| Guillain-Barre Syndrome, Familial |
|
Acute demyelinating polyneuropathy |
OMIM:139393 |
| Neuropathy, Hereditary Sensory, X-Linked |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:310470 |
| Microcephaly 24, Primary, Autosomal Recessive |
|
Clinodactyly of the 5th finger, Primary microcephaly, Cerebellar vermis hypoplasia |
OMIM:618179 |
| Syndactyly Type 1 |
|
2-3 toe syndactyly, Toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges ... |
ORPHA:93402 |
| Spinal Muscular Atrophy With Impaired Intellectual Development |
|
Microcephaly, Syndactyly |
OMIM:271109 |
| Syndactyly, Type Iii |
|
Short 5th finger, Toe syndactyly, Absent middle phalanx of 5th finger, 4-5 finger syndactyly, 3-4... |
OMIM:186100 |
| Slowed Nerve Conduction Velocity, Autosomal Dominant |
|
Peripheral demyelination, Onion bulb formation |
OMIM:608236 |
| Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7 |
|
Attention deficit hyperactivity disorder, Depression |
OMIM:613003 |
| Attention Deficit-Hyperactivity Disorder |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:143465 |
| Brachmann-De Lange-Like Facial Changes With Microcephaly, Metatarsus Adductus, And Developmental Delay |
|
Unusual dermatoglyphics, Microcephaly, Metatarsus adductus |
OMIM:112370 |
| Teratocarcinoma-Derived growth factor 1 |
|
Microcephaly, Absent septum pellucidum, Hypoplasia of the corpus callosum |
OMIM:187395 |
| Polydactyly, Preaxial Ii |
|
Opposable triphalangeal thumb, Postaxial foot polydactyly, Preaxial hand polydactyly, Preaxial fo... |
OMIM:174500 |
| Hallux Varus And Preaxial Polysyndactyly |
|
Hallux varus, Syndactyly, Broad hallux, Preaxial hand polydactyly |
OMIM:234280 |
| Synpolydactyly 1 |
|
Postaxial foot polydactyly, Broad hallux, Finger syndactyly, Preaxial foot polydactyly, Mesoaxial... |
OMIM:186000 |
| Triphalangeal Thumb With Polysyndactyly |
|
Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Triphalangeal thumb, Postaxial hand po... |
OMIM:190605 |
| Microcephaly 28, Primary, Autosomal Recessive |
|
Microcephaly |
OMIM:619453 |
| Cri du Chat Syndrome (5p deletion) |
|
Microcephaly |
DECIPHER:2 |
| Intellectual Developmental Disorder, Autosomal Recessive 51 |
|
Microcephaly |
OMIM:616739 |
| 1q21.1 recurrent microdeletion (susceptibility locus for neurodevelopmental disorders) |
|
Microcephaly |
DECIPHER:62 |
| Intellectual Developmental Disorder, Autosomal Recessive 28 |
|
Microcephaly |
OMIM:614347 |
| Intellectual Developmental Disorder, Autosomal Recessive 7 |
|
Microcephaly |
OMIM:611093 |
| Recurrent 16p12.1 microdeletion (neurodevelopmental susceptibility locus) |
|
Microcephaly |
DECIPHER:92 |
| Attention Deficit-Hyperactivity Disorder 8 |
|
Attention deficit hyperactivity disorder |
OMIM:619957 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Syndactyly Type 2 |
|
Postaxial foot polydactyly, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t... |
ORPHA:93403 |
| Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Peripheral demyelination, Leukodystrophy |
DECIPHER:59 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Peripheral axonal de... |
OMIM:606482 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate A |
|
Onion bulb formation, Peripheral axonal neuropathy, Peripheral demyelination, Axonal degeneration... |
OMIM:620378 |
| Polydactyly, Postaxial, Type A5 |
|
Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis, Postaxial hand polydactyly |
OMIM:263450 |
| Syndactyly, Type Iv |
|
Supernumerary metacarpal bones, 1-5 finger complete cutaneous syndactyly, Polydactyly, 2-3 toe sy... |
OMIM:186200 |
| Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Microcephaly, 2-4 toe syndactyly, Syndactyly |
OMIM:241000 |
| Syndactyly Type 3 |
|
Short toe, Finger syndactyly, Camptodactyly of finger |
ORPHA:93404 |
| Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Abnormality of the distal phalanges of the toes, Absent distal interphalangeal creases, Toe synda... |
ORPHA:3246 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Polymicrogyria, Macrocephaly, Postaxial hand polydactyly, Thick corpus callosum, Megalencephaly, ... |
OMIM:615938 |
| Methionine Adenosyltransferase I/Iii Deficiency |
|
Peripheral demyelination, CNS demyelination |
OMIM:250850 |
| Intellectual Developmental Disorder, Autosomal Recessive 33 |
|
Short toe, Syndactyly |
OMIM:614341 |
| Polydactyly, Preaxial Iv |
|
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... |
OMIM:174700 |
| Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
|
Finger syndactyly, Abnormal hip bone morphology, Bilateral single transverse palmar creases, Clin... |
ORPHA:1891 |
| Syndactyly Type 5 |
|
Short distal phalanx of finger, Ulnar deviation of finger, Camptodactyly of finger, 2-3 toe synda... |
ORPHA:93406 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Clusters of axonal regeneration, Decreased number of peripheral myelinated nerve fibers, Segmenta... |
OMIM:607734 |
| Brachydactyly, Type A2 |
|
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Broad hallux, Ulnar deviation of the ... |
OMIM:112600 |
| Acropectoral Syndrome |
|
Finger syndactyly, Preaxial hand polydactyly |
ORPHA:85203 |
| Spastic Paraplegia With Neuropathy And Poikiloderma |
|
Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Onion bulb formation |
OMIM:182815 |
| Gilles De La Tourette Syndrome |
|
Phonic tics, Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder, Moto... |
OMIM:137580 |
| Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Cutaneous finger syndactyly, Duplication of metatarsal bones, Aplasia/Hypoplasia of toe, Microcep... |
OMIM:600384 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate D |
|
Segmental peripheral demyelination/remyelination, Axonal degeneration/regeneration |
OMIM:607791 |
| Brachydactyly, Type A2, With Microcephaly |
|
Clinodactyly of the 2nd toe, Thumbs hypoplastic with bulbous tips, Type A2 brachydactyly, Microce... |
OMIM:211369 |
| Brachydactyly Type A7 |
|
Broad distal phalanx of the thumb, Broad thumb, Broad phalanges of the 2nd toe, Sandal gap, Aplas... |
ORPHA:93397 |
| Chromosome 2Q35 Duplication Syndrome |
|
2-3 toe syndactyly, Cutaneous syndactyly, Distal symphalangism of hands, 3-4 finger syndactyly |
OMIM:185900 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate D |
|
Onion bulb formation |
OMIM:616039 |
| Wahab Syndrome |
|
Short thumb, Clinodactyly, Adducted thumb, Camptodactyly, Short foot, Short metacarpal, Short pal... |
OMIM:615170 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Polydactyly, Postaxial, Type A1 |
|
Broad thumb, Postaxial foot polydactyly, Cutaneous syndactyly of toes, Broad hallux, Preaxial han... |
OMIM:174200 |
| Liebenberg Syndrome |
|
Elbow flexion contracture, Joint contracture of the 5th finger, Radially deviated wrists, 2-3 fin... |
OMIM:186550 |
| Ectrodactyly-Polydactyly Syndrome |
|
Finger syndactyly, Ectrodactyly, Camptodactyly of finger, Abnormal metacarpal morphology, Brachyd... |
ORPHA:1892 |
| Pelizaeus-Merzbacher disease |
|
Abnormal CNS myelination, Leukodystrophy |
DECIPHER:38 |
| Split-Hand/Foot Malformation 4 |
|
Aplasia/Hypoplasia of the phalanges of the toes, Ectrodactyly, Aplasia/Hypoplasia involving the m... |
OMIM:605289 |
| Split-Hand/Foot Malformation 6 |
|
Finger aplasia, Toe syndactyly, Finger syndactyly, Foot oligodactyly, Split hand, Split foot |
OMIM:225300 |
| Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction |
|
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Aplasia/Hypoplasia of the hallux, Sym... |
OMIM:609432 |
| Camptosynpolydactyly, Complex |
|
Camptodactyly, Syndactyly, Cutaneous syndactyly, Polydactyly |
OMIM:607539 |
| Congenital Radioulnar Synostosis |
|
Congenital hip dislocation, Abnormality of the musculature of the upper arm, Polydactyly, Limited... |
ORPHA:3269 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Gg |
|
Onion bulb formation, Segmental peripheral demyelination/remyelination, Segmental peripheral demy... |
OMIM:606483 |
| Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Brachydactyly-Syndactyly Syndrome |
|
Finger syndactyly, Oligodactyly, Short digit, Brachydactyly, Camptodactyly, Short phalanx of fing... |
OMIM:610713 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Radioulnar synostosis, Clinodactyly of the 5th finger, Finger syndactyly, Hip dysplasia |
ORPHA:71289 |
| Autism, Susceptibility To, 20 |
|
Compulsive behaviors, Attention deficit hyperactivity disorder |
OMIM:618830 |
| Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
Toe syndactyly, Synostosis of carpal bones, Short thumb, Finger syndactyly, Aplasia/Hypoplasia of... |
ORPHA:157801 |
| Microcephaly-Cardiomyopathy |
|
Clinodactyly of the 5th finger, Microcephaly, Sandal gap |
OMIM:251220 |
| Gombo Syndrome |
|
Microcephaly, Brachydactyly, Radial deviation of finger, Clinodactyly |
OMIM:233270 |
| Intellectual Developmental Disorder, Autosomal Recessive 4 |
|
Delayed myelination |
OMIM:611107 |
| Syndactyly Type 4 |
|
Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot... |
ORPHA:93405 |
| Charcot-Marie-Tooth Disease, Type 4A |
|
Hypertrophic nerve changes, Basal lamina onion bulb formation, CNS hypomyelination, Axonal degene... |
OMIM:214400 |
| Paraparetic Variant Of Guillain-Barré Syndrome |
|
Peripheral axonal neuropathy, Peripheral demyelination |
ORPHA:231445 |
| Syndactyly, Type V |
|
Short distal phalanx of finger, Joint contracture of the hand, Carpal synostosis, 3-4 toe syndact... |
OMIM:186300 |
| Split-Hand/Foot Malformation 2 |
|
Finger syndactyly, Split hand, Short phalanx of finger, Short metacarpal, Split foot |
OMIM:313350 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Axonal degeneration/regeneration, Decreased number of peripheral myelinated nerve fibers, Periphe... |
OMIM:118210 |
| Chromosome 2Q31.1 Duplication Syndrome |
|
Absent thumb, Short thumb, Talipes equinovarus, Triphalangeal thumb, 3-4 finger cutaneous syndactyly |
OMIM:613681 |
| Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Abnormal cranial nerve morphology, Onion bulb formation, Peripheral hypomyelination |
OMIM:605253 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2I |
|
Axonal degeneration/regeneration, Decreased number of peripheral myelinated nerve fibers |
OMIM:607677 |
| Roussy-Levy Hereditary Areflexic Dystasia |
|
Hypertrophic nerve changes, Segmental peripheral demyelination/remyelination, Onion bulb formatio... |
OMIM:180800 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Hypertrophic nerve changes, Peripheral demyelination, Decreased number of peripheral myelinated n... |
OMIM:118200 |
| Metacarpal 4-5 Fusion |
|
2-3 toe cutaneous syndactyly, Short 5th metacarpal, Clinodactyly of the 5th finger, 4-5 metacarpa... |
OMIM:309630 |
| Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Bruxism, Aggressive behavior, Hyperactivity |
OMIM:615493 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2L |
|
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy |
OMIM:608673 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Bruxism, Aggressive behavior, Hyperactivity |
ORPHA:356996 |
| Split-Foot Malformation-Mesoaxial Polydactyly Syndrome |
|
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Aplasia/Hypoplasia of the distal phalanx of t... |
ORPHA:488232 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2H |
|
Axonal regeneration, Decreased number of peripheral myelinated nerve fibers |
OMIM:607731 |
| Metaphyseal Anadysplasia |
|
Aplasia/Hypoplasia of the radius, Abnormal epiphysis morphology, Abnormal ulnar metaphysis morpho... |
ORPHA:1040 |
| Split-Hand/Foot Malformation 1 |
|
Finger aplasia, Broad hallux, Ectrodactyly, Clinodactyly, Foot oligodactyly, Triphalangeal thumb,... |
OMIM:183600 |
| Brachydactyly-Syndactyly, Zhao Type |
|
Short fifth metatarsal, Toe syndactyly, Short 5th metacarpal, Short middle phalanx of the 2nd fin... |
ORPHA:93409 |
| Syndactyly-Polydactyly-Earlobe Syndrome |
|
Bifid distal phalanx of toe, Preaxial hand polydactyly, Preaxial foot polydactyly, 1-2 toe comple... |
OMIM:186350 |
| Acute Inflammatory Demyelinating Polyradiculoneuropathy |
|
Acute demyelinating polyneuropathy, Onion bulb formation |
ORPHA:98916 |
| Heart-Hand Syndrome, Slovenian Type |
|
Brachydactyly, Syndactyly, Clinodactyly, Aplasia of the middle phalanx of the hand |
OMIM:610140 |
| Brachydactyly Type B |
|
Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Type B brachydacty... |
ORPHA:93383 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Hypertrophic nerve changes, Decreased number of peripheral myelinated nerve fibers, Segmental per... |
OMIM:118220 |
| Split-Foot Malformation With Mesoaxial Polydactyly |
|
Mesoaxial hand polydactyly, 1-2 toe syndactyly, 4-5 toe syndactyly, Split hand, Split foot |
OMIM:616890 |
| Brachydactyly Type B2 |
|
Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Short toe, Type B ... |
ORPHA:140908 |
| Feingold Syndrome 2 |
|
Short thumb, 3-4 toe syndactyly, Secondary microcephaly, Short middle phalanx of the 2nd finger, ... |
OMIM:614326 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Basal lamina onion bulb formation, Peripheral demyelination, Decreased number of peripheral myeli... |
OMIM:614895 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate F |
|
Axonal regeneration, Peripheral demyelination, Onion bulb formation |
OMIM:615185 |
| Aphalangy-Syndactyly-Microcephaly Syndrome |
|
Short distal phalanx of finger, Toe syndactyly, Postaxial foot polydactyly, Camptodactyly of fing... |
ORPHA:1113 |
| Intellectual Developmental Disorder, Autosomal Recessive 2 |
|
Self-injurious behavior, Attention deficit hyperactivity disorder |
OMIM:607417 |
| Null Syndrome |
|
Optic atrophy, Peripheral demyelination, CNS hypomyelination, Demyelinating peripheral neuropathy |
ORPHA:280234 |
| Jawad Syndrome |
|
Postaxial polydactyly, Hallux valgus, 4-5 toe syndactyly, Primary microcephaly, Single interphala... |
OMIM:251255 |
| Smith-Magenis syndrome |
|
Motor stereotypy, Hyperactivity, Self-mutilation |
DECIPHER:8 |
| Santos Syndrome |
|
Preaxial polydactyly, Oligodactyly, Genu valgum, Polydactyly, Postaxial polydactyly, Talipes equi... |
OMIM:613005 |
| Feingold Syndrome Type 2 |
|
Toe syndactyly, Short thumb, Microcephaly, Brachydactyly, Short middle phalanx of finger |
ORPHA:391646 |
| Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Optic atrophy, Segmental peripheral demyelination/remyelination, Onion bulb formation |
OMIM:311070 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Radioulnar synostosis, Microcephaly, Clinodactyly of the 5th finger, Abnormali... |
ORPHA:3268 |
| 15Q11Q13 Microduplication Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Macrocephaly |
ORPHA:238446 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Motor stereotypy, Hyperactivity |
OMIM:300271 |
| Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Segmental peripheral demyelination/remyelination |
OMIM:162500 |
| Crossed Polysyndactyly |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Postaxial hand polydactyly |
ORPHA:2935 |
| Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Ulnar claw, Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Peripheral dem... |
OMIM:145900 |
| Multiple Synostoses Syndrome 3 |
|
Broad thumb, Cutaneous syndactyly of toes, Broad hallux, Humeroradial synostosis, Cubitus valgus,... |
OMIM:612961 |
| Autosomal Recessive Spastic Paraplegia Type 71 |
|
Abnormal myelination |
ORPHA:401840 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
|
Hypertrophic nerve changes, Segmental peripheral demyelination/remyelination, Onion bulb formation |
OMIM:601098 |
| Charcot-Marie-Tooth Disease, Type 4J |
|
Axonal loss, Onion bulb formation, Peripheral hypomyelination |
OMIM:611228 |
| 46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:607080 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Onion bulb formation, Peripheral axonal atrophy, Axonal degeneration/regeneration, Decreased numb... |
OMIM:605588 |
| Femur-Fibula-Ulna Complex |
|
Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer... |
ORPHA:2019 |
| Symbrachydactyly Of Hands And Feet |
|
Aplasia/Hypoplasia of the radius, Abnormality of the humeroulnar joint, Abnormal morphology of ul... |
ORPHA:1570 |
| Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
| Adams-Oliver Syndrome 3 |
|
Short distal phalanx of finger, Short 5th toe, 2-3 toe syndactyly, Microcephaly, Short metatarsal... |
OMIM:614814 |
| Charcot-Marie-Tooth Disease, Type 4H |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Peripheral hypomyel... |
OMIM:609311 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Decreased number of large peripheral myelinated nerve fibers, Peripheral demyelination, Onion bul... |
OMIM:608340 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2J |
|
Peripheral demyelination, Axonal degeneration/regeneration |
OMIM:607736 |
| Polydactyly, Postaxial, Type A7 |
|
Short fifth metatarsal, Postaxial hand polydactyly, Postaxial foot polydactyly, 2-3 toe cutaneous... |
OMIM:617642 |
| Pandas |
|
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... |
ORPHA:66624 |
| Charcot-Marie-Tooth Disease, Type 4K |
|
Axonal loss, Peripheral demyelination |
OMIM:616684 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Abno... |
ORPHA:206594 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... |
OMIM:309548 |
| Chronic Inflammatory Demyelinating Polyneuropathy |
|
Segmental peripheral demyelination/remyelination, Peripheral demyelination |
ORPHA:2932 |
| Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Delayed epiphyseal ossification, Clinodactyly, Cerebral atrophy, Macrocephaly, Genu valgum, Hypop... |
ORPHA:166024 |
| Craniosynostosis, Philadelphia Type |
|
Finger syndactyly |
ORPHA:1527 |
| Fraxe Intellectual Disability |
|
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... |
ORPHA:100973 |
| Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Clinodactyly of the 5th finger, Macrocephaly, Syndactyly, Tapered finger |
OMIM:618725 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Basal lamina onion bulb formation, Abnormal cranial nerve morphology, Axonal degeneration, Periph... |
OMIM:601596 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Peripheral demyelination |
ORPHA:99944 |
| Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Onion bulb formation, Peripheral axonal degeneration, Axonal degeneration/regeneration, Decreased... |
OMIM:607706 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate C |
|
Axonal regeneration, Onion bulb formation |
OMIM:608323 |
| Acropectorovertebral Dysplasia |
|
Broad thumb, Toe syndactyly, Short thumb, Synostosis of carpal bones, Finger syndactyly, Radial d... |
OMIM:102510 |
| Langer Mesomelic Dysplasia |
|
Ulnar deviation of finger, Abnormal epiphysis morphology, Micromelia, Mesomelic/rhizomelic limb s... |
ORPHA:2632 |
| Heart-Hand Syndrome Type 2 |
|
Aplasia/Hypoplasia of the radius, Micromelia, Abnormal shoulder morphology, Short 5th metacarpal,... |
ORPHA:1350 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Irregular myelin loops, Facial palsy, Myelin outfoldings |
OMIM:601382 |
| Charcot-Marie-Tooth Disease, Type 4B2 |
|
Ulnar claw, Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated ... |
OMIM:604563 |
| Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Peripheral axonal neuropathy, Onion bulb formation |
OMIM:610100 |
| Dystonia 31 |
|
Arm dystonia, Abnormal posturing, Generalized dystonia, Difficulty walking, Leg dystonia, Craniof... |
OMIM:619565 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2W |
|
Distal upper limb muscle weakness, Tip-toe gait, Slender long bone, Somatic sensory dysfunction, ... |
ORPHA:488333 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity |
OMIM:619031 |
| Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly |
OMIM:215850 |
| Lethal Congenital Contracture Syndrome 8 |
|
Facial diplegia, Death in infancy, Neonatal death, Peripheral hypomyelination, Hammertoe |
OMIM:616287 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Léri-Weill Dyschondrosteosis |
|
Short tibia, Radial bowing, Elbow dislocation, Abnormal tibia morphology, Genu valgum, Patellar a... |
ORPHA:240 |
| Robin Sequence-Oligodactyly Syndrome |
|
Finger aplasia, Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Abnormal morpholo... |
ORPHA:3104 |
| Ring Chromosome 4 Syndrome |
|
Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ... |
ORPHA:1447 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Abnormality of th... |
OMIM:246570 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity |
OMIM:301008 |
| Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting |
|
Dysphagia, Hyperactivity, Impulsivity |
OMIM:620448 |
| Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, Elbow dislocation, Abnormal distal ... |
ORPHA:1275 |
| Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Peripheral demyelination, Clusters of axonal regeneration, Chronic axonal neuropathy, Peripheral ... |
ORPHA:101097 |
| Brachydactyly, Type B2 |
|
Short distal phalanx of finger, Cutaneous syndactyly of toes, Distal symphalangism of hands, Shor... |
OMIM:611377 |
| Proximal Symphalangism |
|
Synostosis of carpal bones, Finger syndactyly, Elbow dislocation, Finger clinodactyly, Camptodact... |
ORPHA:3250 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Optic... |
OMIM:617087 |
| Bardet-Biedl Syndrome 5 |
|
Syndactyly, Brachydactyly, Polydactyly |
OMIM:615983 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1G |
|
Peripheral demyelination, Onion bulb formation |
OMIM:618279 |
| Intellectual Developmental Disorder, Autosomal Dominant 4 |
|
Short toe, Syndactyly |
OMIM:612581 |
| Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Decreased number of large peripheral myelinated nerve fibers, Axonal regeneration, Peripheral hyp... |
OMIM:605285 |
| Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome |
|
Joint contracture of the hand, 1-4 finger syndactyly, 3-4 toe syndactyly, 2-4 finger syndactyly, ... |
OMIM:225280 |
| Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormal epiphysis morphology, Synostosis of carpal bones, Micromelia, Abnormal tibia morphology,... |
ORPHA:2639 |
| Fatco Syndrome |
|
Finger syndactyly, Abnormal tibia morphology, Absent hand, Split hand, Abnormal fibula morphology... |
ORPHA:2492 |
| Abetalipoproteinemia |
|
Peripheral demyelination, CNS demyelination |
OMIM:200100 |
| Camptobrachydactyly |
|
Ulnar deviation of finger, Toe syndactyly, Finger syndactyly, Camptodactyly of finger, Aplasia/Hy... |
ORPHA:1319 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Postnatal growth retardation, Peripheral demyelination, Small for gestational age, Intrauterine g... |
OMIM:616733 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Radial metaphyseal irregularity, Genu varum, Femoral bowing, Short long bone, Metaphyseal irregul... |
ORPHA:174 |
| Greig Cephalopolysyndactyly Syndrome |
|
Broad thumb, Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Preaxial hand polydac... |
ORPHA:380 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Abnormal hip bone morphology, Syndactyly, Upper limb phocomelia, Polydactyly |
ORPHA:294975 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Optic atrophy, Decreased motor nerve conduction velocity, Axonal degeneration/regeneration, Decre... |
OMIM:609260 |
| Charcot-Marie-Tooth Disease Type 4G |
|
Decreased motor nerve conduction velocity, Peripheral demyelination, Peripheral axonal neuropathy... |
ORPHA:99953 |
| Split hand/foot malformation 1 (SHFM1) |
|
Toe syndactyly, Cutaneous finger syndactyly, 2-3 toe syndactyly, Split hand, Split foot |
DECIPHER:46 |
| Synpolydactyly 2 |
|
Toe syndactyly, Carpal synostosis, Polydactyly, Tarsal synostosis, Metatarsal synostosis, Metacar... |
OMIM:608180 |
| Neuropathy, Congenital Hypomyelinating, 2 |
|
Facial diplegia, Onion bulb formation, Decreased number of peripheral myelinated nerve fibers |
OMIM:618184 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Short distal phalanx of finger, Broad thumb, Short distal phalanx of the thumb, Short 3rd metacar... |
ORPHA:370010 |
| Metachromatic Leukodystrophy Due To Saposin B Deficiency |
|
Peripheral demyelination, CNS demyelination |
OMIM:249900 |
| Ulna Metaphyseal Dysplasia Syndrome |
|
Aplasia/Hypoplasia of the radius, Abnormal hip bone morphology, Abnormal morphology of ulna, Abno... |
ORPHA:1837 |
| Fibular Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the fibula, Split hand, Abnormal morphology of ulna |
ORPHA:1118 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... |
OMIM:228930 |
| Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Decreased motor nerve conduction velocity, Peripheral demyelination, Axonal degeneration, Periphe... |
OMIM:604168 |
| Leri-Weill Dyschondrosteosis |
|
Increased carrying angle, Abnormal femoral neck morphology, Short tibia, Radial bowing, Short toe... |
OMIM:127300 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity |
ORPHA:436151 |
| Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Leukodystrophy, Autonomic bladder dysfunction, Orthostatic hypotension due to autonomic dysfuncti... |
OMIM:169500 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Axonal loss, Peripheral demyelination, Gliosis |
OMIM:221770 |
| Mesomelic Dysplasia, Nievergelt Type |
|
Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Camptodactyly of finger, Abnorma... |
ORPHA:2633 |
| Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Hyperactivity, Agitation |
OMIM:619970 |
| Spinocerebellar Ataxia Type 43 |
|
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy |
ORPHA:497764 |
| Ulnar Hemimelia |
|
Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal... |
ORPHA:93320 |
| Acrorenal Syndrome |
|
Abnormal tibia morphology, Aplasia/Hypoplasia of the radius, Split hand, Abnormal morphology of ulna |
ORPHA:971 |
| Laurin-Sandrow Syndrome |
|
Patellar aplasia, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius, Fibular dup... |
OMIM:135750 |
| Neuromyelitis Optica Spectrum Disorder |
|
Peripheral demyelination |
ORPHA:71211 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities |
|
Clinodactyly, Hypoplasia of the corpus callosum, Microcephaly, Cerebral white matter hypoplasia, ... |
OMIM:619091 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10 |
|
Sensory axonal neuropathy, Motor axonal neuropathy, Decreased number of peripheral myelinated ner... |
OMIM:620542 |
| Weismann-Netter Syndrome |
|
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip bone morphology, Abnorm... |
ORPHA:3344 |
| Boomerang Dysplasia |
|
Finger syndactyly, Micromelia, Abnormal tibia morphology, Abnormal femur morphology, Abnormal mor... |
ORPHA:1263 |
| Glycine Encephalopathy 1 |
|
Irritability, Aggressive behavior, Hyperactivity, Restlessness, Impulsivity |
OMIM:605899 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal femur morphology, Aplasia/hypoplasi... |
ORPHA:2141 |
| Autosomal Recessive Spastic Paraplegia Type 70 |
|
Abnormal myelination |
ORPHA:401835 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
| Hartnup Disorder |
|
Attention deficit hyperactivity disorder, Emotional lability, Hyperactivity |
OMIM:234500 |
| Krabbe Disease |
|
Optic atrophy, Failure to thrive, Decreased nerve conduction velocity, Peripheral demyelination, ... |
OMIM:245200 |
| Camptobrachydactyly |
|
Short toe, Hand polydactyly, Brachydactyly, Congenital finger flexion contractures, Syndactyly |
OMIM:114150 |
| Hypomelanosis Of Ito |
|
Radial deviation of finger, Clinodactyly, Cerebral atrophy, Microcephaly, Hand polydactyly, Macro... |
OMIM:300337 |
| Isolated Split Hand-Split Foot Malformation |
|
Oligodactyly, Absent hand, Split hand, Finger syndactyly |
ORPHA:2440 |
| Leukoencephalopathy-Palmoplantar Keratoderma Syndrome |
|
Decreased number of peripheral myelinated nerve fibers |
ORPHA:2386 |
| Split-Foot Deformity With Mandibulofacial Dysostosis |
|
Toe syndactyly, Split hand, Split foot |
OMIM:183700 |
| Spastic Paraplegia 55, Autosomal Recessive |
|
Peripheral axonal neuropathy, Optic atrophy, Onion bulb formation |
OMIM:615035 |
| Multiple Epiphyseal Dysplasia Type 4 |
|
Radial bowing, Abnormal hand morphology, Dislocation of the femoral head, Genu valgum, Talipes eq... |
ORPHA:93307 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Axonal regeneration, Decreased number of peripheral myelinated nerve fibers |
OMIM:607831 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Decreased motor nerve conduction velocity, Decreased compound muscle action potential amplitude, ... |
OMIM:600882 |
| Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Axonal loss, Peripheral demyelination, Decreased body weight |
OMIM:617672 |
| Trigeminal Neuralgia |
|
Peripheral demyelination, CNS demyelination, Cranial nerve compression |
ORPHA:221091 |
| Summitt Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Genu valgum, Short 4th metacarpal, Brachydactyly, Mac... |
ORPHA:3210 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Degeneration of anterior horn cells, Gliosis, Axonal degeneration, Decreased number of peripheral... |
OMIM:604484 |
| Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Elbow dislocation, Abnormal ti... |
ORPHA:2634 |
| Acropectorovertebral Dysplasia |
|
Short distal phalanx of finger, Broad thumb, Synostosis of carpal bones, Finger syndactyly, Campt... |
ORPHA:957 |
| Developmental And Epileptic Encephalopathy 43 |
|
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity |
OMIM:617113 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate C |
|
Decreased number of large peripheral myelinated nerve fibers |
OMIM:615376 |
| Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Short 5th finger, Postaxial oligodactyly, Talipes equinovarus, Brachydactyly, Aplasia/Hypoplasia ... |
ORPHA:52056 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Ulnar claw, Decreased motor nerve conduction velocity, Decreased distal sensory nerve action pote... |
OMIM:607684 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin... |
ORPHA:85188 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Attention deficit hyperactivity disorder, Emotional lability |
OMIM:617028 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Ectrodactyly, Preaxial hand polydactyly, Abno... |
ORPHA:3329 |
| Greig Cephalopolysyndactyly Syndrome |
|
Joint contracture of the hand, Broad thumb, Postaxial foot polydactyly, Y-shaped metatarsals, Bro... |
OMIM:175700 |
| 11Q22.2Q22.3 Microdeletion Syndrome |
|
Small hand, Bilateral single transverse palmar creases, Brachydactyly, Clinodactyly of the 5th fi... |
ORPHA:444002 |
| Peroxisome Biogenesis Disorder 8B |
|
Optic atrophy, Peripheral demyelination, Failure to thrive, Leukodystrophy |
OMIM:614877 |
| Acrodysostosis |
|
Cone-shaped metacarpal epiphyses, Cone-shaped epiphysis, Short toe, Micromelia, Abnormal diaphysi... |
ORPHA:950 |
| Charcot-Marie-Tooth Disease Type 2B1 |
|
Sensory axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Motor ax... |
ORPHA:98856 |
| Fibular Hemimelia |
|
Toe syndactyly, Finger syndactyly, Short tibia, Difficulty walking, Fibular aplasia, Genu valgum,... |
ORPHA:93323 |
| Lipodystrophy-Intellectual Disability-Deafness Syndrome |
|
Slender long bones with narrow diaphyses, Dense metaphyseal bands |
ORPHA:50811 |
| Hyperprolinemia, Type I |
|
Aggressive behavior, Motor stereotypy, Hyperactivity |
OMIM:239500 |
| Gordon Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Camptodactyly of finger |
ORPHA:376 |
| Intellectual Developmental Disorder, X-Linked 111 |
|
Phonic tics, Aggressive behavior, Hyperactivity, Compulsive behaviors |
OMIM:301107 |
| Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Radial metaphyseal irregularity, Genu valgum, Fragmented epiphys... |
OMIM:177170 |
| Aminopterin Syndrome Sine Aminopterin |
|
Joint contracture of the hand, Clinodactyly, Short thumb, Arachnodactyly, Microcephaly, Brachydac... |
OMIM:600325 |
| Sclerosteosis |
|
Curved distal phalanges of the hand, Finger syndactyly, Diaphyseal undertubulation, 2-3 finger sy... |
ORPHA:3152 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Rhizomelia, Metaphyseal cupping, Radial bowing, Flared metaphysis, Small epiphyses, Femoral bowin... |
OMIM:602111 |
| Morm Syndrome |
|
Aggressive behavior, Hyperactivity |
ORPHA:75858 |
| Brachydactyly, Type B1 |
|
Joint contracture of the hand, Broad thumb, Cutaneous finger syndactyly, Type B brachydactyly, Sh... |
OMIM:113000 |
| Carpenter Syndrome |
|
Broad thumb, Toe syndactyly, Finger syndactyly, Preaxial foot polydactyly, Genu valgum, Polydacty... |
ORPHA:65759 |
| Charcot-Marie-Tooth Disease Type 1B |
|
Peripheral dysmyelination, Peripheral axonal neuropathy |
ORPHA:101082 |
| Langer Mesomelic Dysplasia |
|
Increased carrying angle, Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shorteni... |
OMIM:249700 |
| Autosomal Recessive Spastic Paraplegia Type 57 |
|
Abnormal myelination |
ORPHA:431329 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Talipes cavus equinovar... |
OMIM:601455 |
| Developmental And Epileptic Encephalopathy 71 |
|
CNS demyelination, Gliosis |
OMIM:618328 |
| Autosomal Recessive Spastic Paraplegia Type 69 |
|
Abnormal myelination |
ORPHA:401830 |
| Martsolf Syndrome 1 |
|
Broad femoral neck, Short toe, Slender ulna, Avascular necrosis of the capital femoral epiphysis,... |
OMIM:212720 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity |
OMIM:619927 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Brachydactyly, Clinodactyly, Syndactyly |
OMIM:610023 |
| Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis |
ORPHA:208441 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac... |
OMIM:612576 |
| Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome |
|
Basal lamina onion bulb formation, Demyelinating peripheral neuropathy |
ORPHA:2821 |
| Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Abnormal metacarpal morphology, Abnormal morphology of ulna |
ORPHA:2233 |
| Gollop-Wolfgang Complex |
|
Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ... |
ORPHA:1986 |
| Huntington Disease-Like 1 |
|
Abnormal posturing, Abnormal shoulder morphology, Chorea, Gait ataxia, Dysmetria, Gait disturbance |
ORPHA:157941 |
| Monosomy 5P |
|
Microcephaly, Small hand, Finger syndactyly |
ORPHA:281 |
| Autosomal Recessive Spastic Paraplegia Type 67 |
|
Abnormal myelination |
ORPHA:401820 |
| Periventricular Nodular Heterotopia 1 |
|
Clinodactyly, Short finger, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Thin corpus... |
OMIM:300049 |
| Bardet-Biedl Syndrome 4 |
|
Syndactyly, Brachydactyly, Polydactyly |
OMIM:615982 |
| Tangier Disease |
|
Peripheral axonal neuropathy, Peripheral demyelination, Facial diplegia |
OMIM:205400 |
| Nevus Comedonicus Syndrome |
|
Microcephaly, Toe syndactyly, Finger syndactyly, Preaxial polydactyly |
ORPHA:64754 |
| Terminal Osseous Dysplasia |
|
Toe clinodactyly, Short toe, Clinodactyly, Camptodactyly of finger, Mesomelic leg shortening, Cam... |
OMIM:300244 |
| Posterior Column Ataxia With Retinitis Pigmentosa |
|
Optic atrophy, Peripheral demyelination, Flexion contracture of finger, Camptodactyly, Decreased ... |
OMIM:609033 |
| Charlie M Syndrome |
|
Finger syndactyly, Abnormal metacarpal morphology, Triphalangeal thumb, Split hand, Brachydactyly |
ORPHA:1406 |
| Laurin-Sandrow Syndrome |
|
Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl... |
ORPHA:2378 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Axonal loss, Onion bulb formation |
OMIM:614455 |
| Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones |
|
Abnormality of carpal bone ossification, Genu valgum, Cubitus valgus, Metaphyseal striations, Sle... |
OMIM:608154 |
| Mohr-Tranebjaerg Syndrome |
|
Intrinsic hand muscle atrophy, Dystonia, Abnormal posturing, Tremor |
OMIM:304700 |
| Molybdenum Cofactor Deficiency, Type B |
|
Peripheral demyelination, Neonatal death, Gliosis, Axonal loss, Growth delay |
OMIM:252160 |
| Phenylketonuria |
|
Depression, Self-mutilation, Irritability, Aggressive behavior, Attention deficit hyperactivity d... |
OMIM:261600 |
| Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity |
OMIM:300928 |
| Spinocerebellar Ataxia Type 25 |
|
Decreased number of large peripheral myelinated nerve fibers |
ORPHA:101111 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Peripheral axonal neuropathy, Decreased number of peripheral myelinated nerve fibers |
OMIM:607250 |
| Charcot-Marie-Tooth Disease, Type 4B3 |
|
Onion bulb formation, Myelin outfoldings |
OMIM:615284 |
| Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Decreased amplitude of sensory action potentials, Failure to thrive in infancy, Decreased nerve c... |
ORPHA:90103 |
| Joubert Syndrome 33 |
|
Macrocephaly, Syndactyly |
OMIM:617767 |
| Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Palmoplantar keratoderma, Short thumb, Finger syndactyly, Camptodactyly of finger, Triphalangeal ... |
ORPHA:2251 |
| Osebold-Remondini Syndrome |
|
Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos... |
OMIM:112910 |
| 8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
| Acromesomelic Dysplasia 2C |
|
Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, S... |
OMIM:201250 |
| Limb-Mammary Syndrome |
|
Joint contracture of the hand, Hallux valgus, Split hand, Camptodactyly, Split foot, Syndactyly |
OMIM:603543 |
| Acromesomelic Dysplasia 2A |
|
Acromesomelia, Short tibia, Stillbirth, Aplasia/Hypoplasia involving the metacarpal bones, Distal... |
OMIM:200700 |
| Postaxial Oligodactyly, Tetramelic |
|
Postaxial foot polydactyly, Cone-shaped epiphysis, Radial bowing, Postaxial oligodactyly, Lunate-... |
OMIM:176240 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Blepharospasm, Abnormal posturing, Generalized dystonia, Inability to walk, Tremor, Torticollis, ... |
OMIM:128100 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Tip-toe gait, Generalized dystonia, Abnormal posturing, Inability to walk, Opisthotonus, Gait dis... |
ORPHA:216866 |
| Microcephaly 10, Primary, Autosomal Recessive |
|
Gliosis, Intrauterine growth retardation, Delayed CNS myelination, Small for gestational age |
OMIM:615095 |
| Hereditary Geniospasm |
|
Abnormal social behavior |
ORPHA:53372 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Intrauterine growth retardation, Abnormality of peripheral nerve conduction, Peripheral hypomyeli... |
ORPHA:48431 |
| Endove Syndrome, Limb-Only Type |
|
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o... |
OMIM:619217 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear-induced behavior, Irritability, Aggressive behavior, Hyperactivity, Anorexia, Abnor... |
ORPHA:3077 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Decreased nerve conduction velocity, Peripheral demyelination, Short-segment aganglionic megacolo... |
OMIM:609136 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Small hand, Short foot, Abnormal ulnar metaphysis morphology, Narrow palm |
ORPHA:177910 |
| Spondyloperipheral Dysplasia |
|
Broad thumb, Absent styloid process of ulna, Flat acetabular roof, Short distal phalanx of the 5t... |
OMIM:271700 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Impulsivity |
ORPHA:101039 |
| Hsd10 Disease |
|
Optic atrophy, Tremor, Gait disturbance, Ataxia, Abnormal social behavior, Choreoathetosis |
ORPHA:391417 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Self-injurious behavior, Inappropriate behavior, Aggressive behavior, Attention deficit hyperacti... |
OMIM:619827 |
| Dysspondyloenchondromatosis |
|
Genu valgum, Abnormal ulnar metaphysis morphology, Abnormal fibula morphology, Metaphyseal enchon... |
ORPHA:85198 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Facial diplegia, ... |
OMIM:218000 |
| Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Short distal phalanx of finger, Finger syndactyly, Camptodactyly of finger, Arachnodactyly, Micro... |
ORPHA:2994 |
| Charcot-Marie-Tooth Disease Type 4A |
|
Decreased nerve conduction velocity, Decreased number of large peripheral myelinated nerve fibers... |
ORPHA:99948 |
| Neuralgic Amyotrophy |
|
Upper limb amyotrophy, Scapular winging, Syndactyly |
ORPHA:2901 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Clinodactyly, Carpal synostosis, Radioulnar synostosis, Brachydactyly, Short metatarsal, Hitchhik... |
OMIM:605282 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Aplasia/Hypoplasia of the radius, Oligodactyly, Abnormality of the wrist, Abnormal morphology of ... |
ORPHA:1307 |
| Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:617182 |
| Pfeiffer Syndrome Type 1 |
|
Broad thumb, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the thumb, Hallux varus, Sh... |
ORPHA:93258 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Polymicrogyria, Polydactyly, Progressive macrocephaly, Cavum septum pellucidum, Megalencephaly, S... |
OMIM:602501 |
| Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Micromelia, Abnormality of the wrist, Short humerus, Aplasia/Hypoplasia of the ulna, Split hand, ... |
ORPHA:2491 |
| Curry-Jones Syndrome |
|
Broad thumb, Toe syndactyly, Finger syndactyly, Preaxial hand polydactyly, Agenesis of corpus cal... |
ORPHA:1553 |
| Hypotrichosis-Intellectual Disability, Lopes Type |
|
1-5 finger complete cutaneous syndactyly |
ORPHA:2266 |
| Craniofrontonasal Dysplasia |
|
Finger syndactyly, Sandal gap, Camptodactyly of finger, Hypoplasia of the corpus callosum, Down-s... |
ORPHA:1520 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Broad long bones, Broad phalanx, Flat acetabular roof, Short foot, Cone-shaped epiphyses of the p... |
OMIM:300106 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Peripheral axonal neuropathy, Axonal degeneration, Decreased number of peripheral myelinated nerv... |
OMIM:615490 |
| Molybdenum Cofactor Deficiency, Type A |
|
Axonal loss, Peripheral demyelination, Growth delay, Gliosis |
OMIM:252150 |
| Grange Syndrome |
|
Short palm, Syndactyly |
ORPHA:79094 |
| Rubinstein-Taybi Syndrome 2 |
|
Broad thumb, Prominent fingertip pads, Short 5th toe, Broad hallux, Short first metatarsal, Micro... |
OMIM:613684 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Clinodactyly, Brachydactyly, Osteolysis involving bones of the upper limbs, Camptodactyly, Osteol... |
ORPHA:88630 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Hip dislocation, Shallow acetabular fossae, Radial bowing, Ulnar bowing, Limited pronation/supina... |
OMIM:605432 |
| Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Aggressive behavior, Motor stereotypy, Hyperactivity |
OMIM:615541 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Arachnodactyly, Microcephaly, Clinodactyly, Syndactyly |
OMIM:619092 |
| Weaver Syndrome |
|
Broad thumb, Finger syndactyly, Sandal gap, Camptodactyly of finger, Talipes equinovarus, Large h... |
ORPHA:3447 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Peripheral axonal degeneration, Onion bulb formation, Axonal degeneration, Decreased number of pe... |
OMIM:302800 |
| Moebius Syndrome |
|
Hand clenching, Abnormal pelvic girdle bone morphology, Clinodactyly, Radial deviation of finger,... |
OMIM:157900 |
| Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
|
Abnormality of the wrist, Abnormal thumb morphology, Finger syndactyly, Proximal placement of thumb |
ORPHA:1825 |
| Multiple Sulfatase Deficiency |
|
Broad thumb, Broad hallux, Peripheral demyelination, CNS demyelination, Short stature |
OMIM:272200 |
| Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... |
ORPHA:93322 |
| Adult Krabbe Disease |
|
Peripheral demyelination, CNS demyelination |
ORPHA:206448 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Self-injurious behavior, Bruxism, Motor stereotypy, Hyperactivity, Paroxysmal bursts of laughter |
OMIM:618718 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Sandal gap, Widely spaced toes, Mitten deformity, Clinodactyly of the 5th finger, Tapered distal ... |
OMIM:609638 |
| Ulnar Hypoplasia |
|
Radial bowing, Radial dysplasia, Hypoplasia of the ulna, Hypoplasia of the radius, Ulnar deviatio... |
OMIM:191440 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Optic atrophy, Optic disc pallor, Peripheral axonal neuropathy, Decreased number of peripheral my... |
ORPHA:320406 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Aggressive behavior, Recurrent hand flapping, Hyperactivity, Self-mutilation |
OMIM:615516 |
| Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Axonal loss, Gliosis |
OMIM:300857 |
| Bardet-Biedl Syndrome 9 |
|
Postaxial foot polydactyly, Polydactyly, Postaxial polydactyly, Brachydactyly, Postaxial hand pol... |
OMIM:615986 |
| Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Finger aplasia, Absent thumb, Proximal radial head dislocation, Hypoplasia of the radius, Aplasia... |
OMIM:602418 |
| Ring Chromosome 21 Syndrome |
|
Small hand, Clinodactyly, Narrow palm, Microcephaly, Syndactyly |
ORPHA:1445 |
| Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Abnormal myelination |
ORPHA:85179 |
| Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Postaxial polydactyly type A, Broad hallux, 2-3 toe syndactyly, 2-3 finger syndactyly, Postaxial ... |
OMIM:217085 |
| Filippi Syndrome |
|
2-4 toe syndactyly, Finger clinodactyly, Single transverse palmar crease, Microcephaly, Cutaneous... |
OMIM:272440 |
| Acrocapitofemoral Dysplasia |
|
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... |
OMIM:607778 |
| 2Q31.1 Microdeletion Syndrome |
|
Toe syndactyly, Finger syndactyly, Sandal gap, Camptodactyly of finger, Abnormal tibia morphology... |
ORPHA:251014 |
| Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Ectrodactyly, Radial club hand, Abnormality of the wrist, Asymmetric radial dysplasia, Ulnar bowi... |
ORPHA:2878 |
| Multiple Osteochondromas |
|
Abnormal tibia morphology, Abnormal hand morphology, Genu valgum, Bowing of the long bones, Abnor... |
ORPHA:321 |
| Poland Syndrome |
|
Unilateral oligodactyly, Unilateral brachydactyly, Hypoplasia of deltoid muscle, Syndactyly |
OMIM:173800 |
| Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly |
OMIM:300484 |
| Acromesomelic Dysplasia 4 |
|
Rhizomelia, Radial bowing, Short toe, Short finger, Sandal gap, Broad finger, Prominent deltoid t... |
OMIM:619636 |
| Multiple Synostoses Syndrome 1 |
|
Carpal synostosis, Cutaneous finger syndactyly, Proximal/middle symphalangism of 5th toe, Lower l... |
OMIM:186500 |
| Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Congenital bilateral hip dislocation, Cerebral cortical atrophy, Syndactyly |
ORPHA:404451 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperact... |
OMIM:620141 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Ivory epiphyses, Short distal phalanx of finger, Hypoplastic scapulae, Cone-shaped epiphysis, Sho... |
OMIM:210720 |
| Metachromatic Leukodystrophy |
|
Optic atrophy, Peripheral demyelination |
OMIM:250100 |
| Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Hand clenching, Clubbing of toes, Elbow dislocation, Inability to walk, Arachnodactyly, Optic dis... |
OMIM:620083 |
| Camurati-Engelmann Disease |
|
Ataxia, Optic atrophy, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, ... |
ORPHA:1328 |
| Leukodystrophy, Hypomyelinating, 5 |
|
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... |
OMIM:610532 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Clinodactyly of the 5th finger, Toe syndactyly, Syndactyly |
OMIM:601163 |
| Holt-Oram Syndrome |
|
Broad thumb, Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent thumb, Down-sloping shou... |
ORPHA:392 |
| Sporadic Infantile Bilateral Striatal Necrosis |
|
Resting tremor, Abnormal posturing, Chorea, Gait ataxia, Gait disturbance, Dystonia, Titubation |
ORPHA:225147 |
| Leigh Syndrome, Nuclear |
|
Optic atrophy, CNS demyelination, Failure to thrive, Gliosis |
OMIM:256000 |
