| 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 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Attention Deficit-Hyperactivity Disorder 8 |
|
Attention deficit hyperactivity disorder |
OMIM:619957 |
| Basal Ganglia Calcification, Idiopathic, 4 |
|
Bipolar affective disorder, Attention deficit hyperactivity disorder, Depression |
OMIM:615007 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Autism, Susceptibility To, X-Linked 4 |
|
Attention deficit hyperactivity disorder, Aggressive behavior, Impulsivity |
OMIM:300830 |
| Intellectual Developmental Disorder, Autosomal Recessive 25 |
|
Anxiety |
OMIM:614346 |
| Panic Disorder 1 |
|
Anxiety |
OMIM:167870 |
| Severe Primary Trimethylaminuria |
|
Emotional lability, Anxiety, Low self esteem, Aggressive behavior, Negative affectivity, Depression |
ORPHA:468726 |
| Amyotrophic Lateral Sclerosis 20 |
|
Muscular dystrophy, Rimmed vacuoles, Amyotrophic lateral sclerosis, Muscle fiber inclusion bodies |
OMIM:615426 |
| Intellectual Developmental Disorder, Autosomal Recessive 2 |
|
Self-injurious behavior, Attention deficit hyperactivity disorder |
OMIM:607417 |
| Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Hepatic Venoocclusive Disease With Immunodeficiency |
|
Decreased circulating IgG level, Absence of lymph node germinal center |
OMIM:235550 |
| Familial Alzheimer-Like Prion Disease |
|
Emotional lability, Anxiety, Attention deficit hyperactivity disorder, Depression |
ORPHA:280397 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Distal lower limb amyotrophy, Proximal muscle weakness in lower limbs, Distal lower limb muscle w... |
OMIM:601954 |
| Facioscapulohumeral Muscular Dystrophy 2, Digenic |
|
Scapular winging, Facial palsy, Pelvic girdle muscle weakness, Foot dorsiflexor weakness, Scapulo... |
OMIM:158901 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
|
Proximal amyotrophy, Shoulder girdle muscle atrophy, Muscular dystrophy, Pelvic girdle muscle atr... |
OMIM:604286 |
| Miyoshi Myopathy |
|
Distal lower limb amyotrophy, Proximal muscle weakness in lower limbs, Proximal amyotrophy, Shoul... |
ORPHA:45448 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Ventriculomegaly, Muscular dystrophy, Type II lissencephaly, Hydrocephalus |
OMIM:614830 |
| Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
| Miyoshi Muscular Dystrophy 3 |
|
Quadriceps muscle atrophy, Distal lower limb muscle weakness, Muscular dystrophy, Quadriceps musc... |
OMIM:613319 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 |
|
Quadriceps muscle atrophy, Shoulder girdle muscle weakness, Muscular dystrophy, EMG: myopathic ab... |
OMIM:611307 |
| Craniofacial Conodysplasia |
|
Spinal cord compression, Hydrocephalus |
ORPHA:85168 |
| Tibial Muscular Dystrophy, Tardive |
|
Muscular dystrophy, Rimmed vacuoles, EMG: myopathic abnormalities |
OMIM:600334 |
| Neuronopathy, Distal Hereditary Motor, Type Viib |
|
Distal amyotrophy, Hand muscle weakness, Lower limb muscle weakness, Weakness of facial musculatu... |
OMIM:607641 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Proximal amyotrophy, Lower limb muscle weakness, Muscular dystrophy, Muscle eosinophilia, Scapula... |
OMIM:253600 |
| Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus, Trapezius muscle aplasia |
OMIM:600257 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Death in childhood, Type II lissencephaly, Hydrocephalus, Left ventricular hypertrophy, Muscular ... |
OMIM:613153 |
| Muscular Dystrophy, Progressive Pectorodorsal |
|
Muscular dystrophy, Shoulder girdle muscle weakness, Scapular winging |
OMIM:310095 |
| Congenital Muscular Dystrophy Without Intellectual Disability |
|
Reduced muscle fiber alpha dystroglycan, Proximal amyotrophy, Facial diplegia, EMG: myopathic abn... |
ORPHA:370980 |
| Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Muscular dystrophy, Central core regions in muscle fibers |
OMIM:159050 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Anxiety, Aggressive behavior, Hyperactivity |
OMIM:619031 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Proximal amyotrophy, Shoulder girdle muscle weakness, Shoulder girdle muscle atrophy, Muscular dy... |
OMIM:254110 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Shoulder girdle muscle weakness, Autophagic vacuoles, Muscular dystrophy, EMG: myopathic abnormal... |
OMIM:608423 |
| Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 |
|
Lower limb muscle weakness, Pelvic girdle amyotrophy, Hamstring contractures, Muscular dystrophy,... |
ORPHA:267 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Muscular dystrophy, Skeletal muscle atrophy, EMG: myopathic abnormalities, Fatty replacement of s... |
OMIM:608807 |
| Myopathy With Storage Of Glycoproteins And Glycosaminoglycans |
|
Scapulohumeral muscular dystrophy, Myopathy |
OMIM:160570 |
| Spinal Muscular Atrophy, Type Iii |
|
Spinal muscular atrophy, Shoulder girdle muscle weakness, Hand tremor, Lower limb muscle weakness... |
OMIM:253400 |
| Miyoshi Muscular Dystrophy 1 |
|
Distal amyotrophy, Muscular dystrophy, Lower limb muscle weakness, Deposits immunoreactive to bet... |
OMIM:254130 |
| Adenylosuccinate Synthetase-Like 1-Related Distal Myopathy |
|
Distal lower limb amyotrophy, Quadriceps muscle atrophy, Lower limb amyotrophy, Proximal muscle w... |
ORPHA:482601 |
| Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Aggressive behavior, Hyperactivity |
OMIM:615493 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Aggressive behavior, Hyperactivity |
ORPHA:356996 |
| Chudley-Mccullough Syndrome |
|
Polymicrogyria, Partial agenesis of the corpus callosum, Hydrocephalus, Ventriculomegaly, Dysplas... |
OMIM:604213 |
| Vacuolar Neuromyopathy |
|
Shoulder girdle muscle weakness, Muscle fiber splitting, Muscular dystrophy, Scapular winging, Ce... |
OMIM:601846 |
| Muscular Dystrophy, Mabry Type |
|
Late-onset muscular dystrophy |
OMIM:310000 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Decreased circulating IgA level, Decreased circulating Ig... |
OMIM:606843 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 12 |
|
Muscular dystrophy, Limb-girdle muscle weakness |
OMIM:616094 |
| Spinal Muscular Atrophy, Segmental |
|
Abnormal anterior horn cell morphology, Hand muscle atrophy, Segmental spinal muscular atrophy |
OMIM:183020 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Proximal muscle weakness in lower limbs, Distal lower limb muscle weakness, Weakness of facial mu... |
OMIM:619566 |
| Neuronopathy, Distal Hereditary Motor, Type Va |
|
Thenar muscle weakness, Distal amyotrophy, First dorsal interossei muscle atrophy, Upper limb mus... |
OMIM:600794 |
| Muscular Dystrophy, Congenital, With Rapid Progression |
|
Congenital muscular dystrophy |
OMIM:254100 |
| Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Reduced muscle fiber alpha dystroglycan, Shoulder girdle muscle weakness, Muscular dystrophy, Abn... |
ORPHA:34515 |
| Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Distal lower limb amyotrophy, Peroneal muscle atrophy, Neck joint contracture, Distal lower limb ... |
OMIM:181350 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Muscle fiber splitting, Muscular dystrophy, Skeletal muscle atrophy, EMG: myopathic abnormalities... |
OMIM:253601 |
| Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Torticollis, Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Congenital muscular d... |
OMIM:613204 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Macroglossia, Muscular dystrophy, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Achi... |
OMIM:608840 |
| Obsessive-Compulsive Disorder |
|
Anxiety, Depression, Skin-picking |
OMIM:164230 |
| Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Ventriculomegaly, Polymicrogyria, Hydrocephalus |
OMIM:615938 |
| Muscular Dystrophy, Congenital, 1B |
|
Shoulder girdle muscle weakness, Sternocleidomastoid amyotrophy, Pectoralis amyotrophy, Achilles ... |
OMIM:604801 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
|
Muscular dystrophy, Limb-girdle muscle weakness, Hypoglycosylation of alpha-dystroglycan, Ankle f... |
OMIM:613818 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 |
|
Calf muscle hypertrophy, Muscular dystrophy, Proximal amyotrophy, Scapular winging |
OMIM:601287 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Macroglossia, Hydrocephalus, Muscular dystrophy, Facial palsy, Congenital muscular dystrophy, Cal... |
OMIM:613155 |
| Smith-Magenis syndrome |
|
Self-mutilation, Hyperactivity |
DECIPHER:8 |
| Spinal Muscular Atrophy, Type Ii |
|
Spinal muscular atrophy, Degeneration of anterior horn cells, Hand tremor, Skeletal muscle atrophy |
OMIM:253550 |
| Lethal Congenital Contracture Syndrome 3 |
|
Arthrogryposis multiplex congenita, Multiple joint contractures, Skeletal muscle atrophy, Neonata... |
OMIM:611369 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Type II lissencephaly, Hydrocephalus, Occipital encephalocele, Ventriculomegaly, Congenital muscu... |
ORPHA:324416 |
| Myopathy, Myofibrillar, 2 |
|
Leg muscle stiffness, Shoulder girdle muscle weakness, Muscle fiber splitting, Lower limb muscle ... |
OMIM:608810 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Decreased circulating IgA level, Increased circulating Ig... |
OMIM:608106 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Shoulder girdle muscle weakness, Muscle fiber splitting, Muscular dystrophy, Facial palsy, Rimmed... |
OMIM:603511 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Type II lissencephaly, Camptodactyly of finger, Myopathy, Hydrocephalus, Muscular dystrophy, Hypo... |
ORPHA:272 |
| Lissencephaly 1 |
|
Gray matter heterotopia, Ventriculomegaly, Pachygyria, Agyria, Lissencephaly, Subcortical band he... |
OMIM:607432 |
| Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Shoulder girdle muscle atrophy, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, C... |
OMIM:613530 |
| Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Proximal amyotrophy, Myopathy, Muscular dystrophy, Scapular winging, Centrally nucleated skeletal... |
OMIM:612999 |
| Myopathy, Distal, 3 |
|
Distal amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Joint contr... |
OMIM:610099 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Emotional lability, Attention deficit hyperactivity disorder |
OMIM:617028 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Calf muscle hypertrophy, Flexion con... |
OMIM:609308 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Ventriculomegaly, Polymicrogyria, Hydrocephalus |
OMIM:615937 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Impaired Ig class switch recombination, Decreased circulating IgA level, Increased circulating Ig... |
OMIM:605258 |
| Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant |
|
Muscular dystrophy, Proximal amyotrophy |
OMIM:612998 |
| Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Congenital muscular dystrophy |
OMIM:254000 |
| Muscular Dystrophy, Adult-Onset, With Leukoencephalopathy |
|
Muscular dystrophy |
OMIM:253590 |
| Kimura Disease |
|
Increased circulating IgE level, Follicular hyperplasia, Lymphadenopathy |
ORPHA:482 |
| Spinal Muscular Atrophy, Type Iv |
|
Quadriceps muscle atrophy, Proximal amyotrophy, Spinal muscular atrophy, Hand tremor, Type 1 musc... |
OMIM:271150 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 |
|
Flexion contracture, Muscular dystrophy, Skeletal muscle atrophy |
OMIM:613723 |
| Hydrocephalus, Congenital, 1 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:236600 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2 |
|
Muscular dystrophy, Skeletal muscle hypertrophy |
OMIM:613158 |
| Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:312500 |
| Hereditary Progressive Mucinous Histiocytosis |
|
Lymphadenopathy |
ORPHA:158025 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital Without Impaired Intellectual Development), Type B, 4 |
|
Muscular dystrophy |
OMIM:613152 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Ventriculomegaly, Kinetic tremor, Normal pressure hydrocephalus |
OMIM:611808 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Ventriculomegaly, Abnormality of neuronal migration, Hydrocephalus |
OMIM:618709 |
| Isolated Lissencephaly Type 1 Without Known Genetic Defects |
|
Enlarged sylvian cistern, Gray matter heterotopia, Ventriculomegaly, Pachygyria, Agyria |
ORPHA:1084 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Macroglossia, Proximal amyotrophy, Shoulder girdle muscle weakness, Shoulder girdle muscle atroph... |
OMIM:606612 |
| Dpm3-Cdg |
|
Calf muscle hypertrophy, Muscular dystrophy, Rimmed vacuoles, Pelvic girdle muscle weakness |
ORPHA:263494 |
| Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
| Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3 |
|
Achilles tendon contracture, Muscular dystrophy, Calf muscle pseudohypertrophy, Scapular winging |
ORPHA:62 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Muscular dystrophy, Polymicrogyria, Type II lissencephaly, Hydrocephalus |
OMIM:615181 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 3 |
|
Gray matter heterotopia, Pachygyria, Agyria, Lissencephaly, Subcortical band heterotopia |
OMIM:615411 |
| Lissencephaly 3 |
|
Polymicrogyria, Ventriculomegaly, Gray matter heterotopia, Pachygyria, Agyria, Lissencephaly, Per... |
OMIM:611603 |
| Congenital Disorder Of Glycosylation, Type Iid |
|
Decreased muscle mass, Dandy-Walker malformation, Hydrocephalus, Myopathy |
OMIM:607091 |
| Muscular Dystrophy, Becker Type |
|
Muscular dystrophy, Calf muscle pseudohypertrophy |
OMIM:300376 |
| Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
|
Macroglossia, Muscular dystrophy, Skeletal muscle atrophy, Triangular tongue, Calf muscle hypertr... |
OMIM:616827 |
| Hartnup Disorder |
|
Emotional lability, Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:234500 |
| Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99977 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Death in childhood, Type II lissencephaly, Polymicrogyria, Partial agenesis of the... |
OMIM:614643 |
| Muscular Dystrophy, Barnes Type |
|
Muscular dystrophy, Myopathy |
OMIM:158800 |
| Microlissencephaly |
|
Polymicrogyria, Simplified gyral pattern, Ventriculomegaly, Subcortical heterotopia, Pachygyria, ... |
ORPHA:1083 |
| Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
| Lissencephaly, X-Linked, 1 |
|
Death in infancy, Gray matter heterotopia, Pachygyria, Agyria, Lissencephaly, Agenesis of corpus ... |
OMIM:300067 |
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Muscular dystrophy, Skeletal muscle atrophy, Proximal amyotrophy, Increased variability in muscle... |
OMIM:614302 |
| Muscular Dystrophy, Congenital, Lmna-Related |
|
Hamstring contractures, Elbow contracture, Achilles tendon contracture, Upper limb muscle weaknes... |
OMIM:613205 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3 |
|
Muscular dystrophy, Congenital muscular dystrophy |
OMIM:613151 |
| Multiminicore Myopathy |
|
Proximal muscle weakness in lower limbs, Minicore myopathy, Myopathy, Abnormal muscle fiber morph... |
ORPHA:598 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Myopathy, Left ventricular hypertrophy, Type 1 muscle fiber predominance, Triceps weakness, Muscu... |
ORPHA:86812 |
| Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Muscular dystrophy, Generalized amyotrophy, Elbow flexion contracture, Joint contracture |
OMIM:616516 |
| Lethal Congenital Contracture Syndrome 4 |
|
Flexion contracture, Multiple joint contractures, Skeletal muscle atrophy, Distal arthrogryposis |
OMIM:614915 |
| Gne Myopathy |
|
Lower limb amyotrophy, Shoulder girdle muscle weakness, Hip flexor weakness, Lower limb muscle we... |
ORPHA:602 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Muscle fiber splitting, Type 1 muscle fiber predominance, Muscular dystrophy, Skeletal muscle atr... |
OMIM:253700 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Partial agenesis of the corpus callosum, Hydrocephalus, Simplified gyral pattern, Death in infanc... |
OMIM:619302 |
| Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Hyperactivity, Agitation |
OMIM:619970 |
| Band Heterotopia |
|
Polymicrogyria, Hydrocephalus, Lateral ventricle dilatation, Ventriculomegaly, Gray matter hetero... |
OMIM:600348 |
| Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Muscular dystrophy |
OMIM:204730 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 |
|
Spinal muscular atrophy, Distal amyotrophy, Abnormal lower motor neuron morphology, Scapuloperone... |
OMIM:611067 |
| Muscular Dystrophy, Cardiac Type |
|
Muscular dystrophy |
OMIM:309930 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14 |
|
Muscular dystrophy, Limb-girdle muscle weakness, Hypoglycosylation of alpha-dystroglycan |
OMIM:615352 |
| Dystonia 31 |
|
Leg dystonia, Generalized dystonia, Writer's cramp, Abnormal posturing, Arm dystonia, Craniofacia... |
OMIM:619565 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Muscular dystrophy, Skeletal muscle hypertrophy, Increased endomysial connective tissue, Increase... |
OMIM:613157 |
| Walker-Warburg Syndrome |
|
Abnormal cortical gyration, Polymicrogyria, Macrogyria, Hydrocephalus, Agenesis of corpus callosu... |
ORPHA:899 |
| Spinal Muscular Atrophy, Facioscapulohumeral Type |
|
Skeletal muscle atrophy, Spinal muscular atrophy |
OMIM:182970 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Type II lissencephaly, Hydrocephalus, Muscular dystrophy, Lissencephaly, Agyria, Flexion contract... |
OMIM:615249 |
| Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
ORPHA:2807 |
| Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Skeletal muscle atrophy, Spinal muscular atrophy, Calf muscle hypertrophy |
OMIM:615048 |
| Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Tremor, Proximal amyotrophy, Spinal muscular atrophy, Distal amyotrophy |
OMIM:182980 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Distal lower limb amyotrophy, Hand tremor, Distal lower limb muscle weakness, Hand muscle weaknes... |
ORPHA:99947 |
| Facioscapulohumeral Muscular Dystrophy 1 |
|
Shoulder girdle muscle weakness, Shoulder girdle muscle atrophy, Skeletal muscle atrophy, Scapula... |
OMIM:158900 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
|
Muscular dystrophy, Peroneal muscle weakness, Skeletal muscle hypertrophy, Hypoglycosylation of a... |
OMIM:611588 |
| Digital Extensor Muscle Aplasia-Polyneuropathy |
|
Muscular dystrophy, Camptodactyly of finger, Skeletal muscle atrophy, Aplasia/Hypoplasia involvin... |
ORPHA:2926 |
| Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Camptodactyly of finger, Contracture of the distal interphalangeal joint of the fingers, Muscular... |
OMIM:617072 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Q |
|
Skeletal muscle atrophy, Distal lower limb muscle weakness |
OMIM:615025 |
| Microcephaly, Seizures, And Developmental Delay |
|
Simplified gyral pattern, Skeletal muscle atrophy, Ventriculomegaly |
OMIM:613402 |
| Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Flexion contracture, Congenital muscular dystrophy, Increased endomysial connective tissue, Abnor... |
OMIM:607855 |
| Myopathy, Distal, With Rimmed Vacuoles |
|
Skeletal muscle atrophy, EMG: myopathic abnormalities, Scapular winging, Facial palsy, Z-band str... |
OMIM:617158 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Flexion contracture, Skeletal muscle atrophy |
OMIM:611105 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Macroglossia, Type II lissencephaly, Reduced muscle fiber alpha dystroglycan, Polymicrogyria, Hyd... |
ORPHA:370959 |
| Creatine Phosphokinase, Elevated Serum |
|
Myopathy, Muscular dystrophy, EMG: myopathic abnormalities, Abnormal muscle fiber morphology, Inf... |
OMIM:123320 |
| Pineocytoma |
|
Increased CSF protein concentration, Hydrocephalus |
ORPHA:251912 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Macroglossia, Left ventricular hypertrophy, Muscular dystrophy, Skeletal muscle hypertrophy, Vent... |
OMIM:613156 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity |
OMIM:301008 |
| Juvenile Primary Lateral Sclerosis |
|
Skeletal muscle atrophy, Abnormal upper motor neuron morphology |
ORPHA:247604 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Hypoplasia of the pyramidal tract, Type II lissencephaly, Polymicrogyria, Hydrocep... |
OMIM:253800 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Tremor, Elbow flexion contracture, Simplified gyral pattern, Hydrocephalus |
OMIM:619470 |
| Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Muscular dystrophy, Increased endomysial connective tissue, Centrally nucleated skeletal muscle f... |
OMIM:617066 |
| Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Muscular dystrophy, Death in infancy |
OMIM:613869 |
| Sub-Cortical Nodular Heterotopia |
|
Polymicrogyria, Agenesis of corpus callosum, Abnormality of neuronal migration, Subcortical heter... |
ORPHA:101029 |
| Glycine Encephalopathy 1 |
|
Hyperactivity, Restlessness, Irritability, Aggressive behavior, Impulsivity |
OMIM:605899 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Agenesis of corpus callosum, Hydrocephalus |
OMIM:166990 |
| Inclusion Body Myositis |
|
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vac... |
ORPHA:611 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Macroglossia, Encephalocele, Type II lissencephaly, Hydrocephalus, Muscular dystrophy, Skeletal m... |
OMIM:613150 |
| Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
| Ataxia-Oculomotor Apraxia Type 4 |
|
Muscular dystrophy, Progressive distal muscular atrophy, Dystonia, Distal lower limb muscle weakness |
ORPHA:459033 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Tibialis anterior muscle atrophy, Shoulder girdle muscle weakness, Facial diplegia, Sternocleidom... |
ORPHA:98905 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity |
OMIM:300271 |
| Myopathy, Myofibrillar, 6 |
|
Lower limb muscle weakness, Muscular dystrophy, Knee flexion contracture, Myofibrillar myopathy, ... |
OMIM:612954 |
| Pandas |
|
Emotional lability, Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Attentio... |
ORPHA:66624 |
| Acalvaria |
|
Spina bifida, Holoprosencephaly, Abnormality of neuronal migration, Hydrocephalus |
ORPHA:945 |
| Congenital Myopathy 1B, Autosomal Recessive |
|
Minicore myopathy, Muscular dystrophy, Skeletal muscle atrophy, Nemaline bodies, Facial palsy, Ce... |
OMIM:255320 |
| Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Type II lissencephaly, Hydrocephalus, Occipital encephalocele, Gray matter heterotopia, Dysgyria |
ORPHA:352682 |
| Immunodeficiency 75 With Lymphoproliferation |
|
Hepatosplenomegaly, Follicular hyperplasia, Lymphadenopathy |
OMIM:619126 |
| Myopathy, Distal, 4 |
|
Abnormality of the calf musculature, Distal lower limb amyotrophy, Thenar muscle weakness, Myopat... |
OMIM:614065 |
| Amyotrophic Lateral Sclerosis With Polyglucosan Bodies |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis |
OMIM:205250 |
| Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Partial absence of specific antibody response to tetanus vaccine, Decreased c... |
OMIM:618261 |
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Degeneration of anterior horn cells, Spinal muscular atrophy, Skeletal muscle atrophy, Tremor, Fa... |
OMIM:159950 |
| Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
| Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Dandy-Walker malformation, Hydrocephalus |
ORPHA:1538 |
| Bethlem Myopathy 1 |
|
Camptodactyly of finger, Torticollis, Myopathy, Skeletal muscle atrophy, Congenital muscular tort... |
OMIM:158810 |
| Amyotrophic Lateral Sclerosis 11 |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis |
OMIM:612577 |
| Chiari Malformation Type Ii |
|
Syringomyelia, Cervical myelopathy, Spina bifida, Hydrocephalus, Myelomeningocele, Gray matter he... |
OMIM:207950 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Impulsivity, Aggressive behavior, Hyperactivity, Agitation |
OMIM:309548 |
| Muscular Atrophy, Malignant Neurogenic |
|
Skeletal muscle atrophy |
OMIM:158650 |
| Amyotonia Congenita |
|
Skeletal muscle atrophy |
OMIM:205000 |
| Fraxe Intellectual Disability |
|
Aggressive behavior, Hyperactivity, Impulsivity, Agitation |
ORPHA:100973 |
| Bethlem Myopathy |
|
Limb-girdle muscle weakness, Camptodactyly of finger, Reduced muscle collagen VI, Muscular dystro... |
ORPHA:610 |
| Congenital Myopathy 3 With Rigid Spine |
|
Minicore myopathy, Type 1 muscle fiber predominance, Muscular dystrophy, Facial palsy, Increased ... |
OMIM:602771 |
| Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Muscular dystrophy, Muscle fiber splitting, Increased variability in muscle fiber diameter, Mothe... |
OMIM:226670 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Type II lissencephaly, Hydrocephalus, Muscular dystrophy, Lateral ventricle dilatation, Ventricul... |
OMIM:613154 |
| Hereditary Myopathy With Early Respiratory Failure |
|
Muscle fiber splitting, Type 1 muscle fiber predominance, Necrotizing myopathy, Skeletal muscle a... |
ORPHA:178464 |
| Edinburgh Malformation Syndrome |
|
Death in infancy, Hydrocephalus |
OMIM:129850 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Polymicrogyria, Hydrocephalus, Muscular dystrophy, Ventriculomegaly, Increased variability in mus... |
OMIM:616538 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity |
ORPHA:436151 |
| Myopathy, Distal, 5 |
|
Muscle fiber splitting, Distal lower limb muscle weakness, Distal amyotrophy, Weakness of facial ... |
OMIM:617030 |
| Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus |
|
Skeletal muscle atrophy |
OMIM:158500 |
| Melanosis, Neurocutaneous |
|
Syringomyelia, Hydrocephalus, Death in infancy, Dandy-Walker malformation, Choroid plexus papilloma |
OMIM:249400 |
| Spastic Paraplegia 42, Autosomal Dominant |
|
Skeletal muscle atrophy |
OMIM:612539 |
| Hydrocephalus, Autosomal Dominant |
|
Dandy-Walker malformation, Hydrocephalus |
OMIM:123155 |
| Neu-Laxova Syndrome |
|
Abnormal cortical gyration, Polymicrogyria, Arthrogryposis multiplex congenita, Macrogyria, Spina... |
ORPHA:2671 |
| Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus |
ORPHA:99966 |
| Amyotrophic Lateral Sclerosis, Juvenile, With Dementia |
|
Distal amyotrophy, Amyotrophic lateral sclerosis |
OMIM:205200 |
| Spastic Paraplegia 31, Autosomal Dominant |
|
Distal amyotrophy, Lower limb muscle weakness, Skeletal muscle atrophy |
OMIM:610250 |
| Autosomal Recessive Spastic Paraplegia Type 62 |
|
Skeletal muscle atrophy, Knee flexion contracture |
ORPHA:401785 |
| Hemimegalencephaly |
|
Polymicrogyria, Abnormal neuron morphology, Gray matter heterotopia, Ventriculomegaly, Gliosis, P... |
ORPHA:99802 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Abnormal anterior horn cell morphology, Facial diplegia, Paucity of anterior horn motor neurons, ... |
OMIM:611890 |
| Kerion Celsi |
|
Lymphadenopathy |
ORPHA:499 |
| Caspase 8 Deficiency |
|
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... |
OMIM:607271 |
| Amyotrophic Lateral Sclerosis Type 4 |
|
Skeletal muscle atrophy |
ORPHA:357043 |
| Mast Cell Sarcoma |
|
Mastocytosis, Lymphadenopathy, Splenomegaly, Mediastinal lymphadenopathy |
ORPHA:66661 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
|
Distal lower limb amyotrophy, Proximal amyotrophy, Intrinsic hand muscle atrophy, Distal lower li... |
OMIM:620068 |
| Periventricular Heterotopia With Microcephaly, Autosomal Recessive |
|
Periventricular nodular heterotopia, Periventricular heterotopia |
OMIM:608097 |
| Spastic Paraplegia 73, Autosomal Dominant |
|
Skeletal muscle atrophy |
OMIM:616282 |
| Beemer Lethal Malformation Syndrome |
|
Hydrocephalus |
OMIM:209970 |
| Fried Syndrome |
|
Skeletal muscle atrophy, Hydrocephalus |
ORPHA:85335 |
| Neuronopathy, Distal Hereditary Motor, Type Viii |
|
Distal lower limb amyotrophy, Nonprogressive muscular atrophy, Spinal muscular atrophy, Distal lo... |
OMIM:600175 |
| Amyotrophic Lateral Sclerosis 9 |
|
Distal amyotrophy, Amyotrophic lateral sclerosis |
OMIM:611895 |
| Ullrich Congenital Muscular Dystrophy 2 |
|
Flexion contracture, Facial palsy, Congenital muscular dystrophy, Increased variability in muscle... |
OMIM:616470 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14 |
|
Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan |
OMIM:615350 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Muscular dystrophy, Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Muscle f... |
OMIM:616812 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Decreased circulating IgG2 level, Increased circulating IgM level, Lymphadenopathy, Splenomegaly,... |
OMIM:615513 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Proximal muscle weakness in lower limbs, Lower limb muscle weakness, Type 1 muscle fiber predomin... |
OMIM:613954 |
| Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Autophagic vacuoles, Distal amyotrophy, Type 1 muscle fiber predominance, Z-band streaming, Rimme... |
OMIM:618655 |
| Nodular Neuronal Heterotopia |
|
Abnormality of neuronal migration |
ORPHA:2149 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Congenital muscular dystrophy |
ORPHA:1875 |
| Autosomal Recessive Spastic Paraplegia Type 63 |
|
Skeletal muscle atrophy |
ORPHA:401805 |
| Mitochondrial Complex I Deficiency, Nuclear Type 23 |
|
Increased CSF lactate, Skeletal muscle atrophy, Dystonia |
OMIM:618244 |
| Spastic Paraplegia 18, Autosomal Recessive |
|
Lower limb muscle weakness, Skeletal muscle atrophy, Joint contracture |
OMIM:611225 |
| Epilepsy, Progressive Myoclonic, 9 |
|
Generalized amyotrophy, Agenesis of corpus callosum, Simplified gyral pattern, Ventriculomegaly |
OMIM:616540 |
| Lethal Congenital Contracture Syndrome 1 |
|
Paucity of anterior horn motor neurons, Skeletal muscle atrophy, Neonatal death, Hypoplasia of th... |
OMIM:253310 |
| Amyotrophic Lateral Sclerosis 8 |
|
Proximal amyotrophy, Morphological abnormality of the pyramidal tract, Distal amyotrophy, Postura... |
OMIM:608627 |
| Amyotrophic Lateral Sclerosis 1 |
|
Degeneration of the lateral corticospinal tracts, Skeletal muscle atrophy, Degeneration of anteri... |
OMIM:105400 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating total IgM, Decreased circulating IgG level, Cervical lymphadenopathy |
OMIM:618987 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Lower limb muscle weakness, Muscular dystrophy, Skeletal muscle atrophy, Myopathy |
OMIM:615980 |
| Microhydranencephaly |
|
Hydranencephaly, Skeletal muscle atrophy, Athetosis, Ventriculomegaly, Generalized amyotrophy, Pa... |
OMIM:605013 |
| Spastic Paraplegia 62, Autosomal Recessive |
|
Skeletal muscle atrophy |
OMIM:615681 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14 |
|
Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Joint contracture, Generalized limb ... |
OMIM:615351 |
| Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Proximal amyotrophy, Amyotrophic lateral sclerosis |
OMIM:608030 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis |
OMIM:616439 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis |
OMIM:616437 |
| Nemaline Myopathy 6 |
|
Limb muscle weakness, Skeletal muscle atrophy, Nemaline bodies, Myopathy |
OMIM:609273 |
| Amyotrophic Lateral Sclerosis 18 |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis |
OMIM:614808 |
| Amyotrophic Lateral Sclerosis, Susceptibility To, 24 |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis |
OMIM:617892 |
| Congenital Hydrocephalus |
|
Colpocephaly, Abnormal cortical gyration, Hydrocephalus, Ventriculomegaly, Lissencephaly |
ORPHA:2185 |
| Phenylketonuria |
|
Self-mutilation, Hyperactivity, Anxiety, Attention deficit hyperactivity disorder, Irritability, ... |
OMIM:261600 |
| Epilepsy, Pyridoxine-Dependent |
|
Hydrocephalus |
OMIM:266100 |
| Arthrogryposis Multiplex Congenita 2, Neurogenic Type |
|
Arthrogryposis multiplex congenita, Congenital contracture, Skeletal muscle atrophy, Myopathy |
OMIM:208100 |
| Mannosidosis, Beta A, Lysosomal |
|
Aggressive behavior, Hyperactivity |
OMIM:248510 |
| Spastic Paraplegia 63, Autosomal Recessive |
|
Skeletal muscle atrophy |
OMIM:615686 |
| Lissencephaly 5 |
|
Type II lissencephaly, Hydrocephalus, Occipital encephalocele, Gray matter heterotopia, Subcortic... |
OMIM:615191 |
| Dysequilibrium Syndrome |
|
Skeletal muscle atrophy |
ORPHA:1766 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Follicular hyperplasia, Decreased circulating antibody level, Absent specific antibody response, ... |
OMIM:619846 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:1008 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Distal lower limb muscle weakness, Flexion contracture of finger, Increased endomysial connective... |
ORPHA:206549 |
| Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Polymicrogyria, Simplified gyral pattern, Gray matter heterotopia, Pachygyria, Lissencephaly, Abn... |
OMIM:604317 |
| Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Type 1 muscle fiber predominance, Skeletal muscle atrophy, Dystonia, Dysplastic corpus callosum |
OMIM:618276 |
| Muscular Dystrophy, Congenital, Megaconial Type |
|
Facial palsy, Increased endomysial connective tissue, Muscular dystrophy, Myopathy |
OMIM:602541 |
| Bilateral Striopallidodentate Calcinosis |
|
Abnormality of neuronal migration, Ventriculomegaly |
ORPHA:1980 |
| Spastic Paraplegia 2, X-Linked |
|
Lower limb muscle weakness, Skeletal muscle atrophy, Spinocerebellar tract degeneration, Degenera... |
OMIM:312920 |
| Masa Syndrome |
|
Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus |
OMIM:303350 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2N |
|
Distal lower limb amyotrophy, Lower limb muscle weakness, Foot dorsiflexor weakness, Skeletal mus... |
OMIM:613287 |
| Autosomal Dominant Spastic Paraplegia Type 41 |
|
Lower limb amyotrophy, Spinal cord lesion, Hand muscle weakness, Degeneration of the lateral cort... |
ORPHA:320355 |
| Obsolete: Early-Onset Schizophrenia |
|
Polyphagia, Emotional lability, Impairment in personality functioning, Suicidal ideation, Restles... |
ORPHA:96369 |
| Developmental And Epileptic Encephalopathy 43 |
|
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity |
OMIM:617113 |
| Alexander Disease |
|
Death in childhood, Death in adolescence, Increased CSF protein concentration, Hydrocephalus, Dea... |
OMIM:203450 |
| Mohr-Tranebjaerg Syndrome |
|
Tremor, Abnormal posturing, Dystonia, Intrinsic hand muscle atrophy |
OMIM:304700 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Abnormal anterior horn cell morphology, Spinal muscular atrophy, Weakness of facial musculature, ... |
ORPHA:1145 |
| Hyperprolinemia, Type I |
|
Aggressive behavior, Hyperactivity |
OMIM:239500 |
| Autosomal Dominant Spastic Paraplegia Type 42 |
|
Lower limb amyotrophy, Spinal cord lesion, Lower limb muscle weakness, Degeneration of the latera... |
ORPHA:171863 |
| Congenital Disorder Of Glycosylation, Type Ie |
|
Camptodactyly, Muscular dystrophy, Knee flexion contracture, Tremor, Ankle flexion contracture |
OMIM:608799 |
| Legg-Calvé-Perthes Disease |
|
Skeletal muscle atrophy |
ORPHA:2380 |
| Nemaline Myopathy 10 |
|
Skeletal muscle atrophy, Death in infancy, Nemaline bodies, Fatty replacement of skeletal muscle,... |
OMIM:616165 |
| 1Q21.1 Microduplication Syndrome |
|
Arthrogryposis multiplex congenita, Hydrocephalus |
ORPHA:250994 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Shoulder girdle muscle weakness, Myopathy, Distal amyotrophy, Pelvic girdle amyotrophy, Shoulder ... |
OMIM:167320 |
| Facial Onset Sensory And Motor Neuronopathy |
|
Skeletal muscle atrophy |
ORPHA:85162 |
| Spastic Paraplegia 45, Autosomal Recessive |
|
Flexion contracture, Skeletal muscle atrophy, Dysplastic corpus callosum |
OMIM:613162 |
| Developmental And Epileptic Encephalopathy 36 |
|
Flexion contracture, Hydrocephalus |
OMIM:300884 |
| Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgA level, Impaired T cell function, Follicular hyperplasia, Decreased circ... |
OMIM:240500 |
| Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus |
OMIM:220200 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Type II lissencephaly, Hydrocephalus, Communicating hydrocephalus, Muscular dystrophy, Hydromyeli... |
OMIM:615287 |
| Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Distal lower limb amyotrophy, Retrocollis, Distal amyotrophy, Skeletal muscle atrophy, Generalize... |
OMIM:205100 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Increased circulating IgA level, Hepatosplenomegaly, Cervical lymphadenopathy, Increased circulat... |
OMIM:618534 |
| Nemaline Myopathy 2 |
|
Arthrogryposis multiplex congenita, Sternocleidomastoid amyotrophy, Muscle fiber splitting, Type ... |
OMIM:256030 |
| Hyperlysinemia, Type I |
|
Hyperactivity |
OMIM:238700 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Bipolar affective disorder, Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:619927 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Death in infancy, Hydrocephalus |
OMIM:258320 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased circulating IgG level, Increased circulating IgE level, Hepatosplenomegaly, Lymphadenop... |
OMIM:618982 |
| Hemangioblastoma |
|
Lower limb muscle weakness, Upper limb muscle weakness, Spinal hemangioblastoma, Hydrocephalus |
ORPHA:252054 |
| Oculopharyngodistal Myopathy 3 |
|
Increased CSF protein concentration, Distal amyotrophy, Weakness of facial musculature, Tremor, I... |
OMIM:619473 |
| Lissencephaly 8 |
|
Type II lissencephaly, Polymicrogyria, Skeletal muscle atrophy, Occipital encephalocele, Ventricu... |
OMIM:617255 |
| Pontocerebellar Hypoplasia, Type 1A |
|
Spinal muscular atrophy, Hand tremor, Distal amyotrophy, Lateral ventricle dilatation, Congenital... |
OMIM:607596 |
| Xq25 Microduplication Syndrome |
|
Anxiety, Hyperactivity |
ORPHA:521258 |
| Frontal Encephalocele |
|
Encephalocele, Spina bifida, Hydrocephalus |
ORPHA:1931 |
| Subependymal Nodular Heterotopia |
|
Polymicrogyria, Partial agenesis of the corpus callosum, Myelomeningocele, Meningocele, Occipital... |
ORPHA:101030 |
| Pontocerebellar Hypoplasia, Type 1C |
|
Death in childhood, Skeletal muscle atrophy, Spinal muscular atrophy, Joint contracture |
OMIM:616081 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Increased circulating IgG level, Fluctuating splenomegaly, Lymphadenopathy, Increased circulating... |
OMIM:619220 |
| Combined Oxidative Phosphorylation Deficiency 6 |
|
Increased CSF lactate, Skeletal muscle atrophy, Ragged-red muscle fibers |
OMIM:300816 |
| Craniotelencephalic Dysplasia |
|
Frontal encephalocele, Hydrocephalus, Lissencephaly, Arrhinencephaly, Agenesis of corpus callosum |
ORPHA:1528 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Gliosis, Amyotrophic lateral scl... |
OMIM:105550 |
| Gemignani Syndrome |
|
Skeletal muscle atrophy |
ORPHA:2074 |
| Lennox-Gastaut Syndrome |
|
Aggressive behavior, Personality disorder, Hyperactivity |
ORPHA:2382 |
| Autosomal Recessive Spastic Paraplegia Type 76 |
|
Lower limb muscle weakness, Skeletal muscle atrophy |
ORPHA:488594 |
| Adenocarcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99976 |
| Spinal Muscular Atrophy, X-Linked 2 |
|
Spinal muscular atrophy, Myopathy, Facial palsy, Flexion contracture, Arthrogryposis multiplex co... |
OMIM:301830 |
| Lissencephaly 6 With Microcephaly |
|
Polymicrogyria, Partial agenesis of the corpus callosum, Limb hypertonia, Microlissencephaly, Sim... |
OMIM:616212 |
| Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Distal amyotrophy, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:602099 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Inappropriate behavior, Hyperactivity, Nail-biting, Attention deficit hyperactivity disorder, Sel... |
OMIM:619827 |
| Scapuloperoneal Myopathy, X-Linked Dominant |
|
Lower limb muscle weakness, Forearm supination contracture, Skeletal muscle atrophy, Knee flexion... |
OMIM:300695 |
| Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis |
OMIM:612069 |
| Morm Syndrome |
|
Aggressive behavior, Hyperactivity |
ORPHA:75858 |
| Classic Multiminicore Myopathy |
|
Absent muscle fiber merosin, Weakness of facial musculature, Muscle fiber atrophy, Right ventricu... |
ORPHA:324604 |
| Mismatch Repair Cancer Syndrome 4 |
|
Agenesis of corpus callosum, Gray matter heterotopia |
OMIM:619101 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Abnormal eating behavior, Hyperactivity, Anxiety, Aggressive behavior, Impulsivity |
ORPHA:101039 |
| Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Degeneration of anterior horn cells, Gliosis, Proximal amyotrophy, Hand tremor |
OMIM:604484 |
| Marinesco-Sjögren Syndrome |
|
Muscular dystrophy, Aplasia/Hypoplasia involving the skeletal musculature, Skeletal muscle atroph... |
ORPHA:559 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Muscular dystrophy, Limb-girdle muscular dystrophy, Muscle fiber atrophy, Myopathy |
ORPHA:369840 |
| Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Hamstring contractures, Skeletal muscle atrophy, Skeletal muscle hypertrophy, EMG: myopathic abno... |
OMIM:300696 |
| Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Reduced muscle fiber alpha dystroglycan, Proximal amyotrophy, Scapular winging, Ventriculomegaly,... |
ORPHA:206559 |
| Aicardi-Goutieres Syndrome 4 |
|
Death in childhood, Hydrocephalus, Ventriculomegaly, CSF lymphocytic pleiocytosis, Dystonia |
OMIM:610333 |
| Immunodeficiency 32A |
|
Lymphadenopathy, Lymphadenitis |
OMIM:614893 |
| Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Hydranencephaly, Hydrocephalus, Holoprosencephaly, Ventriculomegaly, Dandy-Walker malformation |
OMIM:617967 |
| Ullrich Congenital Muscular Dystrophy 1 |
|
Torticollis, Reduced muscle collagen VI, Type 1 muscle fiber predominance, Facial palsy, Congenit... |
OMIM:254090 |
| Congenital Myopathy 23 |
|
Facial diplegia, Type 1 muscle fiber predominance, Skeletal muscle atrophy, Nemaline bodies, Scap... |
OMIM:609285 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear/anxiety-related behavior, Hyperactivity, Bipolar affective disorder, Abnormal aggre... |
ORPHA:3077 |
| Obsolete: Arnold-Chiari Malformation Type Ii |
|
Syringomyelia, Polymicrogyria, Partial agenesis of the corpus callosum, Myelomeningocele, Hydroce... |
ORPHA:1136 |
| Myosclerosis, Autosomal Recessive |
|
Achilles tendon contracture, Facial palsy, Skeletal muscle atrophy, Neck joint contracture |
OMIM:255600 |
| Holoprosencephaly 5 |
|
Hydrocephalus, Lobar holoprosencephaly, Semilobar holoprosencephaly, Alobar holoprosencephaly, Ho... |
OMIM:609637 |
| Chromosome 3Q29 Deletion Syndrome |
|
Anxiety, Aggressive behavior, Hyperactivity |
OMIM:609425 |
| Distal 7Q11.23 Microduplication Syndrome |
|
Frontal encephalocele, Hydrocephalus, Congenital diaphragmatic hernia |
ORPHA:261102 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased specific anti-polysaccharide antibody level, Decreased CD69 upregulation upon TCR activ... |
OMIM:300853 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity |
OMIM:301076 |
| Neurocutaneous Melanocytosis |
|
Syringomyelia, Meningocele, Death in infancy, Ventriculomegaly, Dandy-Walker malformation, Abnorm... |
ORPHA:2481 |
| Landau-Kleffner Syndrome |
|
Emotional lability, Hyperactivity, Anxiety, Attention deficit hyperactivity disorder, Depression,... |
ORPHA:98818 |
| Biemond Syndrome Ii |
|
Hydrocephalus |
OMIM:210350 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Anxiety, Attention deficit hyperactivity disorder, Aggressive behavior, Hyperactivity |
OMIM:301013 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Polymicrogyria, Lateral ventricle dilatation, Gray matter heterotopia, Pachygyria, Lissencephaly,... |
ORPHA:300573 |
| Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Polymicrogyria, Hydranencephaly, Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum, Hy... |
OMIM:225790 |
| Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
| Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Hyperactivity, Anxiety, Self-injurious behavior, Depression, Aggressive behavior |
OMIM:619467 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Skeletal muscle atrophy, Increased CSF lactate, Increased variability in muscle fiber diameter |
ORPHA:238329 |
| Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Increased CSF lactate, Skeletal muscle atrophy, Lower-limb joint contracture |
OMIM:613710 |
| Fetal Akinesia Deformation Sequence 4 |
|
Camptodactyly, Skeletal muscle atrophy, Neonatal death, Prenatal death, Arthrogryposis multiplex ... |
OMIM:618393 |
| Rosaï-Dorfman Disease |
|
Lymphadenopathy, Dysgammaglobulinemia |
ORPHA:158014 |
| Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Shoulder girdle muscle weakness, Myopathy, Shoulder girdle muscle atrophy, Type 1 muscle fiber pr... |
OMIM:608358 |
| Muscular Dystrophy, Duchenne Type |
|
Muscular dystrophy, Hamstring contractures, Knee flexion contracture, Achilles tendon contracture... |
OMIM:310200 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Blepharospasm, Generalized dystonia, Writer's cramp, Tremor, Facial palsy, Oromandib... |
OMIM:128100 |
| Immunodeficiency 105 |
|
Hepatosplenomegaly, Decreased circulating total IgM, Decreased circulating IgA level, Decreased c... |
OMIM:619924 |
| Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Muscle fiber splitting, Myopathy, Type 1 muscle fiber predominance, Knee flexion contracture, Ske... |
OMIM:616313 |
| Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus |
ORPHA:26 |
| Mitochondrial Complex I Deficiency, Nuclear Type 31 |
|
Death in childhood, Skeletal muscle atrophy, Ventriculomegaly |
OMIM:618251 |
| Atrial Standstill |
|
Left ventricular noncompaction, Flexion contracture, Skeletal muscle atrophy, Muscular dystrophy |
ORPHA:1344 |
| Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Distal amyotrophy, Atrophy of the spinal cord, Abnormal lower motor neuron morphology, Amyotrophi... |
OMIM:602433 |
| Carcinoma Of Esophagus |
|
Lymphadenopathy |
ORPHA:70482 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3 |
|
Weakness of facial musculature, Skeletal muscle atrophy, Ragged-red muscle fibers, Scapular winging |
OMIM:617069 |
| Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Recurrent tonsillitis, Lymphadenopathy, Splenomegaly |
OMIM:618852 |
| Neural Tube Defects, Susceptibility To |
|
Myelomeningocele, Anencephaly, Spina bifida occulta, Hydrocephalus |
OMIM:182940 |
| Greig Cephalopolysyndactyly Syndrome |
|
Agenesis of corpus callosum, Hydrocephalus, Congenital diaphragmatic hernia |
ORPHA:380 |
| Boucher-Neuhauser Syndrome |
|
Distal amyotrophy, Intention tremor, Abnormal upper motor neuron morphology |
OMIM:215470 |
| Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Muscle fiber splitting, Type 1 muscle fiber predominance, Skeletal muscle atrophy, Increased endo... |
OMIM:617760 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Retrocollis, Axial dystonia, Distal amyotrophy, Muscle fiber atrophy, Skeletal muscle atrophy, He... |
ORPHA:300605 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Polymicrogyria, Hydrocephalus |
ORPHA:83473 |
| Immunodeficiency 104 |
|
Lymphadenopathy, Splenomegaly |
OMIM:608971 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hepatosplenomegaly, Abnormal natural killer cell physiology, Lymphadenopathy, Decreased circulati... |
OMIM:613101 |
| Gómez-López-Hernández Syndrome |
|
Hydrocephalus |
ORPHA:1532 |
| Mu-Heavy Chain Disease |
|
Lymphadenopathy, Splenomegaly, Increased circulating antibody level |
ORPHA:100024 |
| Roussy-Lévy Syndrome |
|
Intrinsic hand muscle atrophy, Lower limb muscle weakness, Distal amyotrophy, Postural tremor, Sk... |
ORPHA:3115 |
| Spastic Paraplegia 64, Autosomal Recessive |
|
Skeletal muscle atrophy |
OMIM:615683 |
| Spinocerebellar Ataxia 18 |
|
Tremor, Skeletal muscle atrophy, Limb muscle weakness |
OMIM:607458 |
| Myopathy, Scapulohumeroperoneal |
|
Wrist drop, Skeletal muscle atrophy, Nemaline bodies, Scapular winging, Achilles tendon contractu... |
OMIM:616852 |
| Immunodeficiency With Hyper-Igm, Type 4 |
|
Impaired Ig class switch recombination, Absence of lymph node germinal center |
OMIM:608184 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Macroglossia, Absent muscle fiber merosin, Astrocytosis, Muscular dystrophy, Muscle fiber atrophy... |
ORPHA:258 |
| Myopathy, Centronuclear, 1 |
|
Proximal amyotrophy, Distal lower limb muscle weakness, Type 1 muscle fiber predominance, Skeleta... |
OMIM:160150 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Polymicrogyria, Hydrocephalus, Knee flexion contracture, Skeletal muscle atrophy, Ventriculomegal... |
OMIM:603387 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Pachygyria, Hydrocephalus |
OMIM:618174 |
| Dpm1-Cdg |
|
Muscular dystrophy, Camptodactyly, Knee flexion contracture, Ventriculomegaly |
ORPHA:79322 |
| 8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity |
ORPHA:382 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Macroglossia, Shoulder girdle muscle weakness, Achilles tendon contracture, Thigh hypertrophy, Co... |
OMIM:607155 |
| Chromosome Xq25 Duplication Syndrome |
|
Anxiety, Hyperactivity |
OMIM:300979 |
| Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
|
Type 1 muscle fiber predominance, Central core regions in muscle fibers, Weakness of facial muscu... |
OMIM:117000 |
| Hydrolethalus Syndrome 2 |
|
Ventriculomegaly, Anencephaly, Agenesis of corpus callosum, Hydrocephalus |
OMIM:614120 |
| Autosomal Recessive Primary Microcephaly |
|
Gray matter heterotopia, Agenesis of corpus callosum, Pachygyria, Ventriculomegaly |
ORPHA:2512 |
| Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome |
|
Skeletal muscle atrophy, Myopathy |
ORPHA:2597 |
| Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Lymphadenopathy |
OMIM:617772 |
| Leber Optic Atrophy And Dystonia |
|
Increased CSF lactate, Skeletal muscle atrophy, Dystonia, Athetosis |
OMIM:500001 |
| Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Tremor, Oculogyric crisis, Dystonia, Skeletal muscle atrophy |
ORPHA:330050 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Self-injurious behavior, Anxiety, Aggressive behavior, Hyperactivity |
OMIM:271980 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Type II lissencephaly, Polymicrogyria, Hydrocephalus, Occipital encephalocele, Meningoencephaloce... |
OMIM:236670 |
| Neuropathy, Congenital Hypomyelinating, 2 |
|
Distal amyotrophy, Skeletal muscle atrophy, Facial diplegia |
OMIM:618184 |
| L1 Syndrome |
|
Aqueductal stenosis, Skeletal muscle atrophy, Hydrocephalus |
ORPHA:275543 |
| Glutathionuria |
|
Tremor, Agenesis of corpus callosum, Action tremor, Gray matter heterotopia |
OMIM:231950 |
| Extensor Tendons Of Finger Anomalies |
|
Camptodactyly of finger, Skeletal muscle atrophy |
ORPHA:3294 |
| Immunodeficiency, Common Variable, 1 |
|
