuropathy, Congenital Hypomyelinating, 2 |
|
Facial diplegia, Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, De... |
OMIM:618184 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Short tibia, Foot oligodactyly, Hand oligodactyly, Syndactyly, Abnormality of the hand, Fibular a... |
OMIM:246570 |
| Proximal Symphalangism |
|
Camptodactyly of finger, Metacarpophalangeal synostosis, Finger syndactyly, Elbow ankylosis, Syno... |
ORPHA:3250 |
| Brachydactyly, Type B2 |
|
Absent phalangeal crease, Proximal symphalangism of hands, Aplasia/Hypoplasia of the middle phala... |
OMIM:611377 |
| Bardet-Biedl Syndrome 5 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615983 |
| Abetalipoproteinemia |
|
CNS demyelination, Peripheral demyelination |
OMIM:200100 |
| Fatco Syndrome |
|
Finger syndactyly, Tarsal synostosis, Abnormality of tibia morphology, Split hand, Abnormality of... |
ORPHA:2492 |
| Camptobrachydactyly |
|
Camptodactyly of finger, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Ulna... |
ORPHA:1319 |
| Robin Sequence-Oligodactyly Syndrome |
|
Hand oligodactyly, Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Abnormal morph... |
ORPHA:3104 |
| Léri-Weill Dyschondrosteosis |
|
Short tibia, Abnormal carpal morphology, Elbow dislocation, Madelung deformity, Abnormal metaphys... |
ORPHA:240 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Small for gestational age, Peripheral demyelination, Postnatal growth retardation, Intrauterine g... |
OMIM:616733 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Upper limb phocomelia, Polydactyly, Abnormal hip bone morphology, Syndactyly |
ORPHA:294975 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2W |
|
Impaired vibration sensation in the lower limbs, Somatic sensory dysfunction, Distal upper limb m... |
ORPHA:488333 |
| Greig Cephalopolysyndactyly Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly, Toe syndactyly, Preaxial foot polydactyly, Macrocep... |
ORPHA:380 |
| Synpolydactyly 2 |
|
Polydactyly, Toe syndactyly, Carpal synostosis, Metatarsal synostosis, Metacarpal synostosis, Tar... |
OMIM:608180 |
| Split hand/foot malformation 1 (SHFM1) |
|
2-3 toe syndactyly, Cutaneous finger syndactyly, Toe syndactyly, Split foot, Split hand |
DECIPHER:46 |
| Summitt Syndrome |
|
Syndactyly |
OMIM:272350 |
| Ring Chromosome 4 Syndrome |
|
Abnormal morphology of ulna, Abnormality of the upper limb, Aplasia/Hypoplasia of the radius, Spl... |
ORPHA:1447 |
| Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Abnormality of the humerus, Synostosis of carpal bones, Clinodactyly of the 5th finger, Abnormal ... |
ORPHA:1275 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Decreased number of peripheral myelinated nerve fibers, Axonal regeneration, Decreased motor nerv... |
OMIM:607831 |
| Heart-Hand Syndrome Type 2 |
|
Aplasia/Hypoplasia of the thumb, Short 4th metacarpal, Short 5th metacarpal, Abnormality of the e... |
ORPHA:1350 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Toe syndactyly, Aplasia/hypoplasia of the femur, Postaxial hand polydactyly, Talipes equinovarus,... |
OMIM:228930 |
| Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Syndactyly, Macrocephaly, Tapered finger, Clinodactyly of the 5th finger |
OMIM:618725 |
| Langer Mesomelic Dysplasia |
|
Aplasia/Hypoplasia of the fibula, Short femoral neck, Abnormal carpal morphology, Ulnar deviation... |
ORPHA:2632 |
| Hartnup Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder, Emotional lability |
OMIM:234500 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Short toe, Bifid distal phalanx of the thumb, Curved distal phalanx of the thumb, Triangular shap... |
ORPHA:370010 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Short tubular bones of the hand, Metaphyseal cupping of proximal phalanges, Metaphyseal irregular... |
ORPHA:174 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:600882 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate C |
|
Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ... |
OMIM:615376 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Peripheral demyelination, Gliosis, Axonal loss |
OMIM:221770 |
| Charcot-Marie-Tooth Disease Type 2B1 |
|
Decreased number of peripheral myelinated nerve fibers, Motor axonal neuropathy, Axonal loss, Dec... |
ORPHA:98856 |
| Krabbe Disease |
|
Optic atrophy, CNS demyelination, Failure to thrive, Decreased nerve conduction velocity, Periphe... |
OMIM:245200 |
| Developmental And Epileptic Encephalopathy 104 |
|
Hyperactivity, Self-injurious behavior, Agitation |
OMIM:619970 |
| Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Orthostatic hypotension due to autonomic dysfunction, Leukodystrophy, Symmetric peripheral demyel... |
OMIM:169500 |
| Autosomal Recessive Spastic Paraplegia Type 70 |
|
Abnormal myelination |
ORPHA:401835 |
| Laurin-Sandrow Syndrome |
|
Triphalangeal thumb, Patellar aplasia, Absent tibia, Hand polydactyly, Syndactyly, Absent radius,... |
OMIM:135750 |
| Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Aplasia/Hypoplasia of the fibula, Synostosis of carpal bones, Abnormal morphology of the radius, ... |
ORPHA:2639 |
| Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Peripheral hypomyelina... |
OMIM:604168 |
| Neuromyelitis Optica Spectrum Disorder |
|
Peripheral demyelination |
ORPHA:71211 |
| Ulna Metaphyseal Dysplasia Syndrome |
|
Abnormality of fibula morphology, Abnormal metacarpal morphology, Abnormal morphology of ulna, Ap... |
ORPHA:1837 |
| Spinocerebellar Ataxia Type 43 |
|
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy |
ORPHA:497764 |
| Fibular Aplasia-Ectrodactyly Syndrome |
|
Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, Split hand |
ORPHA:1118 |
| Leri-Weill Dyschondrosteosis |
|
Short tibia, Short toe, Coxa valga, Abnormal carpal morphology, Short 4th metacarpal, Limited elb... |
OMIM:127300 |
| Intellectual Developmental Disorder, Autosomal Dominant 4 |
|
Syndactyly, Short toe |
OMIM:612581 |
| Glycine Encephalopathy |
|
Hyperactivity, Aggressive behavior, Impulsivity, Irritability, Restlessness |
OMIM:605899 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Abnormality of the upper limb, Aplasia/Hypoplasia of the fibula, Finger syndactyly, Clinodactyly ... |
ORPHA:2141 |
| Weismann-Netter Syndrome |
|
Abnormality of the humerus, Femoral bowing, Squared iliac bones, Abnormality of tibia morphology,... |
ORPHA:3344 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities |
|
Clinodactyly, Syndactyly, Microcephaly, Pachygyria, Hypoplasia of the corpus callosum, Cerebral w... |
OMIM:619091 |
| Camptobrachydactyly |
|
Short toe, Congenital finger flexion contractures, Hand polydactyly, Syndactyly, Brachydactyly |
OMIM:114150 |
| Hypomelanosis Of Ito |
|
Clinodactyly, Hand polydactyly, Macrocephaly, Syndactyly, Radial deviation of finger, Microcephal... |
OMIM:300337 |
| Ulnar Hemimelia |
|
Sclerotic forearm bones, Aplasia of metacarpal bones, Humeroradial synostosis, Abnormal 3rd metac... |
ORPHA:93320 |
| Charcot-Marie-Tooth Disease Type 1B |
|
Peripheral dysmyelination, Decreased nerve conduction velocity, Peripheral axonal neuropathy |
ORPHA:101082 |
| Isolated Split Hand-Split Foot Malformation |
|
Split hand, Absent hand, Finger syndactyly, Oligodactyly |
ORPHA:2440 |
| Leukoencephalopathy-Palmoplantar Keratoderma Syndrome |
|
Decreased number of peripheral myelinated nerve fibers |
ORPHA:2386 |
| Split-Foot Deformity With Mandibulofacial Dysostosis |
|
Toe syndactyly, Split foot, Split hand |
OMIM:183700 |
| Acrorenal Syndrome |
|
Abnormal morphology of ulna, Abnormality of tibia morphology, Aplasia/Hypoplasia of the radius, S... |
ORPHA:971 |
| Pandas |
|
Abnormal fear/anxiety-related behavior, Separation insecurity, Emotional lability, Impulsivity, A... |
ORPHA:66624 |
| Spastic Paraplegia 55, Autosomal Recessive |
|
Onion bulb formation, Peripheral axonal neuropathy, Optic atrophy |
OMIM:615035 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Impulsivity, Hyperactivity, Aggressive behavior, Agitation |
OMIM:309548 |
| Acropectorovertebral Dysplasia |
|
Triphalangeal thumb, Camptodactyly of finger, Finger syndactyly, Synostosis of carpal bones, Broa... |
ORPHA:957 |
| Mesomelic Dysplasia, Nievergelt Type |
|
Camptodactyly of finger, Genu varum, Genu valgum, Finger syndactyly, Radioulnar synostosis, Clino... |
ORPHA:2633 |
| Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Decreased body weight, Peripheral demyelination, Axonal loss |
OMIM:617672 |
| Summitt Syndrome |
|
Camptodactyly of finger, Genu valgum, Short 4th metacarpal, Finger syndactyly, Macrocephaly, Clin... |
ORPHA:3210 |
| Boomerang Dysplasia |
|
Aplasia/Hypoplasia of the fibula, Finger syndactyly, Abnormality of the humerus, Abnormal morphol... |
ORPHA:1263 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Gliosis, Degeneratio... |
OMIM:604484 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Attention deficit hyperactivity disorder, Emotional lability |
OMIM:617028 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, Finger syndactyly, Patellar aplasia, ... |
ORPHA:3329 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Broad tibial metaphyses, Broad femoral head, Fibular bowing, Exostoses of the radius, Hypoplasia ... |
ORPHA:85188 |
| Multiple Epiphyseal Dysplasia Type 4 |
|
Elbow flexion contracture, Metatarsal synostosis, Abnormal forearm bone morphology, Flattened epi... |
ORPHA:93307 |
| Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Agitation |
ORPHA:100973 |
| Huntington Disease-Like 1 |
|
Gait ataxia, Chorea, Abnormal posturing, Delayed speech and language development, Gait disturbanc... |
ORPHA:157941 |
| Peroxisome Biogenesis Disorder 8B |
|
Failure to thrive, Leukodystrophy, Peripheral demyelination, Optic atrophy |
OMIM:614877 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Onion... |
OMIM:607684 |
| Gordon Syndrome |
|
Camptodactyly of finger, Clinodactyly of the 5th finger, Finger syndactyly |
ORPHA:376 |
| Charcot-Marie-Tooth Disease, Type 4B3 |
|
Onion bulb formation, Decreased nerve conduction velocity, Myelin outfoldings |
OMIM:615284 |
| Martsolf Syndrome 1 |
|
Short phalanx of finger, Short toe, Broad femoral neck, Avascular necrosis of the capital femoral... |
OMIM:212720 |
| Sclerosteosis |
|
2-3 finger syndactyly, Curved distal phalanges of the hand, Diaphyseal thickening, Finger syndactyly |
ORPHA:3152 |
| Brachydactyly, Type B1 |
|
Joint contracture of the hand, Short long bone, Cutaneous finger syndactyly, Camptodactyly, Synda... |
OMIM:113000 |
| Aminopterin Syndrome Sine Aminopterin |
|
Joint contracture of the hand, Clinodactyly, Macrocephaly, Brachydactyly, Syndactyly, Megalenceph... |
OMIM:600325 |
| Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Synostosis of carpal bones, Ulnar deviation of finger, Hypoplasia of the ulna, Elbow dislocation,... |
ORPHA:2634 |
| Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Aplasia/Hypoplasia of the fibula, Short 5th finger, Short foot, Brachydactyly, Postaxial oligodac... |
ORPHA:52056 |
| Carpenter Syndrome |
|
Polydactyly, Genu valgum, Finger syndactyly, Toe syndactyly, Preaxial foot polydactyly, Syndactyl... |
ORPHA:65759 |
| Trigeminal Neuralgia |
|
CNS demyelination, Peripheral demyelination, Cranial nerve compression |
ORPHA:221091 |
| Phenylketonuria |
|
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Depression, Anxiety... |
OMIM:261600 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Short tibia, Short toe, Short phalanx of finger, Absent toe, Short metacarpal, Finger symphalangi... |
OMIM:612576 |
| Autosomal Recessive Spastic Paraplegia Type 69 |
|
Abnormal myelination |
ORPHA:401830 |
| Fibular Hemimelia |
|
Short tibia, Hip subluxation, Hypoplastic acetabulae, Toe syndactyly, Short femur, Difficulty wal... |
ORPHA:93323 |
| Autosomal Recessive Spastic Paraplegia Type 57 |
|
Abnormal myelination |
ORPHA:431329 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Syndactyly, Clinodactyly, Brachydactyly |
OMIM:610023 |
| Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome |
|
Demyelinating peripheral neuropathy, Basal lamina onion bulb formation |
ORPHA:2821 |
| Pseudoachondroplasia |
|
Short phalanx of finger, Irregular carpal bones, Limited elbow extension, Delayed epiphyseal ossi... |
OMIM:177170 |
| Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity, Aggressive behavior |
OMIM:248510 |
| Autosomal Recessive Spastic Paraplegia Type 67 |
|
Abnormal myelination |
ORPHA:401820 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Genu varum, Metaphyseal cupping, Coxa vara, Radial bowing, Flared iliac wing, Ulnar bowing, Femor... |
OMIM:602111 |
| Monosomy 5P |
|
Finger syndactyly, Small hand, Microcephaly |
ORPHA:281 |
| Bardet-Biedl Syndrome 4 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615982 |
| Hyperprolinemia, Type I |
|
Hyperactivity, Aggressive behavior |
OMIM:239500 |
| Tangier Disease |
|
Facial diplegia, Peripheral axonal neuropathy, Peripheral demyelination |
OMIM:205400 |
| Nevus Comedonicus Syndrome |
|
Toe syndactyly, Preaxial polydactyly, Finger syndactyly, Microcephaly |
ORPHA:64754 |
| Periventricular Nodular Heterotopia 1 |
|
Cerebellar hypoplasia, Thin corpus callosum, Short finger, Clinodactyly, Syndactyly, Hypoplasia o... |
OMIM:300049 |
| Charlie M Syndrome |
|
Triphalangeal thumb, Finger syndactyly, Abnormal metacarpal morphology, Split hand, Brachydactyly |
ORPHA:1406 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Onion bulb formation, Axonal loss |
OMIM:614455 |
| Posterior Column Ataxia With Retinitis Pigmentosa |
|
Decreased sensory nerve conduction velocity, Peripheral demyelination, Optic atrophy |
OMIM:609033 |
| Laurin-Sandrow Syndrome |
|
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Limb duplication... |
ORPHA:2378 |
| Ritscher-Schinzel Syndrome 2 |
|
Cerebellar hypoplasia, Clinodactyly, Camptodactyly, Macrocephaly, Overlapping toe, Broad hallux, ... |
OMIM:300963 |
| Lipodystrophy-Intellectual Disability-Deafness Syndrome |
|
Dense metaphyseal bands, Slender long bones with narrow diaphyses |
ORPHA:50811 |
| Developmental And Epileptic Encephalopathy 43 |
|
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
| Spinocerebellar Ataxia Type 25 |
|
Decreased number of large peripheral myelinated nerve fibers |
ORPHA:101111 |
| Joubert Syndrome 33 |
|
Syndactyly, Macrocephaly |
OMIM:617767 |
| Mohr-Tranebjaerg Syndrome |
|
Abnormal posturing, Tremor, Dystonia, Intrinsic hand muscle atrophy |
OMIM:304700 |
| Molybdenum Cofactor Deficiency, Complementation Group B |
|
Axonal loss, Growth delay, Gliosis, Neonatal death, Peripheral demyelination |
OMIM:252160 |
| Holt-Oram Syndrome |
|
Triphalangeal thumb, Absent thumb, Abnormal carpal morphology, Hypoplasia of the radius, Aplasia ... |
OMIM:142900 |
| Greig Cephalopolysyndactyly Syndrome |
|
Preaxial hand polydactyly, Joint contracture of the hand, Preaxial foot polydactyly, Camptodactyl... |
OMIM:175700 |
| Limb-Mammary Syndrome |
|
Hallux valgus, Joint contracture of the hand, Camptodactyly, Syndactyly, Split foot, Split hand |
OMIM:603543 |
| Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Abnormal morphology of ulna, Abnormal metacarpal morphology |
ORPHA:2233 |
| Gollop-Wolfgang Complex |
|
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia ... |
ORPHA:1986 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:615490 |
| Langer Mesomelic Dysplasia |
|
Short tibia, Broad ulna, Short femoral neck, Hypoplasia of the radius, Radial bowing, Hypoplasia ... |
OMIM:249700 |
| Lennox-Gastaut Syndrome |
|
Hyperactivity, Aggressive behavior, Personality disorder |
ORPHA:2382 |
| Acrodysostosis |
|
Short toe, Short metacarpal, Hypoplasia of the radius, Epiphyseal stippling, Abnormal morphology ... |
ORPHA:950 |
| Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Aggressive behavior, Anxiety |
OMIM:609425 |
| Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Camptodactyly of finger, Triphalangeal thumb, Finger syndactyly, Short thumb, Palmoplantar kerato... |
ORPHA:2251 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Bipolar affective disorder |
OMIM:619927 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Inappropriate behavior, Hyperactivity, Aggressive behavior, Self-injurious behavior, Self-biting,... |
OMIM:619827 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Abnormal posturing, Blepharospasm, Inability to walk, Writer's cramp, Torticollis, Torsion dyston... |
OMIM:128100 |
| Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Genu valgum, Short femoral neck, Slender long bones with narrow diaphyses, Metaphyseal striations... |
OMIM:608154 |
| Leukodystrophy, Hypomyelinating, 5 |
|
Decreased motor nerve conduction velocity, Leukodystrophy, Onion bulb formation, CNS hypomyelination |
OMIM:610532 |
| Endove Syndrome, Limb-Only Type |
|
Aplasia of the distal phalanges of the toes, Disproportionate shortening of the tibia, Cutaneous ... |
OMIM:619217 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Abnormal posturing, Tip-toe gait, Inability to walk, Optic disc pallor, Gait disturbance, Opistho... |
ORPHA:216866 |
| Terminal Osseous Dysplasia |
|
Camptodactyly of finger, Short toe, Clinodactyly, Camptodactyly of toe, Syndactyly, Toe clinodact... |
OMIM:300244 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Peripheral axonal d... |
OMIM:302800 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear/anxiety-related behavior, Hyperactivity, Aggressive behavior, Abnormal aggressive, ... |
ORPHA:3077 |
| Morm Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:75858 |
| Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Depression, Anxiety |
OMIM:619467 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Demyelinating peripheral neuropathy, Abnormal autonomic nervous system physiology, Aganglionic me... |
OMIM:609136 |
| Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Abnormality of peripheral nerve conduction, Axonal degeneration, Decreased amplitude of sensory a... |
ORPHA:90103 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Short metacarpal, Clinodactyly, Radioulnar synostosis, Carpal synostosis, Syndactyly, Brachydacty... |
OMIM:605282 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Aggressive behavior, Impulsivity, Anxiety, Abnormal eating behavior |
ORPHA:101039 |
| Acromesomelic Dysplasia 2C |
|
Short tibia, Hypoplasia of the radius, Radial bowing, Cuboidal metacarpal, Hip dislocation, Hypop... |
OMIM:201250 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Demyelinating peripheral neuropa... |
OMIM:218000 |
| Aplasia Cutis Congenita |
|
Toe syndactyly, Finger syndactyly |
ORPHA:1114 |
| Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Camptodactyly of finger, Triphalangeal thumb, Finger syndactyly, Microcephaly, Arachnodactyly, Sh... |
ORPHA:2994 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Polydactyly, Polymicrogyria, Syndactyly, Megalencephaly, Progressive macrocephaly, Cavum septum p... |
OMIM:602501 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Anxiety |
OMIM:301013 |
| Hypotrichosis-Intellectual Disability, Lopes Type |
|
1-5 finger complete cutaneous syndactyly |
ORPHA:2266 |
| Craniofrontonasal Dysplasia |
|
Camptodactyly of finger, Finger syndactyly, Hand polydactyly, Clinodactyly of the 5th finger, Dow... |
ORPHA:1520 |
| Curry-Jones Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly, Toe syndactyly, Foot polydactyly, Broad thumb, Abno... |
ORPHA:1553 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Radial bowing, Ulnar bowing, Hip dislocation, Clinodactyly of the 5th finger, Syndactyly, Limited... |
OMIM:605432 |
| Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
2-3 toe syndactyly, 2-3 finger syndactyly, Broad hallux, Postaxial hand polydactyly, Postaxial po... |
OMIM:217085 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Syndactyly, Clinodactyly, Microcephaly, Arachnodactyly |
OMIM:619092 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Narrow palm, Short foot, Abnormal ulnar metaphysis morphology, Small hand |
ORPHA:177910 |
| Charcot-Marie-Tooth Disease Type 4A |
|
Chronic axonal neuropathy, Motor conduction block, Demyelinating peripheral neuropathy, Decreased... |
ORPHA:99948 |
| Metachromatic Leukodystrophy |
|
Decreased nerve conduction velocity, Peripheral demyelination, Optic atrophy |
OMIM:250100 |
| Grange Syndrome |
|
Syndactyly, Short palm |
ORPHA:79094 |
| Landau-Kleffner Syndrome |
|
Hyperactivity, Aggressive behavior, Emotional lability, Impulsivity, Attention deficit hyperactiv... |
ORPHA:98818 |
| Weaver Syndrome |
|
Camptodactyly of finger, Finger syndactyly, Macrocephaly, Broad thumb, Sandal gap, Abnormal metap... |
ORPHA:3447 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Short phalanx of finger, Coxa valga, Flared iliac wing, Narrow pelvis bone, Limited elbow extensi... |
OMIM:300106 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Clinodactyly, Camptodactyly, Osteolysis involving bones of the upper limbs, Syndactyly, Osteolysi... |
ORPHA:88630 |
| Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Abnormal myelination |
ORPHA:85179 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormal metacarpal morphology, Abnormality of the wrist, Oligod... |
ORPHA:1307 |
| Molybdenum Cofactor Deficiency, Complementation Group A |
|
Growth delay, Peripheral demyelination, Gliosis, Axonal loss |
OMIM:252150 |
| Dysspondyloenchondromatosis |
|
Abnormality of fibula morphology, Genu valgum, Abnormal ulnar metaphysis morphology, Metaphyseal ... |
ORPHA:85198 |
| Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, CNS demyelination, Peripheral demyelination |
ORPHA:206448 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Shoulder dislocation, Genu varum, Aplasia/Hypoplasia of the thumb, Asymmetric radial dysplasia, R... |
OMIM:171480 |
| Moebius Syndrome |
|
Short phalanx of finger, Hand clenching, Hypoplasia of the brainstem, Aplasia/Hypoplasia involvin... |
OMIM:157900 |
| Rubinstein-Taybi Syndrome 2 |
|
Short 5th toe, Short first metatarsal, Broad hallux, Syndactyly, Broad thumb, Microcephaly, Promi... |
OMIM:613684 |
| Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
|
Finger syndactyly, Abnormality of the wrist, Proximal placement of thumb, Abnormal thumb morphology |
ORPHA:1825 |
| 2Q31.1 Microdeletion Syndrome |
|
Camptodactyly of finger, Optic disc coloboma, Tapered finger, Short foot, Finger syndactyly, Toe ... |
ORPHA:251014 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior |
ORPHA:382 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Decreased motor nerve conduction velocity, Chronic axonal neuropathy, Decreased number of large p... |
OMIM:162400 |
| Pfeiffer Syndrome Type 1 |
|
Aplasia/Hypoplasia of the thumb, Short foot, Finger syndactyly, Toe syndactyly, Short hallux, Bro... |
ORPHA:93258 |
| Spondyloperipheral Dysplasia |
|
Short distal phalanx of the 2nd finger, Flat capital femoral epiphysis, Shortening of all middle ... |
OMIM:271700 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Mitten deformity, Clinodactyly of the 5th finger, Syndactyly, Widely spaced toes, Tapered distal ... |
OMIM:609638 |
| Tibial Hemimelia |
|
Short tibia, Polydactyly, Coxa valga, Hip dislocation, Metatarsus adductus, Aplasia of the 2nd me... |
ORPHA:93322 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur... |
ORPHA:320406 |
| Filippi Syndrome |
|
Single transverse palmar crease, Microcephaly, 2-4 toe syndactyly, Finger clinodactyly, Cutaneous... |
OMIM:272440 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Anxiety |
OMIM:271980 |
| Ring Chromosome 21 Syndrome |
|
Small hand, Clinodactyly, Syndactyly, Narrow palm, Microcephaly |
ORPHA:1445 |
| Orofaciodigital Syndrome Viii |
|
Short tibia, Polydactyly, Syndactyly |
OMIM:300484 |
| Bardet-Biedl Syndrome 9 |
|
Polydactyly, Postaxial foot polydactyly, Syndactyly, Brachydactyly, Postaxial hand polydactyly, P... |
OMIM:615986 |
| Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Hypoplasia of deltoid muscle |
OMIM:173800 |
| Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Hand clenching, Coxa valga, Slender long bones with narrow diaphyses, Inability to walk, Clubbing... |
OMIM:620083 |
| 8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
2-3 toe syndactyly, Hypoplasia of the brainstem, Cerebellar hypoplasia, Clinodactyly of the 5th f... |
OMIM:236500 |
| Multiple Synostoses Syndrome 1 |
|
2-3 toe syndactyly, Dislocated radial head, Short hallux, Radial deviation of finger, Proximal/mi... |
OMIM:186500 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity |
OMIM:301076 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Hyperactivity, Aggressive behavior, Agitation, Anxiety, Restlessness |
OMIM:300558 |
| Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Abnormality of the elbow, Abnormality of the wrist, Split hand, Postaxial hand polydactyly, Short... |
ORPHA:2491 |
| Multiple Sulfatase Deficiency |
|
CNS demyelination, Peripheral demyelination |
OMIM:272200 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Toe syndactyly, Syndactyly, Clinodactyly of the 5th finger |
OMIM:601163 |
| Holt-Oram Syndrome |
|
Triphalangeal thumb, Absent thumb, Finger syndactyly, Abnormality of the humerus, Abnormal metaca... |
ORPHA:392 |
| Sporadic Infantile Bilateral Striatal Necrosis |
|
Gait ataxia, Chorea, Abnormal posturing, Resting tremor, Titubation, Gait disturbance, Dystonia |
ORPHA:225147 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Syndactyly, Palmoplantar keratoderma |
OMIM:613576 |
| Neuropathy, Hereditary Sensory, Type Ie |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:614116 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Hypoplastic iliac wing, Coxa vara, Short 1st metacarpal, Radial bowing, Ivory epiphyses, Narrow p... |
OMIM:210720 |
| Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Finger syndactyly, Toe syndactyly, Cerebral calcification, Microcephaly, Arachnodactyly, Short palm |
ORPHA:73246 |
| Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Aplasia/Hypoplasia of the thumb, Radial club hand, Asymmetric radial dysplasia, Ulnar bowing, Abn... |
ORPHA:2878 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Abnormality of peripheral nerve conduction, Abnormality of peripheral nerves, Abnormal peripheral... |
ORPHA:168563 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Short long bone, Macrocephaly, Femoral bowing, Syndactyly, Preaxial polydactyly, Acetabular spurs... |
OMIM:615503 |
| Acrofrontofacionasal Dysostosis 2 |
|
Hand polydactyly, Broad hallux, Syndactyly, Broad thumb, Microcephaly |
OMIM:239710 |
| Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Syndactyly, Cerebral cortical atrophy, Congenital bilateral hip dislocation |
ORPHA:404451 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Finger syndactyly, Arrhinencephaly, Radioulnar synostosis, Abnormal pelvic girdle bone morphology... |
ORPHA:1788 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Inappropriate laughter, Polyphagia, Happy demeanor |
ORPHA:411515 |
| 20P13 Microdeletion Syndrome |
|
Polydactyly, Finger syndactyly, Clinodactyly, Macrocephaly, Microcephaly, Brachydactyly |
ORPHA:313781 |
| Desbuquois Dysplasia 2 |
|
Short phalanx of finger, Genu varum, Advanced ossification of carpal bones, Coxa valga, Short met... |
OMIM:615777 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Delayed speech and language development, Abnormal myelination, Camptodactyly, Talipes equinovarus |
OMIM:617333 |
| Multiple Osteochondromas |
|
Somatic sensory dysfunction, Coxa valga, Abnormal carpal morphology, Genu valgum, Abnormal hand m... |
ORPHA:321 |
| Camurati-Engelmann Disease |
|
Genu valgum, Coxa valga, Optic nerve compression, Optic atrophy, Facial palsy, Abnormality of the... |
ORPHA:1328 |
| Dyschondrosteosis And Nephritis |
|
Short tibia, Short forearm, Radial bowing, Ulnar bowing, Madelung deformity |
OMIM:127350 |
| Spastic Paraplegia 11, Autosomal Recessive |
|
Decreased number of peripheral myelinated nerve fibers, Obesity |
OMIM:604360 |
| Cutis Laxa, Autosomal Recessive, Type Iie |
|
Genu varum, Hip dislocation, Clinodactyly of the 5th finger, Syndactyly, Brachydactyly, Deep palm... |
OMIM:619451 |
| Tukel Syndrome |
|
Syndactyly, Carpal bone aplasia, Postaxial oligodactyly, Carpal synostosis |
OMIM:609428 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
|
Decreased number of peripheral myelinated nerve fibers, Decreased nerve conduction velocity, Decr... |
OMIM:201300 |
| Mohr Syndrome |
|
Metaphyseal irregularity, Preaxial hand polydactyly, Preaxial foot polydactyly, Partial duplicati... |
OMIM:252100 |
| Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
2-3 toe syndactyly, Short 5th finger, Broad hallux, Broad thumb, Sandal gap, Microcephaly, Short ... |
OMIM:600987 |
| Schizophrenia 1 |
|
Syndactyly, Short proximal phalanx of the 4th toe |
OMIM:181510 |
| Pelizaeus-Merzbacher Disease, Connatal Form |
|
Inability to walk, Titubation, Cerebral hypomyelination, Abnormal myelination, Ataxia, Absent spe... |
ORPHA:280210 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Genu varum, Coxa valga, Finger syndactyly, Tibial torsion, Hip dislocation, Clinodactyly of the 5... |
ORPHA:3320 |
| Autosomal Spastic Paraplegia Type 58 |
|
Peripheral demyelination, Short stature |
ORPHA:397946 |
| Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Cerebral cortical atrophy, Finger syndactyly, Cerebellar hypoplasia, Toe syndactyly, Abnormal met... |
ORPHA:3224 |
| Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Absent thumb, Hypoplasia of the radius, Hand oligodactyly, Proximal placement of thumb, Proximal ... |
OMIM:602418 |
| Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Cutaneous finger syndactyly, 2-4 finger syndactyly, 2-3 toe cutaneous syndactyly, Palmar hyperker... |
OMIM:613573 |
| Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Abnormal myelination |
ORPHA:352682 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Self-mutilation |
OMIM:615516 |
| Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type) |
|
Sensory axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Optic at... |
OMIM:271245 |
| Acromesomelic Dysplasia 4 |
|
Short phalanx of finger, Short toe, Genu valgum, Metaphyseal irregularity, Genu varum, Short meta... |
OMIM:619636 |
| Spinocerebellar Ataxia 25 |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:608703 |
| Spastic Ataxia, Charlevoix-Saguenay Type |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Hypermyelinated retinal nerve fi... |
OMIM:270550 |
| Moebius Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Aplasia/Hypoplasia involving the metacarpal b... |
ORPHA:570 |
| Acrootoocular Syndrome |
|
Decreased palmar creases, Short toe, Short metacarpal, Short finger, Abnormal finger flexion crea... |
ORPHA:2980 |
| Cranioectodermal Dysplasia |
|
Finger syndactyly, Clinodactyly of the 5th finger, Abnormal diaphysis morphology, Short distal ph... |
ORPHA:1515 |
| Klippel-Trenaunay-Weber Syndrome |
|
Hand oligodactyly, Syndactyly, Hand polydactyly, Macrodactyly |
OMIM:149000 |
| Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Absent pubertal growth spurt, Obesity, Short stature, Delayed peripheral myelination |
ORPHA:464282 |
| Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Decreased number of peripheral myelinated nerve fibers, Sensory axonal neuropathy, Motor axonal n... |
OMIM:256850 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Weight loss, Decreased motor nerve conduction velocity, Demyelinating peripheral neuropathy, Cach... |
ORPHA:298 |
| Laurence-Moon Syndrome |
|
Brachydactyly, Hand polydactyly, Finger syndactyly, Bilateral single transverse palmar creases |
ORPHA:2377 |
| Pfeiffer Syndrome |
|
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Hip dysplasia, Synostosis o... |
ORPHA:710 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Aggressive behavior |
OMIM:612716 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Peripheral demyelination, Optic atrophy, Failure to thrive, Growth delay, Severe demyelination of... |
ORPHA:79282 |
| Acheiropodia |
|
Aplasia of the ulna, Upper limb phocomelia, Absent radius, Abnormal metaphysis morphology, Abnorm... |
ORPHA:931 |
| Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Hand monodactyly, Patellar aplasia, Absent forearm, Absent tibia, Short hallux, Split foot, Split... |
OMIM:119100 |
| Thalidomide Embryopathy |
|
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Radial club hand, Preaxial hand polydactyly... |
ORPHA:3312 |
| Joubert Syndrome 17 |
|
3-4 finger syndactyly, Preaxial polydactyly, Postaxial polydactyly |
OMIM:614615 |
| Microphthalmia With Brain And Digit Anomalies |
|
Finger syndactyly, Inferior cerebellar vermis hypoplasia, Postaxial foot polydactyly, Microcephal... |
ORPHA:139471 |
| Isolated Osteopoikilosis |
|
Tarsal sclerosis, Abnormal long bone morphology, Abnormal pelvis bone ossification, Abnormal pelv... |
ORPHA:166119 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Hypoplastic ilia, Hypoplasia of the radius, Relative macrocephaly, Syndactyly, Brachydactyly, Pos... |
OMIM:617895 |
| 17Q12 Microduplication Syndrome |
|
Toe syndactyly, Finger syndactyly, Cortical dysplasia |
ORPHA:261272 |
| Eem Syndrome |
|
Ectrodactyly, Finger syndactyly |
ORPHA:1897 |
| Cenani-Lenz Syndactyly Syndrome |
|
Hypoplasia of the radius, Radioulnar synostosis, Hypoplasia of the ulna, Broad hallux, Syndactyly... |
OMIM:212780 |
| Hereditary Sensory And Autonomic Neuropathy Type 5 |
|
Decreased number of small peripheral myelinated nerve fibers |
ORPHA:64752 |
| Graves Disease, Susceptibility To, 1 |
|
Hyperactivity, Irritability, Polyphagia |
OMIM:275000 |
| Short Stature With Microcephaly And Distinctive Facies |
|
Short digit, Syndactyly, Proximal placement of thumb, Microcephaly, Brachydactyly, Hypoplasia of ... |
OMIM:615789 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Abnormality of the elbow, Finger syndactyly, Synostosis of carpal bones, Biparietal narrowing, Hi... |
ORPHA:1005 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:620141 |
| Spastic Ataxia 5, Autosomal Recessive |
|
Onion bulb formation |
OMIM:614487 |
| Peho Syndrome |
|
Peripheral dysmyelination, Optic atrophy |
OMIM:260565 |
| Bartsocas-Papas Syndrome |
|
Absent thumb, Finger syndactyly, Toe syndactyly, Microcephaly, Aplasia/Hypoplasia of the distal p... |
ORPHA:1234 |
| Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Syndactyly, Clinodactyly, Microcephaly, Cerebellar hypoplasia |
OMIM:618087 |
| Alkuraya-Kucinskas Syndrome |
|
Hand clenching, Hypoplasia of the brainstem, Aplasia/Hypoplasia of the corpus callosum, Cerebella... |
OMIM:617822 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Aplasia/Hypoplasia of the fibula, Finger syndactyly, Short long bone, Hypoplasia of the ulna, Apl... |
ORPHA:2256 |
| Acheiropody |
|
Short tibia, Aplasia of the phalanges of the hand, Absent toe, Aplasia of metacarpal bones, Absen... |
OMIM:200500 |
| Goldberg-Shprintzen Megacolon Syndrome |
|
Hypoplasia of the corpus callosum, Finger syndactyly, Pachygyria, Microcephaly |
ORPHA:66629 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Finger syndactyly, Toe syndactyly, Foot polydactyly, Macroc... |
ORPHA:60040 |
| Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Abnormal metacarpal morphology, Abnormal pelvic girdle bone morphology, Abnorm... |
ORPHA:3429 |
| 6P22 Microdeletion Syndrome |
|
Clinodactyly, Finger syndactyly |
ORPHA:251046 |
| Pfeiffer Syndrome |
|
Short middle phalanx of toe, Finger syndactyly, Humeroradial synostosis, Elbow ankylosis, Broad h... |
OMIM:101600 |
| Non-Specific Early-Onset Epileptic Encephalopathy |
|
Optic atrophy, Delayed speech and language development, Abnormal myelination, Ataxia, Tremor, Dif... |
ORPHA:442835 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Short phalanx of finger, Absent thumb, Coxa valga, Hip dislocation, Phocomelia, Abnormal shoulder... |
OMIM:274000 |
| Glutaric Acidemia I |
|
Failure to thrive, Symmetrical progressive peripheral demyelination, Delayed myelination |
OMIM:231670 |
| Pelvis-Shoulder Dysplasia |
|
Camptodactyly of finger, Aplasia/Hypoplasia of the fibula, Hypoplastic pubic bone, Aplasia/hypopl... |
ORPHA:2839 |
| Silver-Russell Syndrome 3 |
|
Syndactyly, Relative macrocephaly, Clinodactyly of the 5th finger, Small hand |
OMIM:616489 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Hallux valgus, Slender long bones with narrow diaphyses, Hypoplastic ilia, Peripapillary atrophy,... |
ORPHA:536467 |
| Fibrous Dysplasia Of Bone |
|
Antalgic gait, Paresthesia, Coxa vara, Abnormality of the humerus, Abnormal morphology of the rad... |
ORPHA:249 |
| X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Tapered finger, Finger syndactyly, Camptodactyly, Single transverse palmar crease, Microcephaly |
ORPHA:435938 |
| Microphthalmia With Limb Anomalies |
|
Short tibia, Toe syndactyly, Hip dislocation, Elbow dislocation, Postaxial hand polydactyly, Tali... |
ORPHA:1106 |
| Atelosteogenesis, Type I |
|
Short metacarpal, Multinucleated giant chondrocytes in epiphyseal cartilage, Radial bowing, Short... |
OMIM:108720 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Polydactyly, Short 5th finger, Relative macrocephaly, Clinodactyly of the 5th finger, Syndactyly,... |
ORPHA:397590 |
| Oliver Syndrome |
|
Camptodactyly of finger, Short toe, Cutaneous finger syndactyly, Elbow flexion contracture, Clino... |
ORPHA:2920 |
| Bardet-Biedl Syndrome 6 |
|
Syndactyly, Postaxial polydactyly |
OMIM:605231 |
| Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Camptodactyly of finger, Finger syndactyly, Synostosis of carpal bones, Biparietal narrowing, Abn... |
ORPHA:1323 |
| Cenani-Lenz Syndrome |
|
Foot oligodactyly, Finger syndactyly, Toe syndactyly, Hypoplasia of the radius, Synostosis of car... |
ORPHA:3258 |
| Combined Oxidative Phosphorylation Defect Type 7 |
|
Decreased number of peripheral myelinated nerve fibers, Optic atrophy, Facial diplegia, Failure t... |
ORPHA:254930 |
| Polysyndactyly With Cardiac Malformation |
|
Duplication of phalanx of hallux, Syndactyly, Preaxial hand polydactyly |
OMIM:263630 |
| Adams-Oliver Syndrome 6 |
|
Syndactyly, Foot oligodactyly, Brachydactyly |
OMIM:616589 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Somatic sensory dysfunction, Inability to walk, Abnormal myelination, Difficulty walking, Proxima... |
ORPHA:466768 |
| Holzgreve Syndrome |
|
Abnormal morphology of ulna, Abnormal metacarpal morphology, Hand polydactyly |
ORPHA:2167 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Hallux valgus, Elbow flexion contracture, Flat capital femoral epiphysis, Optic nerve hypoplasia,... |
ORPHA:536471 |
| Cockayne Syndrome B |
|
Patchy demyelination of subcortical white matter, Optic atrophy, Abnormal peripheral myelination,... |
OMIM:133540 |
| Van Den Ende-Gupta Syndrome |
|
Tapered finger, Hallux valgus, Joint contracture of the hand, Slender long bone, Long hallux, Cam... |
OMIM:600920 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Peripheral axonal degeneration, Decreased number of large peripheral myelinated nerve fibers, Axo... |
OMIM:208920 |
| Achondroplasia |
|
Genu varum, Short femoral neck, Radial bowing, Ulnar bowing, Femoral bowing, Bowing of the legs, ... |
OMIM:100800 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Abnormal posturing |
OMIM:614857 |
| 2Q37 Microdeletion Syndrome |
|
Short foot, Short metacarpal, Finger syndactyly, Toe syndactyly, Small hand, Macrocephaly, Clinod... |
ORPHA:1001 |
| Crane-Heise Syndrome |
|
Aplasia/Hypoplasia of the corpus callosum, Aplastic clavicle, Finger syndactyly, Toe syndactyly, ... |
ORPHA:1512 |
| Filippi Syndrome |
|
Finger syndactyly, Enlarged epiphyses, Clinodactyly of the 5th toe, Clinodactyly of the 5th finge... |
ORPHA:3255 |
| Epidermolysis Bullosa, Junctional 1B, Severe |
|
Syndactyly |
OMIM:226700 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Death in infancy, Small for gestational age, CNS demyelination, Failure to thrive, Gliosis, Perip... |
OMIM:220111 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
2-3 toe syndactyly, Short femoral neck, Coxa vara, Radioulnar synostosis, Clinodactyly of the 5th... |
OMIM:614701 |
| Tarp Syndrome |
|
Short sternum, Cerebellar hypoplasia, Hypoplasia of the radius, Talipes equinovarus, Clinodactyly... |
OMIM:311900 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Delayed myelination, Decreased body weight, Leukodystrophy, Neurofibromas, Failure to thrive, Del... |
OMIM:619475 |
| Acrofacial Dysostosis, Catania Type |
|
Finger syndactyly, Small hand, Clinodactyly of the 5th finger, Brachydactyly, Microcephaly, Bilat... |
ORPHA:1786 |
| Rubinstein-Taybi Syndrome |
|
Finger syndactyly, Hip dysplasia, Clubbing of toes, Clinodactyly of the 5th finger, Abnormal dist... |
ORPHA:783 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Syndactyly, Camptodactyly |
OMIM:616006 |
| Kbg Syndrome |
|
Single transverse palmar crease, Finger clinodactyly, Cutaneous syndactyly, Microcephaly |
ORPHA:2332 |
| Endocrine-Cerebroosteodysplasia |
|
Aplasia/Hypoplasia of the cerebellum, Focal polymicrogyria, Agenesis of corpus callosum, Talipes ... |
OMIM:612651 |
| Rhombencephalosynapsis |
|
Short phalanx of finger, Polydactyly, Complete duplication of thumb phalanx, Finger syndactyly, S... |
ORPHA:59315 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
2-3 toe syndactyly, Radial bowing, Ulnar bowing, Hypoplastic ischia, Single transverse palmar cre... |
OMIM:617866 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Split hand, Finger syndactyly, Brachydactyly |
ORPHA:2145 |
| Aarskog-Scott Syndrome |
|
Camptodactyly of finger, Finger syndactyly, Short foot, Small hand, Clinodactyly of the 5th finge... |
ORPHA:915 |
| X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:85327 |
| Kyphomelic Dysplasia |
|
Short metacarpal, Radial bowing, Flat acetabular roof, Ulnar bowing, Femoral bowing, Short femur,... |
OMIM:211350 |
| Short Rib-Polydactyly Syndrome |
|
Short tibia, Polydactyly, Abnormal pelvis bone ossification, Acetabular spurs, Abnormal ilium mor... |
ORPHA:1505 |
| Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Finger syndactyly, Toe syndactyly, Abnormal metacarpal morphology, Aplasia/Hypoplasia of the phal... |
ORPHA:1112 |
| Long Qt Syndrome 8 |
|
Syndactyly |
OMIM:618447 |
| Autosomal Recessive Spastic Paraplegia Type 35 |
|
Peripheral demyelination, Optic atrophy |
ORPHA:171629 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Attention deficit hyperactivity diso... |
ORPHA:449291 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Polydactyly, Short long bone, Flat acetabular roof, Syndactyly, Brachydactyly, Short distal phala... |
OMIM:614091 |
| Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Small hand, Finger symphalangism, Abnormality... |
ORPHA:2911 |
| Ring Chromosome 12 Syndrome |
|
Clinodactyly, Abnormal 5th finger morphology, Syndactyly, Microcephaly, Symphalangism of the thumb |
ORPHA:1439 |
| Bohring-Opitz Syndrome |
|
Short toe, Hypoplasia of the brainstem, Tapered finger, Ulnar deviation of the wrist, Agenesis of... |
OMIM:605039 |
| Timothy Syndrome |
|
Syndactyly, Cutaneous syndactyly |
OMIM:601005 |
| Pfeiffer Syndrome Type 2 |
|
Finger syndactyly, Small hand, Toe syndactyly, Short hallux, Deviation of the thumb, Broad thumb,... |
ORPHA:93259 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Cerebellar hypoplasia, Clinodactyly, Syndactyly, Proximal placement of thumb, Microcephaly, Brach... |
OMIM:217980 |
| Curry-Jones Syndrome |
|
Hemimegalencephaly, Preaxial hand polydactyly, 2-3 finger syndactyly, Preaxial foot polydactyly, ... |
OMIM:601707 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Finger syndactyly, Aplasia/Hypoplasia involving the central nervous system, Aplasia of the distal... |
OMIM:308050 |
| Oculocerebrocutaneous Syndrome |
|
Aplasia/Hypoplasia of the corpus callosum, Finger syndactyly, Cerebellar hypoplasia, Hand polydac... |
ORPHA:1647 |
| Aarskog-Scott Syndrome |
|
Short 5th finger, Short foot, Hyperextensibility of the finger joints, Clinodactyly, Syndactyly, ... |
OMIM:305400 |
| Blepharocheilodontic Syndrome 2 |
|
Cutaneous syndactyly |
OMIM:617681 |
| Orofaciodigital Syndrome Type 6 |
|
Aplasia/Hypoplasia of the corpus callosum, Foot polydactyly, Mesoaxial polydactyly, Biparietal na... |
ORPHA:2754 |
| Teebi Hypertelorism Syndrome 2 |
|
Syndactyly, Clinodactyly of the 5th finger |
OMIM:619736 |
| Dyschondrosteosis-Nephritis Syndrome |
|
Madelung deformity, Radial bowing, Aplasia/Hypoplasia of the radius, Ulnar bowing |
ORPHA:1765 |
| Marshall Syndrome |
|
Coxa valga, Hypoplastic ilia, Radial bowing, Irregular distal femoral epiphysis, Ulnar bowing, Cl... |
OMIM:154780 |
| 19Q13.11 Microdeletion Syndrome |
|
Finger syndactyly, Toe syndactyly, Clinodactyly of the 5th finger, Congenital hip dislocation, To... |
ORPHA:217346 |
| Methylcobalamin Deficiency Type Cble |
|
Hypoplasia of the brainstem, Clinodactyly, Abnormal cerebral white matter morphology, Syndactyly,... |
ORPHA:2169 |
| 19P13.12 Microdeletion Syndrome |
|
Finger syndactyly, Clinodactyly of the 5th finger, Toe clinodactyly, Aplasia/Hypoplasia of the ce... |
ORPHA:254346 |
| Autosomal Recessive Spastic Paraplegia Type 55 |
|
Decreased sensory nerve conduction velocity, Optic neuropathy, Onion bulb formation, Optic atrophy |
ORPHA:320375 |
| Ritscher-Schinzel Syndrome 3 |
|
Short first metatarsal, Short 1st metacarpal, Shortening of all distal phalanges of the fingers, ... |
OMIM:619135 |
| Choroidal Atrophy-Alopecia Syndrome |
|
Finger syndactyly |
ORPHA:1433 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the ... |
ORPHA:1908 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Demyelinating peripheral neuropathy, Failure to thrive, Optic atrophy, Segmental peripheral demye... |
ORPHA:255210 |
| Neu-Laxova Syndrome 2 |
|
Finger syndactyly, Cerebellar hypoplasia, Toe syndactyly, Lissencephaly, Microcephaly, Rocker bot... |
OMIM:616038 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Self-biting |
OMIM:618314 |
| Cockayne Syndrome A |
|
Patchy demyelination of subcortical white matter, Optic atrophy, Abnormal peripheral myelination,... |
OMIM:216400 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Macrocephaly, Overlapping toe, Long toe, Overlapping fingers, Long fingers, Cutaneous syndactyly |
OMIM:618316 |
| Roberts Syndrome |
|
Wrist flexion contracture, Aplasia/Hypoplasia of the thumb, Abnormality of the upper limb, Comple... |
ORPHA:3103 |
| Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome |
|
2-3 finger syndactyly |
ORPHA:1338 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Short phalanx of finger, Shoulder dislocation, Camptodactyly of finger, Deviation of the 5th fing... |
OMIM:143095 |
| Kury-Isidor Syndrome |
|
Finger syndactyly, Hip dysplasia, Brachydactyly, Proximal placement of thumb, Rocker bottom foot,... |
OMIM:619762 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
2-3 toe syndactyly, Finger syndactyly, Clinodactyly, Broad distal phalanx of the toes, Overlappin... |
ORPHA:464738 |
| 8Q22.1 Microdeletion Syndrome |
|
Camptodactyly of finger, Finger syndactyly, Sandal gap, Microcephaly |
ORPHA:178303 |
| Duane-Radial Ray Syndrome |
|
Triphalangeal thumb, Shoulder dislocation, Absent thumb, Radial deviation of the hand, Aplasia of... |
OMIM:607323 |
| Craniodigital-Intellectual Disability Syndrome |
|
Finger syndactyly |
ORPHA:1514 |
| Cri-Du-Chat Syndrome |
|
Short metacarpal, High axial triradius, Metatarsus adductus, Syndactyly, Single transverse palmar... |
OMIM:123450 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Tapered finger, Anencephaly, Agenesis of corpus callosum, Camptodactyly, Dandy-Walker malformatio... |
OMIM:619148 |
| Apert Syndrome |
|
Broad distal phalanx of the thumb, Broad distal hallux, Preaxial hand polydactyly, Limited elbow ... |
OMIM:101200 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Decreased number of large peripheral myelinated nerve fibers, Demyelinating sensory neuropathy, O... |
ORPHA:101085 |
| Acrocardiofacial Syndrome |
|
Camptodactyly of finger, Cerebral cortical atrophy, Hallux valgus, Finger syndactyly, Foot polyda... |
ORPHA:2008 |
| Adams-Oliver Syndrome |
|
Abnormality of the upper limb, Finger syndactyly, Porencephalic cyst, Periventricular leukomalaci... |
ORPHA:974 |
| Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Hand monodactyly, Absent tibia, Bifid femur, Aplasia of the ulna, Split hand, Foot monodactyly |
OMIM:228250 |
| Acro-Renal-Ocular Syndrome |
|
Triphalangeal thumb, Radial club hand, Preaxial hand polydactyly, Finger syndactyly, Toe syndacty... |
ORPHA:959 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Syndactyly |
OMIM:615631 |
| East Syndrome |
|
Peripheral axonal neuropathy, Peripheral hypomyelination |
ORPHA:199343 |
| Neuromuscular Oculoauditory Syndrome |
|
Sensory axonal neuropathy, Decreased nerve conduction velocity, Decreased amplitude of sensory ac... |
OMIM:618733 |
| Postaxial Acrofacial Dysostosis |
|
Camptodactyly of finger, Hypoplasia of the radius, Finger syndactyly, Hypoplasia of the ulna |
ORPHA:246 |
| White Forelock With Malformations |
|
Clinodactyly of the 5th finger, Finger syndactyly |
ORPHA:2475 |
| Acromelic Frontonasal Dysostosis |
|
Short tibia, Polydactyly, Tubulonodular pericallosal lipoma, Patellar hypoplasia, Preaxial foot p... |
OMIM:603671 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Humeroradial synostosis, Narrow pelvis bone, Camptodactyly, Ulnar bowing, Femoral bowing, Arachno... |
OMIM:207410 |
| Blepharocheilodontic Syndrome 1 |
|
Clinodactyly, Cutaneous syndactyly |
OMIM:119580 |
| Silver-Russell Syndrome 1 |
|
Syndactyly, Clinodactyly of the 5th finger, Short distal phalanx of the 5th finger, Short middle ... |
OMIM:180860 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Decreased nerve conduction velocity, Fail... |
ORPHA:477817 |
| Cardiofaciocutaneous Syndrome |
|
Genu valgum, Optic atrophy, Abnormal morphology of ulna, Palmoplantar keratoderma, Cubitus valgus... |
ORPHA:1340 |
| Myoclonic-Astatic Epilepsy |
|
Syndactyly, Microcephaly |
ORPHA:1942 |
| Larsen Syndrome |
|
Accessory carpal bones, Finger syndactyly, Broad thumb, Brachydactyly, Short distal phalanx of fi... |
ORPHA:503 |
| Cerebrofacioarticular Syndrome |
|
Caudal appendage, Agenesis of corpus callosum, Camptodactyly, Syndactyly, Microcephaly, Hypoplasi... |
ORPHA:314679 |
| Blepharo-Cheilo-Odontic Syndrome |
|
Finger syndactyly |
ORPHA:1997 |
| Ulnar-Mammary Syndrome |
|
Camptodactyly of finger, Abnormal finger morphology, Aplasia of the pectoralis major muscle, Abno... |
ORPHA:3138 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Proximal symphalangism of hands, Cerebral cortical atrophy, Hyperextensibility of the finger join... |
OMIM:151050 |
| Teebi-Shaltout Syndrome |
|
Caudal appendage, Talipes equinovarus, Camptodactyly, Metatarsus adductus, Syndactyly, Single tra... |
OMIM:272950 |
| Grange Syndrome |
|
Syndactyly, Finger clinodactyly, Brachydactyly |
OMIM:602531 |
| Cohen Syndrome |
|
Genu valgum, Tapered finger, Finger syndactyly, Slender toe, Clinodactyly of the 5th finger, Narr... |
ORPHA:193 |
| Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Abnormal myelination |
ORPHA:289266 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Chorea, Shoulder dislocation, Tarsal sclerosis, Coxa valga, Delayed myelination, Lingual dystonia... |
ORPHA:404454 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Syndactyly, Abnormality of the hand, Camptodactyly, Clinodactyly |
ORPHA:369891 |
| Sandifer Syndrome |
|
Torticollis, Abnormal posturing |
ORPHA:71272 |
| Bent Bone Dysplasia Syndrome 2 |
|
Short tibia, Hypoplastic iliac wing, Short sternum, Hypoplastic acetabulae, Short 1st metacarpal,... |
OMIM:620076 |
| Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Broad hallux, Syndactyly, Single transverse palmar crease, Sandal gap, Brachydactyly |
OMIM:614800 |
| Fanconi Anemia |
|
Triphalangeal thumb, Abnormality of the upper limb, Finger syndactyly, Toe syndactyly, Aplasia/Hy... |
ORPHA:84 |
| Opitz-Kaveggia Syndrome |
|
Postnatal macrocephaly, Joint contracture of the hand, Clinodactyly, Camptodactyly, Relative macr... |
OMIM:305450 |
| Pfeiffer Syndrome Type 3 |
|
Finger syndactyly, Small hand, Toe syndactyly, Short hallux, Broad thumb, Broad hallux phalanx, H... |
ORPHA:93260 |
| Oculodentodigital Dysplasia |
|
Camptodactyly of finger, Aplasia/Hypoplasia of the cerebellum, Preaxial hand polydactyly, Finger ... |
ORPHA:2710 |
| Ritscher-Schinzel Syndrome 1 |
|
Syndactyly, Dandy-Walker malformation |
OMIM:220210 |
| Microphthalmia, Lenz Type |
|
Camptodactyly of finger, Aplasia/Hypoplasia of the corpus callosum, Complete duplication of thumb... |
ORPHA:568 |
| Rothmund-Thomson Syndrome Type 2 |
|
Short phalanx of finger, Genu varum, Abnormality of the radial head, Metaphyseal sclerosis, Patel... |
ORPHA:221016 |
| Charcot-Marie-Tooth Disease Type 4C |
|
Decreased number of peripheral myelinated nerve fibers, Optic atrophy, Decreased motor nerve cond... |
ORPHA:99949 |
| Cantú Syndrome |
|
Coxa valga, Finger syndactyly, Macrocephaly, Short hallux, Short distal phalanx of finger, Broad ... |
ORPHA:1517 |
| Acro-Renal-Mandibular Syndrome |
|
Finger syndactyly, Hypoplasia of the radius, Hip dislocation, Hypoplasia of the ulna, Split foot,... |
ORPHA:958 |
| Yunis-Varon Syndrome |
|
Aplasia of the 1st metacarpal, Absent thumb, Aplasia of the distal phalanges of the hand, Tapered... |
ORPHA:3472 |
| Kbg Syndrome |
|
Clinodactyly of the 5th finger, Syndactyly, Single transverse palmar crease, Radial deviation of ... |
OMIM:148050 |
| Otopalatodigital Syndrome, Type Ii |
|
Toe syndactyly, Broad hallux, Short hallux, Postaxial hand polydactyly, Rocker bottom foot, Bulbo... |
OMIM:304120 |
| Rothmund-Thomson Syndrome Type 1 |
|
Short phalanx of finger, Genu varum, Abnormality of the radial head, Metaphyseal sclerosis, Patel... |
ORPHA:221008 |
| 3C Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Finger syndactyly, Macrocephaly, Hand polydactyly, Brachyda... |
ORPHA:7 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Camptodactyly of finger, Macrocephaly, Finger syndactyly, Microcephaly |
ORPHA:2311 |
| X Small Rings |
|
2-3 toe syndactyly, Upper limb undergrowth, Tapered finger, Toe syndactyly, Clinodactyly of the 5... |
ORPHA:96201 |
| Bardet-Biedl Syndrome 1 |
|
Foot polydactyly, Macrocephaly, Postaxial foot polydactyly, Syndactyly, Radial deviation of finge... |
OMIM:209900 |
| Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
| Hypoglossia-Hypodactyly Syndrome |
|
Finger syndactyly, Aplasia/Hypoplasia of fingers, Upper limb phocomelia, Adactyly, Split hand, Br... |
ORPHA:989 |
| Pili Torti-Onychodysplasia Syndrome |
|
Palmoplantar keratoderma, Cutaneous syndactyly |
ORPHA:2890 |
| Hamamy Syndrome |
|
Tapered finger, Hip dysplasia, Clinodactyly of the 5th finger, Down-sloping shoulders, Syndactyly... |
OMIM:611174 |
| Acrofacial Dysostosis, Palagonia Type |
|
Short 4th metacarpal, Finger syndactyly, Small hand |
ORPHA:1787 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Syndactyly, Polymicrogyria |
OMIM:614520 |
| Fg Syndrome Type 1 |
|
Clinodactyly of the 2nd finger, Aplasia/Hypoplasia of the corpus callosum, Finger syndactyly, Mac... |
ORPHA:93932 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Camptodactyly of finger, Tapered finger, Finger syndactyly, Talipes equinovarus, Ulnar deviation ... |
ORPHA:2215 |
| Unilateral Polymicrogyria |
|
Delayed speech and language development, Abnormal posturing, Giant somatosensory evoked potentials |
ORPHA:268943 |
| Triploidy |
|
Macrocephaly, Aplasia/Hypoplasia of the corpus callosum, Finger syndactyly |
ORPHA:3376 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly, Abnormal cortical gyration, Macrogyria, Lissencepha... |
ORPHA:2211 |
| Acrocallosal Syndrome |
|
Bifid distal phalanx of the thumb, Preaxial hand polydactyly, Tapered finger, Finger syndactyly, ... |
OMIM:200990 |
| Sclerosteosis 1 |
|
2-3 finger syndactyly, Abnormal pelvic girdle bone morphology, Syndactyly, Deviation of finger, C... |
OMIM:269500 |
| Orofaciodigital Syndrome I |
|
Polydactyly, Abnormal cortical gyration, Porencephalic cyst, Clinodactyly, Syndactyly, Short 2nd ... |
OMIM:311200 |
| Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Chronic axonal neuropathy, Short stature, Peripheral hypomyelination |
OMIM:612780 |
| Rothmund-Thomson Syndrome |
|
Broad ulna, Metaphyseal striations, Hypoplasia of the ulna, Palmar hyperkeratosis, Aplasia/Hypopl... |
ORPHA:2909 |
| Postaxial Acrofacial Dysostosis |
|
Hypoplasia of the radius, Radioulnar synostosis, Hypoplasia of the ulna, Syndactyly, Congenital h... |
OMIM:263750 |
| Insensitivity To Pain, Congenital, With Anhidrosis |
|
Abnormal autonomic nervous system physiology, Decreased number of small peripheral myelinated ner... |
OMIM:256800 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Short metacarpal, Camptodactyly, Absent palmar crease, Syndactyly, Hypoplasia of the corpus callosum |
OMIM:614230 |
| 14Q22Q23 Microdeletion Syndrome |
|
Short 4th metacarpal, Short foot, Short 5th metacarpal, Finger syndactyly, Toe syndactyly, Clinod... |
ORPHA:264200 |
| Monosomy 13Q14 |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Clinodactyly of the 5th finger, Microcephaly,... |
ORPHA:1587 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Decreased number of peripheral myelinated nerve fibers, Failure to thrive, Growth delay, Short st... |
OMIM:256810 |
| Pallister-Hall Syndrome |
|
Mesoaxial foot polydactyly, Short 4th metacarpal, Toe syndactyly, Hip dislocation, Postaxial foot... |
OMIM:146510 |
| Saethre-Chotzen Syndrome |
|
Triphalangeal thumb, Finger syndactyly, Hallux valgus, Clinodactyly of the 5th finger, Brachydact... |
ORPHA:794 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Arachnodactyly, Patellar aplasia, Camptodactyly of toe, Camptodactyly, Hip dislocation, Acetabula... |
OMIM:265000 |
| Vici Syndrome |
|
Abnormal posturing |
OMIM:242840 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Short phalanx of finger, Clinodactyly, Camptodactyly, Macrocephaly, Syndactyly, Broad thumb, Brac... |
OMIM:616894 |
| Tarp Syndrome |
|
Short sternum, Finger syndactyly, Cerebellar hypoplasia, Clinodactyly, Hand polydactyly, Single t... |
ORPHA:2886 |
| Meckel Syndrome 14 |
|
Postaxial foot polydactyly, Syndactyly, Postaxial hand polydactyly, Bowing of the long bones, Pos... |
OMIM:619879 |
| Monosomy 18Q |
|
Abnormal palmar dermatoglyphics, Tapered finger, Abnormal myelination, Choreoathetosis, Arachnoda... |
ORPHA:1600 |
| Autosomal Recessive Robinow Syndrome |
|
Camptodactyly of finger, Finger syndactyly, Toe syndactyly, Synostosis of carpal bones, Macroceph... |
ORPHA:1507 |
| Cornelia De Lange Syndrome |
|
Small hand, Short 1st metacarpal, Toe syndactyly, Hip dysplasia, Hip dislocation, Radioulnar syno... |
ORPHA:199 |
| Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities |
|
Syndactyly, Clinodactyly of the 5th finger, Broad palm |
OMIM:618505 |
| Prader-Willi Syndrome |
|
Genu valgum, Small hand, Short foot, Hip dysplasia, Clinodactyly, Syndactyly, Narrow palm, Radial... |
OMIM:176270 |
| Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
3-4 finger cutaneous syndactyly, Camptodactyly, Optic nerve hypoplasia, 2-3 toe cutaneous syndact... |
OMIM:620029 |
| Focal Dermal Hypoplasia |
|
Camptodactyly of finger, Abnormal palmar dermatoglyphics, Finger syndactyly, Toe syndactyly, Coar... |
ORPHA:2092 |
| 8Q21.11 Microdeletion Syndrome |
|
Camptodactyly of finger, Aplasia/Hypoplasia of the corpus callosum, Finger syndactyly, Abnormal m... |
ORPHA:284160 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Symphalangism affecting the phalanges of the hand, Aplastic clavicle, Finger syndactyly, Abnormal... |
ORPHA:2658 |
| Neurocardiofaciodigital Syndrome |
|
Polydactyly, Cavum septum pellucidum, Syndactyly, Microcephaly, Hypoplasia of the corpus callosum... |
OMIM:619869 |
| Meckel Syndrome, Type 1 |
|
Camptodactyly of finger, Cerebellar hypoplasia, Foot polydactyly, Cerebral hypoplasia, Anencephal... |
OMIM:249000 |
| Apert Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Broad thumb, Absent septum pe... |
ORPHA:87 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Failure to thrive, Intrauterine growth retardation, Delayed peripheral myelination |
ORPHA:364577 |
| Adams-Oliver Syndrome 5 |
|
Syndactyly, Brachydactyly |
OMIM:616028 |
| Baller-Gerold Syndrome |
|
Forearm undergrowth, Absent thumb, Radial deviation of the hand, Patellar hypoplasia, Patellar ap... |
OMIM:218600 |
| Charcot-Marie-Tooth Disease Type 4B2 |
|
Myelin outfoldings, Optic atrophy, Decreased distal sensory nerve action potential |
ORPHA:99956 |
| Orofaciodigital Syndrome Type 1 |
|
Short toe, Preaxial hand polydactyly, Finger syndactyly, Foot polydactyly, Agenesis of corpus cal... |
ORPHA:2750 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Clinodactyly, Clinodactyly of the 5th finger, Relative macrocephaly, Syndactyly, Narrow joint spa... |
ORPHA:96182 |
| Microcephaly 29, Primary, Autosomal Recessive |
|
Hyperactivity, Emotional lability |
OMIM:620047 |
| Wrinkly Skin Syndrome |
|
Coxa vara, Slender long bones with narrow diaphyses, Delayed speech and language development, Dee... |
ORPHA:2834 |
| Angioosteohypertrophic Syndrome |
|
Finger syndactyly, Macrocephaly, Hand polydactyly, Hemihypertrophy of upper limb, Hand oligodacty... |
ORPHA:2346 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Orthostatic hypotension, Decreased number of large peripheral myelinated nerve fibers, Growth delay |
OMIM:223900 |
| Bartsocas-Papas Syndrome 1 |
|
Short phalanx of finger, Hypoplastic iliac wing, Absent thumb, Short metacarpal, Ulnar bowing, Ab... |
OMIM:263650 |
| X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency |
|
Abnormal myelination |
ORPHA:67045 |
| Mckusick-Kaufman Syndrome |
|
Finger syndactyly, Abnormal metacarpal morphology, Postaxial foot polydactyly, Brachydactyly, Pos... |
ORPHA:2473 |
| Bardet-Biedl Syndrome |
|
Postaxial hand polydactyly, Finger syndactyly |
ORPHA:110 |
| Monosomy 22 |
|
Finger syndactyly, Clinodactyly of the 5th finger, Clubbing, Single transverse palmar crease, Mic... |
ORPHA:96123 |
| Yunis-Varon Syndrome |
|
Hypoplasia of the frontal lobes, Short 2nd finger, Absent thumb, Tapered finger, Tapered toe, Toe... |
OMIM:216340 |
| Townes-Brocks Syndrome 1 |
|
Triphalangeal thumb, 2-3 toe syndactyly, Preaxial hand polydactyly, Aplasia/Hypoplasia of the 3rd... |
OMIM:107480 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Camptodactyly, Clinodactyly of the 5th finger, Down-sloping shoulders, Metatarsus adductus, Synda... |
OMIM:227330 |
| Autosomal Dominant Popliteal Pterygium Syndrome |
|
Toe syndactyly, Split hand, Finger syndactyly |
ORPHA:1300 |
| Bloom Syndrome |
|
Syndactyly, Hand polydactyly, Clinodactyly of the 5th finger, Microcephaly |
OMIM:210900 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
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Hip dysplasia, Macrocephaly, Clinodactyly of the 5th finger, Hypoplastic anterior commissure, Syn... |
OMIM:616975 |
| Orofaciodigital Syndrome Type 2 |
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Short tibia, Broad first metatarsal, Finger syndactyly, Preaxial foot polydactyly, Hand polydacty... |
ORPHA:2751 |
| Constricting Bands, Congenital |
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Syndactyly, Hand polydactyly, Talipes equinovarus |
OMIM:217100 |
| Neu-Laxova Syndrome 1 |
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Finger syndactyly, Joint contracture of the hand, Primary microcephaly, Toe syndactyly, Cerebella... |
OMIM:256520 |
| Vacterl/Vater Association |
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Anencephaly, Preaxial hand polydactyly, Aplasia/Hypoplasia of the radius, Finger syndactyly |
ORPHA:887 |
| Jacobsen Syndrome |
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Short toe, Finger syndactyly, Toe syndactyly, Long hallux, Macrocephaly, Hip dislocation, Hand po... |
ORPHA:2308 |
| Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
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Syndactyly, Congenital hip dislocation, Cubitus valgus |
OMIM:104350 |
| Rubinstein-Taybi Syndrome 1 |
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Hypoplastic iliac wing, Polydactyly, Hyperintensity of cerebral white matter on MRI, Radial devia... |
OMIM:180849 |
| Smith-Lemli-Opitz Syndrome |
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Aplasia/Hypoplasia of the cerebellum, 2-3 toe syndactyly, Aplasia/Hypoplasia of the corpus callos... |
ORPHA:818 |
| Adult Syndrome |
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Toe syndactyly, Split foot, Finger syndactyly |
ORPHA:978 |
| Simpson-Golabi-Behmel Syndrome |
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Camptodactyly of finger, Short toe, Finger syndactyly, Toe syndactyly, Agenesis of corpus callosu... |
ORPHA:373 |
| Hartsfield Syndrome |
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Syndactyly, Ectrodactyly, Microcephaly, Agenesis of corpus callosum |
OMIM:615465 |
| Diaphragmatic Hernia 4, With Cardiovascular Defects |
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2-3 toe syndactyly, Finger syndactyly, Macrocephaly, Clinodactyly of the 5th finger, Optic nerve ... |
OMIM:620025 |
| Fraser Syndrome 2 |
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Cutaneous syndactyly |
OMIM:617666 |
| Microphthalmia, Syndromic 6 |
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Polydactyly, Contracture of thumb, Cerebral cortical atrophy, Aplasia/Hypoplasia of the corpus ca... |
OMIM:607932 |
| Limb-Mammary Syndrome |
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Toe syndactyly, 3-4 finger cutaneous syndactyly, Clinodactyly of the 5th finger, Oligodactyly, Sy... |
ORPHA:69085 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
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Dysdiadochokinesis, Truncal ataxia, Abnormal myelination, Gait disturbance, Action tremor, Diffic... |
ORPHA:309854 |
| Saethre-Chotzen Syndrome |
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Hallux valgus, Partial duplication of the distal phalanx of the 3rd finger, Toe syndactyly, Radio... |
OMIM:101400 |
| Rapp-Hodgkin Syndrome |
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Syndactyly, 2-3 toe cutaneous syndactyly, Palmoplantar keratoderma |
OMIM:129400 |
| Mosaic Trisomy 16 |
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Short forearm, Short femoral neck, Clinodactyly, Syndactyly, Single transverse palmar crease, Sho... |
ORPHA:1708 |
| Mckusick-Kaufman Syndrome |
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Postaxial hand polydactyly, Syndactyly, Mesoaxial hand polydactyly, Congenital hip dislocation |
OMIM:236700 |
| Orofaciodigital Syndrome Type 4 |
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Camptodactyly of finger, Genu varum, Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, ... |
ORPHA:2753 |
| Autosomal Dominant Robinow Syndrome |
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Camptodactyly of finger, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Coxa va... |
ORPHA:3107 |
| Genitourinary And/Or Brain Malformation Syndrome |
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Macrocephaly, Syndactyly, Secondary microcephaly, Absent septum pellucidum, Dysplastic corpus cal... |
OMIM:618820 |
| Eec Syndrome |
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Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Split foot, Proximal placemen... |
ORPHA:1896 |
| Dubowitz Syndrome |
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Syndactyly, Single transverse palmar crease, Clinodactyly of the 5th finger, Microcephaly |
OMIM:223370 |
| Aspartylglucosaminuria |
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Abnormal morphology of ulna, Delayed speech and language development |
ORPHA:93 |
| Lacrimoauriculodentodigital Syndrome |
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Absent thumb, Finger syndactyly, Toe syndactyly, Hypoplasia of the radius, Clinodactyly, Abnormal... |
ORPHA:2363 |
| Autosomal Recessive Faciodigitogenital Syndrome |
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Finger syndactyly, Clinodactyly of the 5th finger, Down-sloping shoulders, Brachydactyly, Short foot |
ORPHA:1974 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
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Syndactyly |
OMIM:224120 |
| Ulbright-Hodes Syndrome |
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Short sternum, Humeroradial synostosis, Short metacarpal, Hypoplasia of the radius, Talipes equin... |
ORPHA:3404 |
| Peters-Plus Syndrome |
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Short toe, Limited elbow movement, Short foot, Short metacarpal, Agenesis of corpus callosum, Mac... |
OMIM:261540 |
| Cranioectodermal Dysplasia 2 |
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Polydactyly, Clinodactyly, Macrocephaly, Syndactyly, Brachydactyly, Postaxial hand polydactyly |
OMIM:613610 |
| Roberts-Sc Phocomelia Syndrome |
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Wrist flexion contracture, Absent thumb, Tetraphocomelia, Elbow flexion contracture, Abnormal met... |
OMIM:268300 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
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Syndactyly, Unilateral brachydactyly, Aplasia/Hypoplasia involving the shoulder musculature |
ORPHA:1521 |
| Cockayne Syndrome Type 3 |
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Abnormality of peripheral nerve conduction, Demyelinating peripheral neuropathy, Abnormal myelina... |
ORPHA:90324 |
| Cutis Marmorata Telangiectatica Congenita |
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Toe syndactyly, Short lower limbs, Abnormality of the upper limb, Finger syndactyly |
ORPHA:1556 |
| Choreoacanthocytosis |
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Decreased number of peripheral myelinated nerve fibers, Weight loss, Abnormal autonomic nervous s... |
ORPHA:2388 |
| Robinow Syndrome |
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Bifid distal phalanx of the thumb, Radioulnar dislocation, Macrocephaly, Syndactyly, Brachydactyl... |
ORPHA:97360 |
| Degcags Syndrome |
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Polydactyly, Genu valgum, Preaxial hand polydactyly, Toe syndactyly, Agenesis of corpus callosum,... |
OMIM:619488 |
| Doors Syndrome |
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Triphalangeal thumb, Short 5th finger, Abnormal finger morphology, Aplasia/Hypoplasia of the phal... |
ORPHA:79500 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
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Genu varum, Finger syndactyly |
ORPHA:1969 |
| Trichorhinophalangeal Syndrome, Type Ii |
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Hip subluxation, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Short metacarpa... |
OMIM:150230 |
| Fraser Syndrome 3 |
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Short toe, Cutaneous syndactyly |
OMIM:617667 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Polydactyly, Deviation of the hallux, Avascular necrosis of the capital femoral epiphysis, Hip dy... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Polydactyly, Deviation of the hallux, Avascular necrosis of the capital femoral epiphysis, Hip dy... |
ORPHA:353277 |
| Fontaine Progeroid Syndrome |
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Cerebellar hypoplasia, Syndactyly, Absent distal phalanges, Microcephaly, Hypoplasia of the corpu... |
OMIM:612289 |
| Loeys-Dietz Syndrome 2 |
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Protrusio acetabuli, Joint contracture of the hand, Camptodactyly, Brachydactyly, Syndactyly, Abs... |
OMIM:610168 |
| Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
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Stillbirth |
OMIM:617468 |
| Coffin-Siris Syndrome 12 |
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Hip subluxation, Macrocephaly, Radioulnar synostosis, Hippocampal atrophy, Broad thumb, Microceph... |
OMIM:619325 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Hallux valgus, Primary microcephaly, Camptodactyly, Broad hallux, Abnormal corpus callosum morpho... |
ORPHA:261537 |
| Orofaciodigital Syndrome Type 14 |
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Deviation of the hallux, Abnormal myelination, Postaxial foot polydactyly, Broad hallux, Duplicat... |
ORPHA:434179 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
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Humeroradial synostosis, Joint contracture of the hand, Camptodactyly, Carpal synostosis, Radioul... |
OMIM:201750 |
| Vater/Vacterl Association |
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Triphalangeal thumb, Hypoplasia of the radius, Radioulnar synostosis, Syndactyly, Preaxial polyda... |
OMIM:192350 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Hallux valgus, Primary microcephaly, Camptodactyly, Broad hallux, Abnormal corpus callosum morpho... |
ORPHA:261552 |
| Kindler Epidermolysis Bullosa |
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Camptodactyly of finger, Short 4th metacarpal, Finger syndactyly, Short 5th metacarpal, Palmoplan... |
ORPHA:2908 |
| Specc1L-Related Hypertelorism Syndrome |
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Short toe, Clinodactyly of the 5th finger, Finger syndactyly, Brachydactyly |
ORPHA:1519 |
| Mowat-Wilson Syndrome |
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Genu valgum, Tapered finger, Hallux valgus, Camptodactyly, Cerebellar vermis hypoplasia, Adducted... |
ORPHA:2152 |
| Microphthalmia, Syndromic 1 |
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Abnormal palmar dermatoglyphics, Joint contracture of the hand, Clinodactyly, Camptodactyly, Down... |
OMIM:309800 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Broad first metatarsal, Polydactyly, Frontotemporal cerebral atrophy, Syndactyly, Broad thumb, Po... |
OMIM:619534 |
| Hypomyelination Neuropathy-Arthrogryposis Syndrome |
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ORPHA:2680 |
