Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Attention Deficit-Hyperactivity Disorder 8 |
|
Attention deficit hyperactivity disorder |
OMIM:619957 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Autism, Susceptibility To, X-Linked 4 |
|
Motor tics, Attention deficit hyperactivity disorder, Impulsivity, Aggressive behavior |
OMIM:300830 |
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7 |
|
Attention deficit hyperactivity disorder |
OMIM:613003 |
Gilles De La Tourette Syndrome |
|
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... |
OMIM:137580 |
Autism, Susceptibility To, 20 |
|
Attention deficit hyperactivity disorder, Compulsive behaviors |
OMIM:618830 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Amyotrophic Lateral Sclerosis 20 |
|
Amyotrophic lateral sclerosis, Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy |
OMIM:615426 |
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 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Intellectual Developmental Disorder, Autosomal Recessive 2 |
|
Self-injurious behavior, Attention deficit hyperactivity disorder |
OMIM:607417 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P... |
OMIM:601954 |
Miyoshi Myopathy |
|
Distal lower limb amyotrophy, Tibialis anterior muscle atrophy, Tibialis muscle weakness, Quadric... |
ORPHA:45448 |
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 |
|
Calf muscle pseudohypertrophy, Scapular winging, Pelvic girdle muscle atrophy, Limb-girdle muscle... |
OMIM:604286 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Muscular dystrophy, Ventriculomegaly, Type II lissencephaly |
OMIM:614830 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
Miyoshi Muscular Dystrophy 3 |
|
Quadriceps muscle atrophy, Quadriceps muscle weakness, Calf muscle hypertrophy, Muscular dystroph... |
OMIM:613319 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 |
|
Facial palsy, Quadriceps muscle atrophy, Calf muscle hypertrophy, Shoulder girdle muscle weakness... |
OMIM:611307 |
Craniofacial Conodysplasia |
|
Spinal cord compression, Hydrocephalus |
ORPHA:85168 |
Asperger Syndrome, Susceptibility To, 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608631 |
Tibial Muscular Dystrophy, Tardive |
|
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles |
OMIM:600334 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Abnormal lower motor neuron morphology, Hand muscle atrophy, Hand muscle weakness, Distal amyotro... |
OMIM:607641 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Scapular winging, Myositis, Facial palsy, Eosinophilia, Flexion contracture, Proximal amyotrophy,... |
OMIM:253600 |
Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus, Trapezius muscle aplasia |
OMIM:600257 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Ventriculomegaly, Type II lissencephaly, Hydrocephalus, Simplified gyral pattern, Lissencephaly, ... |
OMIM:613153 |
Muscular Dystrophy, Progressive Pectorodorsal |
|
Scapular winging, Shoulder girdle muscle weakness, Muscular dystrophy |
OMIM:310095 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Reduced muscle fiber alpha dystroglycan, Fatty replacement of skeletal muscle, Achilles tendon co... |
ORPHA:370980 |
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Central core regions in muscle fibers, Muscular dystrophy |
OMIM:159050 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Centrally nucleated sk... |
OMIM:254110 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, EMG: myopathic... |
OMIM:608423 |
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 |
|
Scapular winging, Pelvic girdle amyotrophy, Lower limb muscle weakness, Ankle flexion contracture... |
ORPHA:267 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Muscular dystrophy, Increased vari... |
OMIM:608807 |
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans |
|
Myopathy, Scapulohumeral muscular dystrophy |
OMIM:160570 |
Miyoshi Muscular Dystrophy 1 |
|
Distal amyotrophy, Lower limb muscle weakness, Muscular dystrophy, Deposits immunoreactive to bet... |
OMIM:254130 |
Spinal Muscular Atrophy, Type Iii |
|
Pelvic girdle amyotrophy, Spinal muscular atrophy, Hand tremor, Degeneration of anterior horn cel... |
OMIM:253400 |
Adenylosuccinate Synthetase-Like 1-Related Distal Myopathy |
|
Distal lower limb amyotrophy, Quadriceps muscle atrophy, Quadriceps muscle weakness, Upper limb a... |
ORPHA:482601 |
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle weakness, Mu... |
OMIM:601846 |
Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Gray matter h... |
OMIM:604213 |
Muscular Dystrophy, Mabry Type |
|
Late-onset muscular dystrophy |
OMIM:310000 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ... |
OMIM:606843 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 12 |
|
Limb-girdle muscle weakness, Muscular dystrophy |
OMIM:616094 |
Spinal Muscular Atrophy, Segmental |
|
Hand muscle atrophy, Abnormal anterior horn cell morphology, Segmental spinal muscular atrophy |
OMIM:183020 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, A... |
OMIM:619566 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 5 |
|
Thenar muscle atrophy, Thenar muscle weakness, Upper limb amyotrophy, Upper limb muscle weakness,... |
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, Calf muscle hypertrophy, Shoulder girdle muscle weakness... |
ORPHA:34515 |
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Distal lower limb amyotrophy, Scapular winging, Peroneal muscle weakness, Peroneal muscle atrophy... |
OMIM:181350 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, EMG:... |
OMIM:253601 |
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Increased variability... |
OMIM:613204 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Facial palsy, Pachygyria, Achilles tendon contracture, Elbow flexion contracture, Abnormality of ... |
OMIM:608840 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Polymicrogyria, Ventriculomegaly |
OMIM:615938 |
Muscular Dystrophy, Congenital, 1B |
|
Facial palsy, Achilles tendon contracture, Generalized muscle hypertrophy, Pectoralis amyotrophy,... |
OMIM:604801 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
|
Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Muscular dystrophy, Ankle f... |
OMIM:613818 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 |
|
Calf muscle hypertrophy, Scapular winging, Muscular dystrophy, Proximal amyotrophy |
OMIM:601287 |
Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death, Skeletal muscle atrophy, Multiple joint contractures, Arthrogryposis multiplex co... |
OMIM:611369 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Facial palsy, Hydrocephalus, Flexion contracture, Macroglossia, Calf muscle hypertrophy, Muscular... |
OMIM:613155 |
Spinal Muscular Atrophy, Type Ii |
|
Degeneration of anterior horn cells, Skeletal muscle atrophy, Spinal muscular atrophy, Hand tremor |
OMIM:253550 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Congenital muscular dystrophy, Type II ... |
ORPHA:324416 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Myopathy, Musc... |
OMIM:612999 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas... |
OMIM:608106 |
Myopathy, Myofibrillar, 2 |
|
Limb-girdle muscle weakness, Quadriceps muscle weakness, Skeletal muscle autophagosome accumulati... |
OMIM:608810 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Facial palsy, Flexion contracture, Shoulder girdle muscle weakness, Muscular dystrophy, Muscle fi... |
OMIM:603511 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Type II lissencephaly, Hydrocep... |
ORPHA:272 |
Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Calf muscle hypertrophy, Muscular dystrophy, Shoulder girdle muscle atrophy, Centrally nucleated ... |
OMIM:613530 |
Lissencephaly 1 |
|
Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria, Ventric... |
OMIM:607432 |
Myopathy, Distal, 3 |
|
Distal amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Joint contracture of the han... |
OMIM:610099 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Flexion contracture, Calf m... |
OMIM:609308 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Polymicrogyria, Ventriculomegaly |
OMIM:615937 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas... |
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 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
Spinal Muscular Atrophy, Type Iv |
|
Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ... |
OMIM:271150 |
Kimura Disease |
|
Increased circulating IgE level, Lymphadenopathy, Follicular hyperplasia |
ORPHA:482 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 |
|
Skeletal muscle atrophy, Flexion contracture, Muscular dystrophy |
OMIM:613723 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2 |
|
Skeletal muscle hypertrophy, Muscular dystrophy |
OMIM:613158 |
Hereditary Progressive Mucinous Histiocytosis |
|
Lymphadenopathy |
ORPHA:158025 |
Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:312500 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
Muscular Dystrophy-Dystroglycanopathy (Congenital Without Impaired Intellectual Development), Type B, 4 |
|
Muscular dystrophy |
OMIM:613152 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Abnormality of neuronal migration, Ventriculomegaly |
OMIM:618709 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Normal pressure hydrocephalus, Kinetic tremor, Ventriculomegaly |
OMIM:611808 |
Isolated Lissencephaly Type 1 Without Known Genetic Defects |
|
Enlarged sylvian cistern, Gray matter heterotopia, Pachygyria, Agyria, Ventriculomegaly |
ORPHA:1084 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Skeletal muscle atrophy, Ventriculomegaly, Facial palsy, Elbow contracture, Achilles tendon contr... |
OMIM:606612 |
Dpm3-Cdg |
|
Calf muscle hypertrophy, Rimmed vacuoles, Muscular dystrophy, Pelvic girdle muscle weakness |
ORPHA:263494 |
Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Hydrocephalus, Polymicrogyria, Muscular dystrophy, Type II lissencephaly |
OMIM:615181 |
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3 |
|
Calf muscle pseudohypertrophy, Scapular winging, Muscular dystrophy, Achilles tendon contracture |
ORPHA:62 |
Cortical Dysplasia, Complex, With Other Brain Malformations 3 |
|
Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria |
OMIM:615411 |
Lissencephaly 3 |
|
Agyria, Periventricular laminar heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, ... |
OMIM:611603 |
Muscular Dystrophy, Becker Type |
|
Calf muscle pseudohypertrophy, Muscular dystrophy |
OMIM:300376 |
Congenital Disorder Of Glycosylation, Type Iid |
|
Myopathy, Hydrocephalus, Decreased muscle mass, Dandy-Walker malformation |
OMIM:607091 |
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
|
Skeletal muscle atrophy, Macroglossia, Calf muscle hypertrophy, Muscular dystrophy, Triangular to... |
OMIM:616827 |
Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99977 |
Muscular Dystrophy, Barnes Type |
|
Myopathy, Muscular dystrophy |
OMIM:158800 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Death in infancy, Ventriculomegaly, Subcortical heterotopia, Agyria, Type II lisse... |
OMIM:614643 |
Microlissencephaly |
|
Subcortical heterotopia, Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Pa... |
ORPHA:1083 |
Lissencephaly, X-Linked, 1 |
|
Death in infancy, Gray matter heterotopia, Lissencephaly, Pachygyria, Agenesis of corpus callosum... |
OMIM:300067 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, Prox... |
OMIM:614302 |
Band Heterotopia |
|
Hydrocephalus, Subcortical band heterotopia, Gray matter heterotopia, Lateral ventricle dilatatio... |
OMIM:600348 |
Muscular Dystrophy, Congenital, Lmna-Related |
|
Hip contracture, Elbow contracture, Scapuloperoneal amyotrophy, Achilles tendon contracture, Hams... |
OMIM:613205 |
Multiminicore Myopathy |
|
Proximal muscle weakness in upper limbs, Abnormal muscle fiber morphology, Proximal muscle weakne... |
ORPHA:598 |
Pontocerebellar Hypoplasia, Type 15 |
|
Death in infancy, Hydrocephalus, Partial agenesis of the corpus callosum, Simplified gyral patter... |
OMIM:619302 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Myopathy, Calf muscle hy... |
ORPHA:86812 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3 |
|
Congenital muscular dystrophy, Muscular dystrophy |
OMIM:613151 |
Lethal Congenital Contracture Syndrome 4 |
|
Skeletal muscle atrophy, Multiple joint contractures, Flexion contracture, Distal arthrogryposis |
OMIM:614915 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Joint contracture, Elbow flexion contracture, Muscular dystrophy, Generalized amyotrophy |
OMIM:616516 |
Gne Myopathy |
|
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... |
ORPHA:602 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Flexion contracture, Muscle fiber necrosi... |
OMIM:253700 |
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Muscular dystrophy |
OMIM:204730 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14 |
|
Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Muscular dystrophy |
OMIM:615352 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Abnormal lower motor neuron morphology, Spinal muscular atrophy, Scapuloperoneal amyotrophy, Dist... |
OMIM:611067 |
Muscular Dystrophy, Cardiac Type |
|
Muscular dystrophy |
OMIM:309930 |
Dystonia 31 |
|
Generalized dystonia, Writer's cramp, Leg dystonia, Arm dystonia, Abnormal posturing, Craniofacia... |
OMIM:619565 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increased variability i... |
OMIM:613157 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Hydrocephalus, Flexion contracture, Lissencephaly, Muscular dystrophy, Agenesis of corpus callosu... |
OMIM:615249 |
Walker-Warburg Syndrome |
|
Skeletal muscle atrophy, Ventriculomegaly, Abnormal cortical gyration, Hydrocephalus, Abnormality... |
ORPHA:899 |
Spinal Muscular Atrophy, Facioscapulohumeral Type |
|
Skeletal muscle atrophy, Spinal muscular atrophy |
OMIM:182970 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
ORPHA:2807 |
Spinal Muscular Atrophy, Jokela Type |
|
Calf muscle hypertrophy, Skeletal muscle atrophy, Tremor, Spinal muscular atrophy |
OMIM:615048 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Tremor, Distal amyotrophy, Spinal muscular atrophy, Proximal amyotrophy |
OMIM:182980 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Distal lower limb amyotrophy, Postural tremor, Hand muscle weakness, Quadriceps muscle weakness, ... |
ORPHA:99947 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
|
Hypoglycosylation of alpha-dystroglycan, Peroneal muscle weakness, Flexion contracture, Skeletal ... |
OMIM:611588 |
Facioscapulohumeral Muscular Dystrophy 1 |
|
Skeletal muscle atrophy, Scapular winging, Facial palsy, Calf muscle hypertrophy, Shoulder girdle... |
OMIM:158900 |
Digital Extensor Muscle Aplasia-Polyneuropathy |
|
Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Camptodactyly of ... |
ORPHA:2926 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... |
OMIM:617072 |
Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Increased endomysial connective tissue, Flexion contracture, Congenital muscular dystrophy, Abnor... |
OMIM:607855 |
Myopathy, Distal, With Rimmed Vacuoles |
|
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... |
OMIM:617158 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Q |
|
Skeletal muscle atrophy, Distal lower limb muscle weakness |
OMIM:615025 |
Microcephaly, Seizures, And Developmental Delay |
|
Skeletal muscle atrophy, Simplified gyral pattern, Ventriculomegaly |
OMIM:613402 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Occipital encephalocele, Calf muscle pseudohypertrophy, Hypoglycosylati... |
ORPHA:370959 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Tremor, Hydrocephalus, Elbow flexion contracture, Simplified gyral pattern |
OMIM:619470 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Skeletal muscle atrophy, Flexion contracture |
OMIM:611105 |
Pineocytoma |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251912 |
Creatine Phosphokinase, Elevated Serum |
|
Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Muscular dystrophy, EMG: myopa... |
OMIM:123320 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Skeletal muscle atrophy, Exaggerated startle response, Agyria, Hypoplasia of the p... |
OMIM:253800 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Facial palsy, Flexion contracture, Skeletal muscle hypertrophy, Macroglossia, Muscular dystrophy,... |
OMIM:613156 |
Juvenile Primary Lateral Sclerosis |
|
Abnormal upper motor neuron morphology, Skeletal muscle atrophy |
ORPHA:247604 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Increase... |
OMIM:617066 |
Sub-Cortical Nodular Heterotopia |
|
Polymicrogyria, Subcortical heterotopia, Agenesis of corpus callosum, Abnormality of neuronal mig... |
ORPHA:101029 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Death in infancy, Muscular dystrophy |
OMIM:613869 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus, Agenesis of corpus callosum |
OMIM:166990 |
Inclusion Body Myositis |
|
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red... |
ORPHA:611 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Death in infancy, Type II lissencephaly, Hydrocephalus, Skeletal muscle hypertroph... |
OMIM:613150 |
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at... |
ORPHA:98905 |
Myopathy, Myofibrillar, 6 |
|
Scapular winging, Facial palsy, Knee flexion contracture, Generalized amyotrophy, Muscular dystro... |
OMIM:612954 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased vari... |
OMIM:255320 |
Immunodeficiency 75 With Lymphoproliferation |
|
Hepatosplenomegaly, Lymphadenopathy, Follicular hyperplasia |
OMIM:619126 |
Acalvaria |
|
Hydrocephalus, Holoprosencephaly, Spina bifida, Abnormality of neuronal migration |
ORPHA:945 |
Ataxia-Oculomotor Apraxia Type 4 |
|
Progressive distal muscular atrophy, Distal lower limb muscle weakness, Muscular dystrophy, Dystonia |
ORPHA:459033 |
Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Hyperactivity, Agitation |
OMIM:619970 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus, Gray matter heterotopia, Dysgyria, Type II lissencephaly |
ORPHA:352682 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity |
ORPHA:436151 |
Myopathy, Distal, 4 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the... |
OMIM:614065 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Skeletal muscle atrophy, Progressive distal muscular atrophy, Spinal muscular atrophy, Facial pal... |
OMIM:159950 |
Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Partial absence of specific antibody response to tetanus vaccine, Lymphadenop... |
OMIM:618261 |
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis |
OMIM:205250 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:1538 |
Bethlem Myopathy 1 |
|
Skeletal muscle atrophy, Torticollis, Congenital muscular torticollis, Camptodactyly of finger, A... |
OMIM:158810 |
Amyotrophic Lateral Sclerosis 11 |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis |
OMIM:612577 |
Mantle Cell Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
Chiari Malformation Type Ii |
|
Spina bifida, Myelomeningocele, Hydrocephalus, Opisthotonus, Cervical myelopathy, Gray matter het... |
OMIM:207950 |
Muscular Atrophy, Malignant Neurogenic |
|
Skeletal muscle atrophy |
OMIM:158650 |
Bethlem Myopathy |
|
Scapular winging, Multiple joint contractures, Reduced muscle collagen VI, Interphalangeal joint ... |
ORPHA:610 |
Amyotonia Congenita |
|
Skeletal muscle atrophy |
OMIM:205000 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Ventriculomegaly, Type II lissencephaly, Hydrocephalus, Flexion contracture, Lateral ventricle di... |
OMIM:613154 |
Congenital Myopathy 3 With Rigid Spine |
|
Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, Increased variabil... |
OMIM:602771 |
Hereditary Myopathy With Early Respiratory Failure |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis muscle weakness, H... |
ORPHA:178464 |
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Motheaten muscle fibers, Musc... |
OMIM:226670 |
Edinburgh Malformation Syndrome |
|
Death in infancy, Hydrocephalus |
OMIM:129850 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia |
|
Amyotrophic lateral sclerosis, Distal amyotrophy |
OMIM:205200 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Hydrocephalus, Muscular dystrophy, Increased variability in muscle fiber diameter, Polymicrogyria... |
OMIM:616538 |
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus |
|
Skeletal muscle atrophy |
OMIM:158500 |
Spastic Paraplegia 42, Autosomal Dominant |
|
Skeletal muscle atrophy |
OMIM:612539 |
Myopathy, Distal, 5 |
|
Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower... |
OMIM:617030 |
Melanosis, Neurocutaneous |
|
Choroid plexus papilloma, Death in infancy, Hydrocephalus, Syringomyelia, Dandy-Walker malformation |
OMIM:249400 |
Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
Neu-Laxova Syndrome |
|
Skeletal muscle atrophy, Ventriculomegaly, Abnormal cortical gyration, Spina bifida, Polymicrogyr... |
ORPHA:2671 |
Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus |
ORPHA:99966 |
Caspase 8 Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:607271 |
Spastic Paraplegia 31, Autosomal Dominant |
|
Skeletal muscle atrophy, Distal amyotrophy, Lower limb muscle weakness |
OMIM:610250 |
Autosomal Recessive Spastic Paraplegia Type 62 |
|
Skeletal muscle atrophy, Knee flexion contracture |
ORPHA:401785 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Skeletal muscle atrophy, Abnormal anterior horn cell morphology, Paucity of anterior horn motor n... |
OMIM:611890 |
Hemimegalencephaly |
|
Abnormal neuron morphology, Gray matter heterotopia, Gliosis, Pachygyria, Polymicrogyria, Ventric... |
ORPHA:99802 |
Kerion Celsi |
|
Lymphadenopathy |
ORPHA:499 |
Amyotrophic Lateral Sclerosis Type 4 |
|
Skeletal muscle atrophy |
ORPHA:357043 |
Fried Syndrome |
|
Skeletal muscle atrophy, Hydrocephalus |
ORPHA:85335 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Achilles tendon contractur... |
OMIM:620068 |
Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:66661 |
Periventricular Heterotopia With Microcephaly, Autosomal Recessive |
|
Periventricular nodular heterotopia, Periventricular heterotopia |
OMIM:608097 |
Spastic Paraplegia 73, Autosomal Dominant |
|
Skeletal muscle atrophy |
OMIM:616282 |
Ullrich Congenital Muscular Dystrophy 2 |
|
Increased variability in muscle fiber diameter, Flexion contracture, Congenital muscular dystroph... |
OMIM:616470 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Lymphadenopathy, Increased circulating IgM level, Decreased circulating IgG2 level,... |
OMIM:615513 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,... |
OMIM:616812 |
Beemer Lethal Malformation Syndrome |
|
Hydrocephalus |
OMIM:209970 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14 |
|
Hypoglycosylation of alpha-dystroglycan, Muscular dystrophy |
OMIM:615350 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Distal lower limb amyotrophy, Hip contracture, Nonprogressive muscular atrophy, Spinal muscular a... |
OMIM:600175 |
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle... |
OMIM:618655 |
Amyotrophic Lateral Sclerosis 9 |
|
Amyotrophic lateral sclerosis, Distal amyotrophy |
OMIM:611895 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, P... |
OMIM:613954 |
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 |
Amyotrophic Lateral Sclerosis 8 |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Postural tremor, Proximal amyotrophy, Dis... |
OMIM:608627 |
Mitochondrial Complex I Deficiency, Nuclear Type 23 |
|
Skeletal muscle atrophy, Increased CSF lactate, Dystonia |
OMIM:618244 |
Amyotrophic Lateral Sclerosis 1 |
|
Degeneration of anterior horn cells, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Dege... |
OMIM:105400 |
Lethal Congenital Contracture Syndrome 1 |
|
Skeletal muscle atrophy, Hypoplasia of the musculature, Paucity of anterior horn motor neurons, N... |
OMIM:253310 |
Spastic Paraplegia 18B, Autosomal Recessive |
|
Skeletal muscle atrophy, Joint contracture, Lower limb muscle weakness |
OMIM:611225 |
Epilepsy, Progressive Myoclonic, 9 |
|
Simplified gyral pattern, Agenesis of corpus callosum, Generalized amyotrophy, Ventriculomegaly |
OMIM:616540 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating total IgM, Cervical lymphadenopathy, Decreased circulating IgG level |
OMIM:618987 |
Lipodystrophy, Familial Partial, Type 6 |
|
Skeletal muscle atrophy, Lower limb muscle weakness, Muscular dystrophy, Myopathy |
OMIM:615980 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14 |
|
Hypoglycosylation of alpha-dystroglycan, Joint contracture, Generalized limb muscle atrophy, Musc... |
OMIM:615351 |
Spastic Paraplegia 62, Autosomal Recessive |
|
Skeletal muscle atrophy |
OMIM:615681 |
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Proximal amyotrophy |
OMIM:608030 |
Amyotrophic Lateral Sclerosis, Susceptibility To, 24 |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis |
OMIM:617892 |
Nemaline Myopathy 6 |
|
Skeletal muscle atrophy, Limb muscle weakness, Nemaline bodies, Myopathy |
OMIM:609273 |
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Hydrocephalus |
OMIM:266100 |
Amyotrophic Lateral Sclerosis 18 |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis |
OMIM:614808 |
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 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder |
OMIM:619927 |
Hartnup Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:234500 |
Congenital Hydrocephalus |
|
Abnormal cortical gyration, Hydrocephalus, Colpocephaly, Lissencephaly, Ventriculomegaly |
ORPHA:2185 |
Spastic Paraplegia 63, Autosomal Recessive |
|
Skeletal muscle atrophy |
OMIM:615686 |
Arthrogryposis Multiplex Congenita 2, Neurogenic Type |
|
Skeletal muscle atrophy, Congenital contracture, Arthrogryposis multiplex congenita, Myopathy |
OMIM:208100 |
Dysequilibrium Syndrome |
|
Skeletal muscle atrophy |
ORPHA:1766 |
Hyperprolinemia, Type I |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:239500 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Absent specific antibody response, Follicular hyperplasia, Lymphadenopathy, Decreased circulating... |
OMIM:619846 |
Lissencephaly 5 |
|
Occipital encephalocele, Hydrocephalus, Subcortical band heterotopia, Gray matter heterotopia, Ty... |
OMIM:615191 |
Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior |
OMIM:605899 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Phonic tics, Compulsive behaviors, Aggressive behavior |
OMIM:301107 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:1008 |
Muscular Dystrophy, Congenital, Megaconial Type |
|
Myopathy, Increased endomysial connective tissue, Facial palsy, Muscular dystrophy |
OMIM:602541 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Pachygyria, Simplified gyral pattern, Abnormality of neuronal migration, Gray matter heterotopia,... |
OMIM:604317 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... |
ORPHA:206549 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Skeletal muscle atrophy, Dysplastic corpus callosum, Type 1 muscle fiber predominance, Dystonia |
OMIM:618276 |
Bilateral Striopallidodentate Calcinosis |
|
Abnormality of neuronal migration, Ventriculomegaly |
ORPHA:1980 |
Microhydranencephaly |
|
Skeletal muscle atrophy, Multiple joint contractures, Athetosis, Generalized amyotrophy, Hydranen... |
OMIM:605013 |
Spastic Paraplegia 2, X-Linked |
|
Skeletal muscle atrophy, Degeneration of the lateral corticospinal tracts, Flexion contracture, S... |
OMIM:312920 |
Charcot-Marie-Tooth Disease, Axonal, Type 2N |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Lower limb muscle weakness, Foot dorsiflex... |
OMIM:613287 |
Masa Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:303350 |
Mohr-Tranebjaerg Syndrome |
|
Tremor, Abnormal posturing, Intrinsic hand muscle atrophy, Dystonia |
OMIM:304700 |
Developmental And Epileptic Encephalopathy 36 |
|
Hydrocephalus, Flexion contracture |
OMIM:300884 |
Autosomal Dominant Spastic Paraplegia Type 41 |
|
Abnormal cerebrospinal fluid morphology, Degeneration of the lateral corticospinal tracts, Hand m... |
ORPHA:320355 |
Craniotelencephalic Dysplasia |
|
Hydrocephalus, Frontal encephalocele, Agenesis of corpus callosum, Lissencephaly |
ORPHA:1528 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Hip contracture, Abnormal anterior horn cell morphology, Interphalangeal... |
ORPHA:1145 |
Alexander Disease |
|
Death in infancy, Hydrocephalus, Death in adolescence, Death in childhood, Increased CSF protein ... |
OMIM:203450 |
Nemaline Myopathy 10 |
|
Death in infancy, Skeletal muscle atrophy, Facial palsy, Fatty replacement of skeletal muscle, Fl... |
OMIM:616165 |
Legg-Calvé-Perthes Disease |
|
Skeletal muscle atrophy |
ORPHA:2380 |
Autosomal Dominant Spastic Paraplegia Type 42 |
|
Lower limb muscle weakness, Abnormal cerebrospinal fluid morphology, Degeneration of the lateral ... |
ORPHA:171863 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Ankle flexion contracture, Tremor, Knee flexion contracture, Muscular dystrophy, Camptodactyly |
OMIM:608799 |
1Q21.1 Microduplication Syndrome |
|
Arthrogryposis multiplex congenita, Hydrocephalus |
ORPHA:250994 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy, Dystonia,... |
OMIM:167320 |
Lissencephaly 8 |
|
Occipital encephalocele, Skeletal muscle atrophy, Type II lissencephaly, Polymicrogyria, Agyria, ... |
OMIM:617255 |
Pontocerebellar Hypoplasia, Type 1A |
|
Spinal muscular atrophy, Hand tremor, Degeneration of anterior horn cells, Congenital contracture... |
OMIM:607596 |
Facial Onset Sensory And Motor Neuronopathy |
|
Skeletal muscle atrophy |
ORPHA:85162 |
Spastic Paraplegia 45, Autosomal Recessive |
|
Skeletal muscle atrophy, Flexion contracture, Dysplastic corpus callosum |
OMIM:613162 |
Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus |
OMIM:220200 |
Immunodeficiency, Common Variable, 2 |
|
Impaired T cell function, Follicular hyperplasia, Splenomegaly, Lymphadenopathy, Decreased circul... |
OMIM:240500 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Type II lissencephaly, Hy... |
OMIM:615287 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased circulating IgA level, Mediastinal lymphadenopathy, Cervical lymphadenopathy, Splenomeg... |
OMIM:618534 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Hepatosplenomegaly, Increased circulating IgG level, Increased circulating IgE level, Lymphadenop... |
OMIM:618982 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, H... |
OMIM:205100 |
Oculopharyngodistal Myopathy 3 |
|
Internally nucleated skeletal muscle fibers, Tremor, Increased variability in muscle fiber diamet... |
OMIM:619473 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Death in infancy, Hydrocephalus |
OMIM:258320 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Increased circulating IgG level, Increased circulating IgM level, Lymphadenopathy, Fluctuating sp... |
OMIM:619220 |
Hemangioblastoma |
|
Upper limb muscle weakness, Hydrocephalus, Spinal hemangioblastoma, Lower limb muscle weakness |
ORPHA:252054 |
Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, G... |
OMIM:105550 |
Pontocerebellar Hypoplasia, Type 1C |
|
Skeletal muscle atrophy, Joint contracture, Spinal muscular atrophy, Death in childhood |
OMIM:616081 |
Subependymal Nodular Heterotopia |
|
Occipital encephalocele, Myelomeningocele, Meningocele, Partial agenesis of the corpus callosum, ... |
ORPHA:101030 |
Adenocarcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99976 |
Mismatch Repair Cancer Syndrome 4 |
|
Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:619101 |
Nemaline Myopathy 5C, Autosomal Dominant |
|
Skeletal muscle atrophy, Scapular winging, Quadriceps muscle weakness, Achilles tendon contractur... |
OMIM:620389 |
Spinal Muscular Atrophy, X-Linked 2 |
|
Multiple joint contractures, Facial palsy, Spinal muscular atrophy, Flexion contracture, Degenera... |
OMIM:301830 |
Combined Oxidative Phosphorylation Deficiency 6 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Increased CSF lactate |
OMIM:300816 |
Autosomal Recessive Spastic Paraplegia Type 76 |
|
Skeletal muscle atrophy, Lower limb muscle weakness |
ORPHA:488594 |
Gemignani Syndrome |
|
Skeletal muscle atrophy |
ORPHA:2074 |
Lissencephaly 6 With Microcephaly |
|
Periventricular heterotopia, Partial agenesis of the corpus callosum, Simplified gyral pattern, M... |
OMIM:616212 |
Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Distal amyotrophy |
OMIM:602099 |
Classic Multiminicore Myopathy |
|
Absent muscle fiber merosin, Multiple joint contractures, Increased muscle lipid content, General... |
ORPHA:324604 |
Myopathy, Sarcoplasmic Body |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Increased variability in mus... |
OMIM:620286 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis |
OMIM:612069 |
Scapuloperoneal Myopathy, X-Linked Dominant |
|
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Scapuloperoneal myopathy,... |
OMIM:300695 |
Holoprosencephaly 5 |
|
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... |
OMIM:609637 |
Spastic Paraplegia 70, Autosomal Recessive |
|
Skeletal muscle atrophy, Achilles tendon contracture |
OMIM:620323 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Marinesco-Sjögren Syndrome |
|
Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Myopathy, Muscula... |
ORPHA:559 |
Distal 7Q11.23 Microduplication Syndrome |
|
Hydrocephalus, Frontal encephalocele, Congenital diaphragmatic hernia |
ORPHA:261102 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Degeneration of anterior horn cells, Gliosis, Hand tremor, Proximal amyotrophy |
OMIM:604484 |
Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Torticollis, Reduced muscle collagen VI, Facial palsy, Flexion contracture, Muscle fiber necrosis... |
OMIM:254090 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring contractures, S... |
OMIM:300696 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Muscle fiber atrophy, Myopathy, Limb-girdle muscular dystrophy, Muscular dystrophy |
ORPHA:369840 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Scapular winging, Reduced muscle fiber alpha dystroglycan, Scapuloperoneal amyotrophy, Proximal a... |
ORPHA:206559 |
Immunodeficiency 32A |
|
Lymphadenitis, Lymphadenopathy |
OMIM:614893 |
Aicardi-Goutieres Syndrome 4 |
|
Hydrocephalus, CSF lymphocytic pleiocytosis, Death in childhood, Dystonia, Ventriculomegaly |
OMIM:610333 |
Congenital Myopathy 23 |
|
Skeletal muscle atrophy, Scapular winging, Flexion contracture, Facial diplegia, Type 1 muscle fi... |
OMIM:609285 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Mediastinal lymphadenopathy, Splenomegaly, Decreased specific anti-polysaccharide antibody level,... |
OMIM:300853 |
Myosclerosis, Autosomal Recessive |
|
Skeletal muscle atrophy, Achilles tendon contracture, Neck joint contracture, Facial palsy |
OMIM:255600 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Death in infancy, Hydrocephalus, Increased CSF lactate, Choreoathetosis, Death in childhood, Colp... |
OMIM:616034 |
Immunodeficiency 109 With Lymphoproliferation |
|
Generalized lymphadenopathy, Splenomegaly, Decreased circulating IgG level, Complete or near-comp... |
OMIM:620282 |
Nemaline Myopathy 2 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Thenar muscle atrophy, Fatty replacement ... |
OMIM:256030 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Skeletal muscle atrophy, Increased variability in muscle fiber diameter, Increased CSF lactate |
ORPHA:238329 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Ventriculomegaly, Hypoplasia of the musculature, Hydrocephalus, Hydranencephaly, Joint contractur... |
OMIM:225790 |
Muscular Dystrophy, Duchenne Type |
|
Calf muscle pseudohypertrophy, Achilles tendon contracture, Flexion contracture, Hamstring contra... |
OMIM:310200 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... |
OMIM:619827 |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
Biemond Syndrome Ii |
|
Hydrocephalus |
OMIM:210350 |
Neurocutaneous Melanocytosis |
|
Death in infancy, Ventriculomegaly, Meningocele, Abnormality of neuronal migration, Syringomyelia... |
ORPHA:2481 |
Polymicrogyria Due To Tubb2B Mutation |
|
Perisylvian polymicrogyria, Gray matter heterotopia, Lateral ventricle dilatation, Lissencephaly,... |
ORPHA:300573 |
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Calf muscle pseudohypertrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Scap... |
OMIM:608358 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Multiple joint contractures, Generalized dystonia, Writer's cramp, Facial palsy, Tre... |
OMIM:128100 |
Rosaï-Dorfman Disease |
|
Dysgammaglobulinemia, Lymphadenopathy |
ORPHA:158014 |
Immunodeficiency 105 |
|
Absence of lymph node germinal center, Decreased circulating antibody level, Hepatosplenomegaly, ... |
OMIM:619924 |
Fetal Akinesia Deformation Sequence 4 |
|
Skeletal muscle atrophy, Prenatal death, Camptodactyly, Neonatal death, Arthrogryposis multiplex ... |
OMIM:618393 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Skeletal muscle atrophy, Lower-limb joint contracture, Increased CSF lactate |
OMIM:613710 |
Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T... |
OMIM:616313 |
Mitochondrial Complex I Deficiency, Nuclear Type 31 |
|
Skeletal muscle atrophy, Ventriculomegaly, Death in childhood |
OMIM:618251 |
Atrial Standstill |
|
Skeletal muscle atrophy, Flexion contracture, Left ventricular noncompaction, Muscular dystrophy |
ORPHA:1344 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3 |
|
Skeletal muscle atrophy, Scapular winging, Ragged-red muscle fibers, Weakness of facial musculature |
OMIM:617069 |
Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus |
ORPHA:26 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o... |
OMIM:602433 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation |
OMIM:617967 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
Boucher-Neuhauser Syndrome |
|
Abnormal upper motor neuron morphology, Distal amyotrophy, Intention tremor |
OMIM:215470 |
Immunodeficiency 104 |
|
Splenomegaly, Lymphadenopathy |
OMIM:608971 |
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... |
OMIM:617760 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors |
ORPHA:101039 |
Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Congenital diaphragmatic hernia |
ORPHA:380 |
Spastic Paraplegia 64, Autosomal Recessive |
|
Skeletal muscle atrophy |
OMIM:615683 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Hydrocephalus, Pachygyria |
OMIM:618174 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Hepatosplenomegaly, Lymphadenopathy, Abnormal natural killer cell physiology, Decre... |
OMIM:613101 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Axial dystonia, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Head titubation, Oromandi... |
ORPHA:300605 |
Mu-Heavy Chain Disease |
|
Splenomegaly, Increased circulating antibody level, Lymphadenopathy |
ORPHA:100024 |
Gómez-López-Hernández Syndrome |
|
Hydrocephalus |
ORPHA:1532 |
Roussy-Lévy Syndrome |
|
Skeletal muscle atrophy, Postural tremor, Intrinsic hand muscle atrophy, Distal amyotrophy, Lower... |
ORPHA:3115 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Hydrocephalus, Polymicrogyria |
ORPHA:83473 |
Myopathy, Scapulohumeroperoneal |
|
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated... |
OMIM:616852 |
Spinocerebellar Ataxia 18 |
|
Tremor, Skeletal muscle atrophy, Limb muscle weakness |
OMIM:607458 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Myositis, Absent muscle fiber merosin, Facial palsy, Flexion contracture, Astrocytosis, Macroglos... |
ORPHA:258 |
Myopathy, Centronuclear, 1 |
|
Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... |
OMIM:160150 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Impaired Ig class switch recombination, Absence of lymph node germinal center |
OMIM:608184 |
Dpm1-Cdg |
|
Ventriculomegaly, Muscular dystrophy, Camptodactyly, Knee flexion contracture |
ORPHA:79322 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Skeletal muscle atrophy, Hydrocephalus, Knee flexion contracture, Pachygyria, Polymicrogyria, Ven... |
OMIM:603387 |
Alpha-Heavy Chain Disease |
|
Splenomegaly, Dysgammaglobulinemia, Lymphadenopathy |
ORPHA:100025 |
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
|
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I... |
OMIM:117000 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Achilles tendon contracture, Macroglossia, Calf muscle hypertrophy, Shoulder girdle muscle weakne... |
OMIM:607155 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:615541 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
Autosomal Recessive Primary Microcephaly |
|
Gray matter heterotopia, Pachygyria, Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:2512 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Lymphadenopathy |
OMIM:617772 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Tremor, Skeletal muscle atrophy, Oculogyric crisis, Dystonia |
ORPHA:330050 |
L1 Syndrome |
|
Aqueductal stenosis, Skeletal muscle atrophy, Hydrocephalus |
ORPHA:275543 |
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome |
|
Skeletal muscle atrophy, Myopathy |
ORPHA:2597 |
Leber Optic Atrophy And Dystonia |
|
Skeletal muscle atrophy, Athetosis, Increased CSF lactate, Dystonia |
OMIM:500001 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Ventriculomegaly, Agyria, Type II lissencephaly, Meningoencephalocele, H... |
OMIM:236670 |
Neuropathy, Congenital Hypomyelinating, 2 |
|
Skeletal muscle atrophy, Distal amyotrophy, Facial diplegia |
OMIM:618184 |
Glutathionuria |
|
Tremor, Gray matter heterotopia, Agenesis of corpus callosum, Action tremor |
OMIM:231950 |
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile |
|
Hip contracture, Shoulder flexion contracture, Tremor, Proximal amyotrophy, Myopathy, Type 1 musc... |
OMIM:605355 |
Immunodeficiency, Common Variable, 1 |
|
Impaired T cell function, Splenomegaly, Lymphadenopathy, Decreased circulating total IgM, Decreas... |
OMIM:607594 |
Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly |
OMIM:182940 |
Rigid Spine Syndrome |
|
Hip contracture, Skeletal muscle atrophy, Elbow flexion contracture, Hamstring contractures, Myop... |
ORPHA:97244 |
Combined Oxidative Phosphorylation Deficiency 13 |
|
Choreoathetosis, Skeletal muscle atrophy, Increased CSF lactate, Dystonia |
OMIM:614932 |
Extensor Tendons Of Finger Anomalies |
|
Skeletal muscle atrophy, Camptodactyly of finger |
ORPHA:3294 |
Hydrocephalus, Congenital, X-Linked |
|
Aqueductal stenosis, Corticospinal tract hypoplasia, Hydrocephalus, Agenesis of corpus callosum |
OMIM:307000 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Skeletal muscle atrophy, Craniofacial dystonia, Plantar flexion contracture, Arthrogryposis-like ... |
OMIM:620011 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Hydrocephalus, Partial agenesis of the corpus callosum, Ventriculomegaly |
OMIM:304100 |
Symmetrical Thalamic Calcifications |
|
Abnormality of neuronal migration |
ORPHA:1314 |
Maternal Hyperthermia-Induced Birth Defects |
|
Abnormality of neuronal migration |
ORPHA:2216 |
Greig Cephalopolysyndactyly Syndrome |
|
Abnormal muscle fiber morphology, Hydrocephalus, Camptodactyly of toe, Joint contracture of the h... |
OMIM:175700 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Polymicrogyria, Ventriculomegaly |
OMIM:602501 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Skeletal muscle atrophy, Multiple joint contractures, Flexion contracture, Perisylvian polymicrog... |
OMIM:618291 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Rhabdomyolysis, Skeletal muscle atrophy, Ragged-red muscle fibers |
OMIM:617070 |
Machado-Joseph Disease Type 3 |
|
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Distal lower limb amyotrophy, Su... |
ORPHA:276244 |
Immunodeficiency 52 |
|
Splenomegaly, Lymphadenopathy, Decreased circulating antibody level |
OMIM:617514 |
Glycogen Storage Disease Ixd |
|
Skeletal muscle atrophy, Glycogen accumulation in muscle fiber lysosomes, Quadriceps muscle weakn... |
OMIM:300559 |
Hydrolethalus Syndrome 2 |
|
Agenesis of corpus callosum, Hydrocephalus, Anencephaly, Ventriculomegaly |
OMIM:614120 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Recurrent hand flapping, Self-mutilation, Aggressive behavior |
OMIM:615516 |
Follicular Lymphoma |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:545 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Skeletal muscle atrophy, Spinal muscular atrophy, Abnormal cortical gyration, Flexion contracture... |
OMIM:616867 |
Brain Small Vessel Disease 2 |
|
Subcortical heterotopia, Polymicrogyria, Ventriculomegaly |
OMIM:614483 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Generalized lymphadenopathy, Reduced natural killer cell activity, Follicular hyperplasia, Medias... |
OMIM:615559 |
Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Scapular winging, Hypoglycosylation of al... |
ORPHA:352479 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Hydrocephalus, Abnormality of neuronal migration, Holoprosencephaly, Ventriculomegaly |
ORPHA:93274 |
Amish Nemaline Myopathy |
|
Hip contracture, Shoulder flexion contracture, Tremor, Proximal amyotrophy, Type 1 muscle fiber p... |
ORPHA:98902 |
Papillary Tumor Of The Pineal Region |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251915 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly |
ORPHA:2182 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Splenomegaly, Lymphadenopathy |
ORPHA:444463 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Increased circulating IgE level, Absent tonsils, Lack of T cell function, Absence of lymph node g... |
ORPHA:277 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Hydrocephalus, Simplified gyral pattern, Gray matter heterotopia, Co... |
OMIM:615219 |
Charcot-Marie-Tooth Disease Type 1F |
|
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Distal lower limb amyotrophy, Pro... |
ORPHA:101085 |
Aase-Smith Syndrome I |
|
Death in infancy, Hydrocephalus, Flexion contracture, Dandy-Walker malformation |
OMIM:147800 |
Lethal Congenital Contracture Syndrome 7 |
|
Skeletal muscle atrophy, Facial diplegia, Distal arthrogryposis, Knee flexion contracture |
OMIM:616286 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Skeletal muscle atrophy, Axial muscle atrophy, Limb-girdle muscle weakness, Achilles tendon contr... |
ORPHA:254361 |
Immunodeficiency 27A |
|
Splenomegaly, Enlarged mesenteric lymph node, Lymphadenopathy, Increased circulating IgG level, I... |
OMIM:209950 |
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome |
|
Skeletal muscle atrophy, Spina bifida occulta |
ORPHA:2840 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... |
OMIM:620141 |
Pontocerebellar Hypoplasia Type 1 |
|
Degeneration of anterior horn cells, Skeletal muscle atrophy, Arthrogryposis multiplex congenita |
ORPHA:2254 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Tremor, Skeletal muscle atrophy |
ORPHA:101078 |
Nathalie Syndrome |
|
Skeletal muscle atrophy |
OMIM:255990 |
Oculocerebrocutaneous Syndrome |
|
Gray matter heterotopia, Orbital encephalocele, Agenesis of corpus callosum, Dandy-Walker malform... |
OMIM:164180 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Increased circulating IgE level, Lymphadenopathy |
OMIM:212050 |
Muscle-Eye-Brain Disease |
|
Myopathy, Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:588 |
Leber Congenital Amaurosis |
|
Encephalocele, Abnormality of neuronal migration |
ORPHA:65 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Partial agenesis of the corpus callosum, Simplified gyral pattern, Periventricular heterotopia |
OMIM:616171 |
Myopathy, X-Linked, With Excessive Autophagy |
|
Skeletal muscle atrophy, Flexion contracture, Proximal muscle weakness in lower limbs, Myopathy, ... |
OMIM:310440 |
Huntington Disease-Like 1 |
|
Abnormal posturing, Gliosis, Ventriculomegaly |
ORPHA:157941 |
Indolent Systemic Mastocytosis |
|
Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytosis, Abnormal m... |
ORPHA:98848 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:86893 |
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Skeletal muscle atrophy, Abnormality of the spinocerebellar tracts, Limb muscle weakness, Weaknes... |
ORPHA:329336 |
Diencephalic Syndrome |
|
Hydrocephalus |
ORPHA:1672 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Hydrocephalus, Colpocephaly, Congenital contracture, Polymicrogyria, Agenesis of corpus callosum,... |
OMIM:620156 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:618577 |
Charcot-Marie-Tooth Disease Type 1B |
|
Skeletal muscle hypertrophy, Skeletal muscle atrophy, Increased CSF protein concentration |
ORPHA:101082 |
Ataxia-Deafness-Intellectual Disability Syndrome |
|
Skeletal muscle atrophy, Ventriculomegaly |
ORPHA:1188 |
Intermediate Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Type 1 muscle fiber ... |
ORPHA:171433 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Tremor, Gliosis, Abnormality of neuronal migration, Ventriculomegaly |
OMIM:300957 |
Periventricular Nodular Heterotopia 7 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Elbow contracture, Choroid p... |
OMIM:617201 |
Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Death in infancy, Flexion contracture, Myopathy, Skeletal muscle atrophy |
ORPHA:157973 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Muscular dystrophy, Ventriculomegaly |
ORPHA:88618 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Increased CSF protein concentration, Skeletal muscle atrophy, Tremor, Flexion contracture, Limb t... |
OMIM:218000 |
Gm1-Gangliosidosis, Type Iii |
|
Skeletal muscle atrophy, Ventriculomegaly, Dystonia |
OMIM:230650 |
Edinburgh Malformation Syndrome |
|
Hydrocephalus, Abnormality of neuronal migration |
ORPHA:1895 |
Marden-Walker Syndrome |
|
Skeletal muscle atrophy, Camptodactyly of finger, Hydrocephalus, Muscular dystrophy, Arthrogrypos... |
ORPHA:2461 |
Autosomal Dominant Spastic Paraplegia Type 6 |
|
Skeletal muscle atrophy, Postural tremor |
ORPHA:100988 |
Biemond Syndrome Type 2 |
|
Hydrocephalus |
ORPHA:141333 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Spinal muscular atrophy, Camptodactyly of finger, Denervation of the diaphragm, Degeneration of a... |
OMIM:604320 |
Adams-Oliver Syndrome 2 |
|
Hydrocephalus, Polymicrogyria, Lateral ventricle dilatation, Limb hypertonia |
OMIM:614219 |
Activated Pi3K-Delta Syndrome |
|
Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, Decreased circulating antibody level, Incre... |
ORPHA:397596 |
Mitochondrial Complex I Deficiency, Nuclear Type 17 |
|
Skeletal muscle atrophy, Generalized dystonia, Dystonia |
OMIM:618239 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Decreased muscle mass, Flexion contracture, Acute infantile spinal muscular atrophy, Degeneration... |
OMIM:271225 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Centrally nucleated skeletal muscle fibers, Flexion contracture, Skeletal muscle hypertrophy, Mus... |
OMIM:613327 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Hydrocephalus |
ORPHA:1516 |
Tetrasomy 15Q26 |
|
Hydrocephalus, Syringomyelia, Dandy-Walker malformation, Camptodactyly |
OMIM:614846 |
3-Hydroxyisobutyric Aciduria |
|
Abnormality of neuronal migration |
OMIM:236795 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology |
ORPHA:97290 |
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
|
Skeletal muscle atrophy, Decreased muscle mass, Facial palsy, Arthrogryposis multiplex congenita,... |
OMIM:608931 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hydrocephalus |
OMIM:618302 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Skeletal muscle atrophy, Hip contracture, Lower limb muscle weakness, Ankle flexion contracture, ... |
ORPHA:1143 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Skeletal muscle atrophy, Facial palsy, Triceps weakness, Weakness of long finger extensor muscles... |
ORPHA:98913 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Abnormality of the anterior commissure, Hydrocephalus, Agenesis of corpus callosum |
OMIM:617542 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circulating IgA level, Ab... |
OMIM:308230 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:301013 |
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive |
|
Skeletal muscle atrophy, Foot dorsiflexor weakness |
OMIM:137200 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Absent peripheral lymph nodes in presence of infection, Abnormal immunoglobulin level, Increased ... |
ORPHA:98813 |
Congenital Toxoplasmosis |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:858 |
Charcot-Marie-Tooth Disease Type 1A |
|
Calf muscle hypertrophy, Skeletal muscle atrophy |
ORPHA:101081 |
Infantile Sialic Acid Storage Disease |
|
Hydrocephalus, Death in childhood |
OMIM:269920 |
Congenital Myopathy 20 |
|
Skeletal muscle atrophy, Scapular winging, Elbow contracture, Centrally nucleated skeletal muscle... |
OMIM:620310 |
Hogue-Janssen Syndrome 2 |
|
Agenesis of corpus callosum, Hydrocephalus, Facial hypotonia, Ventriculomegaly |
OMIM:616362 |
Central Precocious Puberty In Male |
|
Hydrocephalus |
ORPHA:649929 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hydrocephalus, Rhabdomyolysis, Abnormality of neuronal migration, Myopathy, Pachygyria, Agenesis ... |
ORPHA:157 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology |
ORPHA:319487 |
Granulomatous Slack Skin |
|
Abnormal lymph node morphology |
ORPHA:33111 |
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus, Death in infancy |
OMIM:600559 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Skeletal muscle atrophy, Lower limb muscle weakness, Degeneration of the lateral corticospinal tr... |
OMIM:604360 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hydrocephalus, Agenesis of corpus callosum, Absent extraocular muscles, Ventriculomegaly |
OMIM:109120 |
Iniencephaly |
|
Encephalocele, Spina bifida, Congenital diaphragmatic hernia, Hydrocephalus, Myelomeningocele, An... |
ORPHA:63259 |
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Peroneal muscle weakness, Hand ... |
ORPHA:101097 |
Congenital Myopathy 22A, Classic |
|
Hip contracture, Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon co... |
OMIM:620351 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
4-layered lissencephaly, Agenesis of corpus callosum, Abnormality of neuronal migration, Microlis... |
ORPHA:89844 |
Oxoglutaric Aciduria |
|
Skeletal muscle atrophy, Hydrocephalus |
ORPHA:31 |
Vacterl Association With Hydrocephalus |
|
Aqueductal stenosis, Hydrocephalus, Stillbirth |
OMIM:276950 |
Vitamin K Antagonist Embryofetopathy |
|
Macroglossia, Myelomeningocele, Hydrocephalus |
ORPHA:1914 |
Houge-Janssens Syndrome 1 |
|
Congenital muscular torticollis, Hydrocephalus, Facial hypotonia, Ventriculomegaly |
OMIM:616355 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus |
OMIM:612247 |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Skeletal muscle atrophy, Achilles tendon contracture, Type 1 muscle fiber atrophy, Elbow flexion ... |
OMIM:310300 |
Machado-Joseph Disease Type 1 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Dilated fourth ventricle, Substantia nigra... |
ORPHA:276238 |
Machado-Joseph Disease Type 2 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Dilated fourth ventricle, Substantia nigra... |
ORPHA:276241 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Dysgammaglobulinemia, Reduced natural killer cell activity, Splenomegaly, Decreased circulating a... |
OMIM:308240 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Increased variability in muscle ... |
OMIM:258450 |
Coach Syndrome 2 |
|
Hydrocephalus, Agenesis of corpus callosum |
OMIM:619111 |
Juvenile Hyaline Fibromatosis |
|
Death in infancy, Progressive flexion contractures, Skeletal muscle atrophy |
ORPHA:2028 |
6P22 Microdeletion Syndrome |
|
Hydrocephalus |
ORPHA:251046 |
Adrenal Hypoplasia, Congenital |
|
Muscular dystrophy |
OMIM:300200 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Hydrocephalus |
OMIM:300886 |
Desmosterolosis |
|
Abnormal cortical gyration, Hydrocephalus, Abnormality of neuronal migration, Macrogyria, Lissenc... |
ORPHA:35107 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy |
OMIM:619164 |
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Hydrocephalus |
OMIM:615599 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hydrocephalus |
ORPHA:2183 |
Thanatophoric Dysplasia |
|
Gray matter heterotopia, Hydrocephalus, Ventriculomegaly |
ORPHA:2655 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:397951 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Type II lissencephaly, Pachygyria, Hydrocephalus, Muscular dystrophy, Polymicrogyria, Ventriculom... |
OMIM:253280 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
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Hydrocephalus |
OMIM:616521 |
Sporadic Infantile Bilateral Striatal Necrosis |
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Resting tremor, Titubation, Dystonia, Abnormal posturing, Hypomimic face |
ORPHA:225147 |
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations |
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Simplified gyral pattern, Ventriculomegaly, Periventricular heterotopia |
OMIM:618273 |
Schnitzler Syndrome |
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Splenomegaly, Increased circulating IgM level, Lymphadenopathy |
ORPHA:37748 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
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Splenomegaly, Increased circulating IgG level, Lymphadenopathy |
OMIM:618495 |
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities |
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Skeletal muscle atrophy, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:618603 |
Triose Phosphate-Isomerase Deficiency |
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Skeletal muscle atrophy |
ORPHA:868 |
Charcot-Marie-Tooth Disease, Type 4B3 |
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Upper limb muscle weakness, Skeletal muscle atrophy, Distal lower limb muscle weakness, Lower lim... |
OMIM:615284 |
Dandy-Walker Malformation With Postaxial Polydactyly |
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Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation |
OMIM:220220 |
Central Neurocytoma |
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Hydrocephalus, Abnormal lateral ventricle morphology |
ORPHA:73256 |
Joubert Syndrome |
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Encephalocele, Tremor, Hydrocephalus, Abnormality of neuronal migration, Polymicrogyria |
ORPHA:475 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
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Skeletal muscle atrophy, Myopathy |
ORPHA:300179 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
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Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
ORPHA:163961 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
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Periventricular heterotopia, Hydrocephalus, Colpocephaly, Distal arthrogryposis, Ventriculomegaly |
OMIM:619833 |
Pallister-Hall-Like Syndrome |
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Death in infancy, Occipital encephalocele, Hydrocephalus |
OMIM:241800 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
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Abnormality of neuronal migration, Ventriculomegaly |
ORPHA:2772 |
Metatropic Dysplasia |
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Hydrocephalus, Camptodactyly of finger |
ORPHA:2635 |
Charcot-Marie-Tooth Disease, Type 4K |
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Skeletal muscle atrophy, Dystonia |
OMIM:616684 |
Myopathy, Centronuclear, X-Linked |
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Facial palsy, Hydrocephalus, Flexion contracture, Diaphragmatic eventration, Dandy-Walker malform... |
OMIM:310400 |
Charcot-Marie-Tooth Disease, Dominant Intermediate A |
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Skeletal muscle atrophy, Limb muscle weakness |
OMIM:620378 |
Diabetic Embryopathy |
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Hydrocephalus, Aplasia/Hypoplasia of the abdominal wall musculature, Spinal dysraphism |
ORPHA:1926 |
Mosaic Variegated Aneuploidy Syndrome |
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Rhabdomyosarcoma, Holoprosencephaly, Muscular dystrophy, Dandy-Walker malformation, Ventriculomegaly |
ORPHA:1052 |
Combined Oxidative Phosphorylation Deficiency 24 |
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Skeletal muscle atrophy, Ragged-red muscle fibers, Increased CSF lactate, Myopathy, Gliosis, Weak... |
OMIM:616239 |
Generalized Eruptive Histiocytosis |
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Lymphadenopathy |
ORPHA:157991 |
Alexander Disease Type I |
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Hydrocephalus |
ORPHA:363717 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
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Skeletal muscle atrophy, Distal amyotrophy, Limb muscle weakness, Intrinsic hand muscle atrophy |
OMIM:614895 |
Myopathy, Myofibrillar, 7 |
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Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Facial palsy, Shoul... |
OMIM:617114 |
Aminopterin/Methotrexate Embryofetopathy |
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Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly |
ORPHA:1908 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
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Skeletal muscle atrophy, Tremor, Athetosis, Generalized amyotrophy, Dystonia, Ventriculomegaly, L... |
OMIM:617710 |
Oculocerebrocutaneous Syndrome |
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Ventriculomegaly, Congenital diaphragmatic hernia, Hydrocephalus, Polymicrogyria, Dandy-Walker ma... |
ORPHA:1647 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
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Abnormality of neuronal migration |
ORPHA:2204 |
Spinocerebellar Ataxia Type 18 |
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Skeletal muscle atrophy, Head tremor, Titubation |
ORPHA:98771 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
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Death in infancy, Skeletal muscle atrophy, Increased CSF lactate, Death in childhood, Neonatal death |
OMIM:245400 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
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Hand muscle atrophy, Skeletal muscle atrophy |
ORPHA:99944 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
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Skeletal muscle atrophy, Foot joint contracture, Dystonia |
ORPHA:457205 |
Czeizel-Losonci Syndrome |
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Posterolateral diaphragmatic hernia, Spina bifida, Myelomeningocele, Hydrocephalus, Aplasia of th... |
ORPHA:2437 |
Joubert Syndrome With Renal Defect |
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Encephalocele, Tremor, Hydrocephalus, Polymicrogyria, Agenesis of corpus callosum |
ORPHA:220497 |
Kearns-Sayre Syndrome |
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Skeletal muscle atrophy, Ragged-red muscle fibers |
ORPHA:480 |
Burkitt Lymphoma |
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Abnormality of the spleen, Abnormal lymph node morphology |
ORPHA:543 |
Krabbe Disease |
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Hydrocephalus, Increased CSF protein concentration |
OMIM:245200 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
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Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Myopathy, Muscle f... |
OMIM:615422 |
Craniofacial Dyssynostosis With Short Stature |
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Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:218350 |
Alkuraya-Kucinskas Syndrome |
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Hydrocephalus, Gray matter heterotopia, Lissencephaly, Camptodactyly, Arthrogryposis multiplex co... |
OMIM:617822 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
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Skeletal muscle atrophy, Myopathy, Spinal muscular atrophy, Weakness of facial musculature |
ORPHA:254875 |
Amyotrophic Lateral Sclerosis |
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Motor neuron atrophy, Skeletal muscle atrophy, Amyotrophic lateral sclerosis |
ORPHA:803 |
Hydrocephalus, Congenital, 4 |
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Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
Holoprosencephaly 14 |
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Ventriculomegaly, Alobar holoprosencephaly, Aqueductal stenosis, Periventricular heterotopia, Hyd... |
OMIM:619895 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
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Splenomegaly, Lymphadenopathy, Decreased circulating antibody level, Decreased circulating total ... |
OMIM:616100 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
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Left ventricular hypertrophy, Skeletal muscle atrophy, Ventriculomegaly |
OMIM:618228 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
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Abnormal posturing, Generalized dystonia, Opisthotonus |
ORPHA:216866 |
Intellectual Developmental Disorder, X-Linked 30 |
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Hydrocephalus |
OMIM:300558 |
Nasu-Hakola Disease |
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Hydrocephalus, Ventriculomegaly |
ORPHA:2770 |
Joubert Syndrome 30 |
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Gray matter heterotopia, Dandy-Walker malformation, Ventriculomegaly |
OMIM:617622 |
Spastic Paraplegia 76, Autosomal Recessive |
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Skeletal muscle atrophy, Lower limb muscle weakness |
OMIM:616907 |
Tularemia |
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Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy, Mediastinal lymphadenopathy... |
ORPHA:3392 |
Fish-Eye Disease |
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Splenomegaly, Lymphadenopathy |
ORPHA:79292 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
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Gray matter heterotopia, Camptodactyly, Knee flexion contracture |
OMIM:619694 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
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Hydrocephalus, Lissencephaly, Dandy-Walker malformation, Death in childhood |
OMIM:612938 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
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Tremor, Skeletal muscle atrophy |
OMIM:616719 |
Hydrocephalus, Congenital, 5, Susceptibility To |
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Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
Spastic Paraplegia 39, Autosomal Recessive |
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Atrophy of the spinal cord, Distal amyotrophy, Distal lower limb muscle weakness |
OMIM:612020 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
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Hydrocephalus, Flexion contracture |
OMIM:613330 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
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Chronic noninfectious lymphadenopathy, Increased circulating IgA level, Follicular hyperplasia, S... |
OMIM:603909 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
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Torticollis, Partial agenesis of the corpus callosum, Simplified gyral pattern, Congenital fibros... |
ORPHA:300570 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
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Skeletal muscle atrophy, Spina bifida occulta |
ORPHA:230839 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
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Periventricular heterotopia, Corticospinal tract hypoplasia, Pachygyria, Agenesis of corpus callo... |
ORPHA:255138 |
Sialidosis Type 2 |
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Tremor, Skeletal muscle atrophy, Flexion contracture |
ORPHA:87876 |
Thanatophoric Dysplasia, Type I |
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Neonatal death, Gray matter heterotopia, Hydrocephalus |
OMIM:187600 |
Pontocerebellar Hypoplasia, Type 7 |
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Skeletal muscle atrophy, Hydrocephalus, Opisthotonus, Choreoathetosis, Ventriculomegaly |
OMIM:614969 |
Riboflavin Transporter Deficiency |
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Tremor, Skeletal muscle atrophy, Limb muscle weakness, Facial palsy |
ORPHA:97229 |
Galloway-Mowat Syndrome |
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Aqueductal stenosis, Pachygyria, Camptodactyly of finger, Abnormality of neuronal migration |
ORPHA:2065 |
Fanconi Anemia, Complementation Group R |
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Hydrocephalus, Tethered cord |
OMIM:617244 |
Congenital Disorder Of Glycosylation, Type Iil |
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Death in infancy, Hydrocephalus, Abnormal cortical gyration, Ventriculomegaly |
OMIM:614576 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
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Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Proximal mus... |
OMIM:620138 |
Temple Syndrome |
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Hydrocephalus, Flexion contracture |
OMIM:616222 |
Bresek Syndrome |
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Neonatal death, Hydrocephalus |
ORPHA:85284 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
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Skeletal muscle atrophy |
OMIM:183050 |
Pfapa Syndrome |
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Splenomegaly, Lymphadenopathy |
ORPHA:42642 |
Spinocerebellar Ataxia Type 3 |
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Skeletal muscle atrophy, Dystonia |
ORPHA:98757 |
Periventricular Nodular Heterotopia 1 |
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Gray matter heterotopia, Abnormality of neuronal migration |
OMIM:300049 |
Arachnoid Cyst |
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Encephalocele, Enlarged fossa interpeduncularis, Facial palsy, Spinal cord compression, Spinal ar... |
ORPHA:2356 |
Joubert Syndrome With Ocular Defect |
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Encephalocele, Tremor, Hydrocephalus, Polymicrogyria, Agenesis of corpus callosum |
ORPHA:220493 |
Optic Pathway Glioma |
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Hydrocephalus |
ORPHA:2086 |
Lhermitte-Duclos Disease |
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Macroglossia, Hydrocephalus, Polymicrogyria |
ORPHA:65285 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
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Hydrocephalus |
ORPHA:2181 |
3C Syndrome |
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Death in infancy, Hydrocephalus, Abnormality of neuronal migration, Dandy-Walker malformation, Ve... |
ORPHA:7 |
Pettigrew Syndrome |
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Ventriculomegaly, Aqueductal stenosis, Hydrocephalus, Flexion contracture, Choreoathetosis, Dandy... |
OMIM:304340 |
Neurodegeneration With Brain Iron Accumulation 4 |
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Abnormal lower motor neuron morphology, Scapular winging, Generalized dystonia, Tremor, Distal am... |
OMIM:614298 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
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Muscular dystrophy |
ORPHA:300751 |
Ventriculomegaly With Cystic Kidney Disease |
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Gray matter heterotopia, Hydrocephalus, Ventriculomegaly |
OMIM:219730 |
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 |
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Calf muscle hypertrophy, Skeletal muscle atrophy, Myositis, Proximal muscle weakness in lower limbs |
ORPHA:565899 |
Temple Syndrome |
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Hydrocephalus |
ORPHA:254516 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
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Hydrocephalus |
ORPHA:171839 |
Cleft Palate-Large Ears-Small Head Syndrome |
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Skeletal muscle atrophy |
ORPHA:2013 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
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Hydrocephalus, Polymicrogyria, Ventriculomegaly |
ORPHA:60040 |
Japanese Encephalitis |
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Hyperintensity of MRI T2 signal of the spinal cord, Skeletal muscle atrophy, Facial palsy, Paucit... |
ORPHA:79139 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
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Encephalocele, Abnormal cortical gyration, Exencephaly, Abnormality of neuronal migration, Macrog... |
ORPHA:2211 |
Glutaric Acidemia I |
|
Hydrocephalus, Opisthotonus, Choreoathetosis, Lateral ventricle dilatation, Dystonia |
OMIM:231670 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
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Hydrocephalus |
ORPHA:2701 |
Posterior Column Ataxia With Retinitis Pigmentosa |
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Hyperintensity of MRI T2 signal of the spinal cord, Skeletal muscle atrophy, Joint contracture of... |
OMIM:609033 |
Congenital Myopathy 19 |
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Skeletal muscle atrophy, Congenital contracture, Facial hypotonia |
OMIM:618578 |
Lateral Meningocele Syndrome |
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Decreased muscle mass, Tethered cord, Hydrocephalus, Meningocele, Dural ectasia, Syringomyelia |
OMIM:130720 |
Poretti-Boltshauser Syndrome |
|
Dilated fourth ventricle, Gray matter heterotopia |
OMIM:615960 |
Pontocerebellar Hypoplasia, Type 16 |
|
Skeletal muscle atrophy, Ventriculomegaly, Limb hypertonia |
OMIM:619527 |
Papilloma Of Choroid Plexus |
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Choroid plexus papilloma, Hydrocephalus |
OMIM:260500 |
Lymphoproliferative Syndrome 2 |
|
Splenomegaly, Hepatosplenomegaly, Lymphadenopathy, Decreased circulating antibody level |
OMIM:615122 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Agenesis of corpus callosum, Facial hypotonia, Noncommunicating hydrocephalus |
OMIM:619320 |
16P13.11 Microdeletion Syndrome |
|
Camptodactyly of finger, Abnormality of neuronal migration, Holoprosencephaly, Agenesis of corpus... |
ORPHA:261236 |
Amyotrophic Dystonic Paraplegia |
|
Skeletal muscle atrophy, Dystonia |
OMIM:105300 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Increased CSF lac... |
OMIM:615418 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Periventricular heterotopia, Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosu... |
OMIM:618476 |
Trisomy 1Q |
|
Camptodactyly of finger, Congenital diaphragmatic hernia, Hydrocephalus, Agenesis of corpus callo... |
ORPHA:261344 |
Radial Aplasia, X-Linked |
|
Hydrocephalus |
OMIM:312190 |
Emanuel Syndrome |
|
Torticollis, Ventriculomegaly, Congenital diaphragmatic hernia, Hydrocephalus, Joint contracture,... |
OMIM:609029 |
Hydrocephalus, Normal-Pressure, 1 |
|
Normal pressure hydrocephalus |
OMIM:236690 |
Developmental And Epileptic Encephalopathy 49 |
|
Ventriculomegaly, Exaggerated startle response, Dysplastic corpus callosum, Hydrocephalus, Dandy-... |
OMIM:617281 |
Focal Facial Dermal Dysplasia Type Iv |
|
Hydrocephalus |
ORPHA:398189 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Ventriculomegaly, Periventricular heterotopia |
OMIM:618974 |
Isolated Posterior Meningocele |
|
Tethered cord, Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Hydromyelia,... |
ORPHA:268810 |
Boutonneuse Fever |
|
Increased circulating IgG level, Cervical lymphadenopathy, Increased circulating IgM level, Lymph... |
ORPHA:83313 |
Papa Syndrome |
|
Increased circulating antibody level, Lymphadenopathy |
ORPHA:69126 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Hydrocephalus |
OMIM:601794 |
Autosomal Recessive Spastic Paraplegia Type 26 |
|
Skeletal muscle atrophy, Dystonia |
ORPHA:101006 |
Triploidy |
|
Macroglossia, Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:3376 |
Mycosis Fungoides |
|
Lymphadenopathy |
OMIM:254400 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hydrocephalus |
ORPHA:93262 |
Duchenne Muscular Dystrophy |
|
Calf muscle hypertrophy, Skeletal muscle atrophy, Flexion contracture |
ORPHA:98896 |
Trisomy 17P |
|
Macroglossia, Skeletal muscle atrophy, Hydrocephalus, Flexion contracture |
ORPHA:261290 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:602200 |
Classic Hodgkin Lymphoma |
|
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:391 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Hydrocephalus, Decreased muscle mass, Agenesis of corpus callosum |
OMIM:612940 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Splenomegaly, Abnormal lymph node morphology, Hepatosplenomegaly |
OMIM:612840 |
Williams-Beuren Region Duplication Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:609757 |
Nephronophthisis 18 |
|
Hydrocephalus |
OMIM:615862 |
Albers-Schönberg Osteopetrosis |
|
Hydrocephalus, Facial palsy |
ORPHA:53 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased circulating IgG level, Abnormal circulating IgM level, Lymphadenopathy, Increased circu... |
OMIM:618048 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Death in infancy, Elbow flexion contracture, Increased muscle lipid content, Abnormality of neuro... |
OMIM:608836 |
Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Hydrocephalus, Abnormality of neuronal migration |
ORPHA:2318 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Skeletal muscle atrophy, Flexion contracture, Abnormal muscle glycogen content, Myopathy, Abnorma... |
ORPHA:367 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation, Camptodactyly |
ORPHA:459061 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Abnormal posturing |
OMIM:614857 |
Myopathy Due To Myoadenylate Deaminase Deficiency |
|
Skeletal muscle atrophy, Rhabdomyolysis, Myopathy |
OMIM:615511 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615630 |
Congenital Disorder Of Deglycosylation 2 |
|
Partial agenesis of the corpus callosum, Gray matter heterotopia, Macroglossia, Polymicrogyria, V... |
OMIM:619775 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Atrophy of the spinal cord, Hydrocephalus, Lower limb muscle weakness, Ventriculomegaly |
ORPHA:395 |
Distal Triplication 15Q |
|
Hydrocephalus, Flexion contracture, Syringomyelia, Camptodactyly, Dandy-Walker malformation |
ORPHA:314588 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:85327 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hydrocephalus, Abnormality of neuronal migration, Pachygyria, Agenesis of corpus callosum, Polymi... |
ORPHA:228308 |
X-Linked Intellectual Disability, Miles-Carpenter Type |
|
Skeletal muscle atrophy |
ORPHA:85283 |
Pontocerebellar Hypoplasia, Type 11 |
|
Skeletal muscle atrophy, Agenesis of corpus callosum |
OMIM:617695 |
Isolated Succinate-Coq Reductase Deficiency |
|
Skeletal muscle atrophy, Knee flexion contracture, Distal amyotrophy, Skeletal myopathy, Lower li... |
ORPHA:3208 |
Spinocerebellar Ataxia 1 |
|
Dilated fourth ventricle, Skeletal muscle atrophy, Dorsal column degeneration, Distal amyotrophy,... |
OMIM:164400 |
Hypomelanosis Of Ito |
|
Gray matter heterotopia |
OMIM:300337 |
Sandhoff Disease, Juvenile Form |
|
Skeletal muscle atrophy, Limb joint contracture |
ORPHA:309162 |
Thanatophoric Dysplasia Type 1 |
|
Gray matter heterotopia, Hydrocephalus, Ventriculomegaly |
ORPHA:1860 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Splenomegaly, Lymphadenopathy |
OMIM:611762 |
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome |
|
Skeletal muscle atrophy |
ORPHA:477814 |
Mucopolysaccharidosis, Type Ii |
|
Macroglossia, Hydrocephalus, Flexion contracture, Cervical cord compression |
OMIM:309900 |
Crouzon Syndrome |
|
Hydrocephalus |
ORPHA:207 |
Spinocerebellar Ataxia Type 1 |
|
Skeletal muscle atrophy, Dystonia, Postural tremor, Abnormality of masticatory muscle |
ORPHA:98755 |
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Increased muscle glycogen content, Skeletal muscle atrophy |
ORPHA:371 |
Emanuel Syndrome |
|
Ventriculomegaly, Multiple joint contractures, Congenital diaphragmatic hernia, Hydrocephalus, Ag... |
ORPHA:96170 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Death in infancy, Hydrocephalus |
ORPHA:163966 |
B4Galt1-Cdg |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:79332 |
Immune-Mediated Necrotizing Myopathy |
|
Skeletal muscle atrophy, Scapular winging, Myositis, Proximal muscle weakness in lower limbs, Myo... |
ORPHA:206569 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Dandy-Walker malformation |
OMIM:611134 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Skeletal muscle atrophy, Joint contracture |
OMIM:615419 |
Immunodeficiency 97 With Autoinflammation |
|
Mediastinal lymphadenopathy, Splenomegaly, Decreased circulating antibody level, Hepatosplenomega... |
OMIM:619802 |
Methylcobalamin Deficiency Type Cble |
|
Hydrocephalus, Lower limb hypertonia, Ventriculomegaly |
ORPHA:2169 |
Deafness-Vitiligo-Achalasia Syndrome |
|
Skeletal muscle atrophy |
ORPHA:3239 |
Amelocerebrohypohidrotic Syndrome |
|
Hydrocephalus |
ORPHA:1946 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Increased circulating IgA level, Increased circulating IgE level, Hepatosplenomegaly, Lymphadenop... |
ORPHA:169154 |
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies |
|
Skeletal muscle atrophy, Joint contracture |
OMIM:617481 |
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Skeletal muscle atrophy, Opisthotonus |
OMIM:616896 |
Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation |
OMIM:607361 |
Hyperkalemic Periodic Paralysis |
|
Death in infancy, Death in early adulthood, Skeletal muscle atrophy, Flexion contracture, Skeleta... |
ORPHA:682 |
Hydrolethalus |
|
Agenesis of corpus callosum, Hydrocephalus, Anencephaly |
ORPHA:2189 |
Sandifer Syndrome |
|
Torticollis, Abnormal posturing |
ORPHA:71272 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Tremor, Skeletal muscle atrophy |
OMIM:615578 |
Large Congenital Melanocytic Nevus |
|
Hydrocephalus, Rhabdomyosarcoma |
ORPHA:626 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Skeletal muscle atrophy |
ORPHA:2400 |
Leishmaniasis |
|
Splenomegaly, Increased circulating antibody level, Lymphadenopathy |
ORPHA:507 |
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Skeletal muscle atrophy, Increased CSF lactate, Facial diplegia, Athetosis, Dystonia |
OMIM:612073 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Scapular winging, Lateral ventricular asymmetry, Hydrocephalus, Dural ectasia |
OMIM:616914 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Hydrocephalus |
ORPHA:2180 |
Ataxia-Telangiectasia |
|
Tremor, Skeletal muscle atrophy |
ORPHA:100 |
1Q44 Microdeletion Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:238769 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Left ventricular hypertrophy, Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate |
ORPHA:90065 |
Pseudomyxoma Peritonei |
|
Lymphadenopathy |
ORPHA:26790 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Tethered cord, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Hy... |
OMIM:600145 |
Allan-Herndon-Dudley Syndrome |
|
Skeletal muscle atrophy, Flexion contracture, Choreoathetosis, Dystonia, Limb hypertonia |
ORPHA:59 |
Sézary Syndrome |
|
Splenomegaly, Lymphadenopathy, Abnormal immunoglobulin level |
ORPHA:3162 |
Hb Bart'S Hydrops Fetalis |
|
Hydrocephalus |
ORPHA:163596 |
Chromosome 17P13.1 Deletion Syndrome |
|
Spina bifida, Hydrocephalus, Elbow flexion contracture, Knee flexion contracture, Generalized amy... |
OMIM:613776 |
Tetrasomy 18P |
|
Abnormality of neuronal migration |
ORPHA:3307 |
Pagod Syndrome |
|
Encephalocele, Death in infancy, Congenital diaphragmatic hernia, Spina bifida, Meningocele, Abno... |
ORPHA:991 |
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Skeletal muscle atrophy, Limb muscle weakness, Increased CSF protein concentration |
OMIM:612300 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Lymphadenopathy, Hepatosplenomegaly, Impaired... |
OMIM:618935 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly |
ORPHA:77298 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Lower limb muscle weakness |
OMIM:616479 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Skeletal muscle atrophy, Increased CSF lactate, Ventriculomegaly, Opisthotonus |
OMIM:619272 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Skeletal muscle atrophy, Scapular winging, Rhabdomyolysis, Gray matter heterotopia, Gliosis, Incr... |
ORPHA:26791 |
Coffin-Lowry Syndrome |
|
Death in early adulthood, Ventriculomegaly, Abnormality of neuronal migration, Skeletal muscle at... |
ORPHA:192 |
Severe Congenital Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Type 1 muscle fiber ... |
ORPHA:171430 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Abnormality of neuronal migration, Abnormal neuron morphology |
ORPHA:163681 |
Ritscher-Schinzel Syndrome 1 |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:220210 |
Pelvis-Shoulder Dysplasia |
|
Hydranencephaly, Hydrocephalus, Camptodactyly of finger, Spina bifida |
ORPHA:2839 |
Ataxia With Vitamin E Deficiency |
|
Tremor, Skeletal muscle atrophy, Dystonia |
ORPHA:96 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Flexion contracture, Muscular dystrophy |
ORPHA:158684 |
Neonatal Adrenoleukodystrophy |
|
Abnormality of neuronal migration |
ORPHA:44 |
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia |
|
Skeletal muscle atrophy |
OMIM:254950 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Skeletal muscle atrophy, Hand tremor |
OMIM:162400 |
Stromme Syndrome |
|
Myopathy, Hydrocephalus, Stillbirth, Agenesis of corpus callosum |
OMIM:243605 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Hydrocephalus, Flexion contracture, Miscarriage |
ORPHA:1865 |
Arachnoiditis |
|
Hydrocephalus |
ORPHA:137817 |
Developmental And Epileptic Encephalopathy 51 |
|
Skeletal muscle atrophy, Increased CSF lactate, Dystonia |
OMIM:617339 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Hydrocephalus, Holoprosencephaly, Polymicrogyria, Agenesis of corpus callosum |
OMIM:264480 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Lateral ventricle dilatation, Periventricular heterotopia, Dystonia |
OMIM:614105 |
Gorlin Syndrome |
|
Hydrocephalus |
ORPHA:377 |
Tenorio Syndrome |
|
Macroglossia, Hydrocephalus, Ventriculomegaly |
OMIM:616260 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Death in infancy, Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Increased e... |
OMIM:620278 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation |
OMIM:612582 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hydrocephalus |
OMIM:620157 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Splenomegaly, Lymphadenopathy |
OMIM:150550 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Tremor, Skeletal muscle atrophy, Resting tremor, Dystonia |
OMIM:615157 |
Lymphoproliferative Syndrome 1 |
|
Splenomegaly, Decreased circulating IgG level, Lymphadenopathy, Decreased circulating antibody level |
OMIM:613011 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Skeletal muscle atrophy, Ventriculomegaly |
ORPHA:1933 |
Marinesco-Sjogren Syndrome |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Flexion contracture, Myopath... |
OMIM:248800 |
Joubert Syndrome With Hepatic Defect |
|
Tremor, Occipital encephalocele, Hydrocephalus, Abnormality of neuronal migration |
ORPHA:1454 |
Cerebral Palsy, Spastic Quadriplegic, 3 |
|
Gray matter heterotopia |
OMIM:617008 |
Peho Syndrome |
|
Arthrogryposis multiplex congenita, Hydrocephalus, Flexion contracture, Ventriculomegaly |
ORPHA:2836 |
9Q21.13 Microdeletion Syndrome |
|
Gray matter heterotopia, Syringomyelia |
ORPHA:531151 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Communicating hydrocephalus, Limb dystonia, Tremor, Athetosis, Subependymal nodules, Dystonia, Ve... |
ORPHA:25 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Congenital diaphragmatic hernia, Hydrocephalus, Anencephaly, Occipital meningocele, Polymicrogyri... |
OMIM:616546 |
Pseudo-Torch Syndrome 2 |
|
Gray matter heterotopia, Lateral ventricle dilatation, Polymicrogyria, Ventriculomegaly |
OMIM:617397 |
Holoprosencephaly |
|
Encephalocele, Congenital diaphragmatic hernia, Hydrocephalus, Spinal cord tumor, Abnormality of ... |
ORPHA:2162 |
Tay-Sachs Disease |
|
Skeletal muscle atrophy, Exaggerated startle response, Lower limb muscle weakness, Quadriceps mus... |
ORPHA:845 |
Medulloblastoma |
|
Hydrocephalus, Spinal cord tumor, Intention tremor |
ORPHA:616 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Skeletal muscle atrophy, Resting tremor, Facial palsy, Ragged-red muscle fibers, Rhabdomyolysis, ... |
OMIM:157640 |
Cold Agglutinin Disease |
|
Splenomegaly, Lymphadenopathy |
ORPHA:56425 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Skeletal muscle atrophy |
ORPHA:970 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Splenomegaly, Lymphadenopathy, Decreased circulating antibody level, Decreased circulating total ... |
ORPHA:436159 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Hydrocephalus |
OMIM:300863 |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Skeletal muscle atrophy, Joint contracture |
OMIM:615704 |
Osteopetrosis, Autosomal Recessive 2 |
|
Hydrocephalus, Facial paralysis |
OMIM:259710 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Abnormality of neuronal migration, Congenital diaphragmatic hernia |
ORPHA:2063 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Neonatal death, Hydrocephalus |
OMIM:314390 |
Spinocerebellar Ataxia Type 36 |
|
Intention tremor, Skeletal muscle atrophy, Hand tremor, Head tremor |
ORPHA:276198 |
Glycerol Kinase Deficiency |
|
Myopathy, Muscular dystrophy |
OMIM:307030 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Frontal polymicrogyria, Gray matter heterotopia, Dystonia, Neonatal death, Pachygyria, Ventriculo... |
OMIM:620024 |
Axial Mesodermal Dysplasia Spectrum |
|
Hydrocephalus, Congenital diaphragmatic hernia |
ORPHA:1834 |
Vici Syndrome |
|
Myopathy, Gray matter heterotopia, Left ventricular hypertrophy, Abnormal posturing, Agenesis of ... |
OMIM:242840 |
Griscelli Syndrome |
|
Lymphadenopathy, Splenomegaly, Bone marrow hypocellularity, Decreased circulating antibody level |
ORPHA:381 |
Lowry-Maclean Syndrome |
|
Hydrocephalus, Congenital diaphragmatic hernia |
ORPHA:2409 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Encephalocele, Hydrocephalus, Joint contracture of the hand, Camptodactyly |
OMIM:224400 |
Muenke Syndrome |
|
Hydrocephalus |
ORPHA:53271 |
Genitopalatocardiac Syndrome |
|
Hydrocephalus, Congenital diaphragmatic hernia |
ORPHA:2075 |
Choreoacanthocytosis |
|
Skeletal muscle atrophy, Limb muscle weakness, Progressive choreoathetosis, Dystonia |
OMIM:200150 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly |
OMIM:614195 |
Heme Oxygenase 1 Deficiency |
|
Asplenia, Cervical lymphadenopathy, Lymphadenopathy |
OMIM:614034 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Skeletal muscle atrophy |
OMIM:616828 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Splenomegaly, Lymphadenopathy |
OMIM:619375 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hydrocephalus, Facial paralysis, Facial palsy |
OMIM:259700 |
Radio-Tartaglia Syndrome |
|
Tremor, Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:619312 |
Joubert Syndrome 14 |
|
Encephalocele, Hydrocephalus, Meningocele, Dandy-Walker malformation |
OMIM:614424 |
Pontocerebellar Hypoplasia, Type 1B |
|
Skeletal muscle atrophy, Flexion contracture |
OMIM:614678 |
Gracile Bone Dysplasia |
|
Death in infancy, Hydrocephalus |
OMIM:602361 |
Vici Syndrome |
|
Gray matter heterotopia, Death in infancy, Agenesis of corpus callosum |
ORPHA:1493 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Cutaneous anergy, Panhypogammaglobulinemia, Absent peripheral lymph nodes in presence of infectio... |
OMIM:600802 |
Camurati-Engelmann Disease, Type 2 |
|
Hip contracture, Skeletal muscle atrophy, Knee flexion contracture |
OMIM:606631 |
Schwartz-Jampel Syndrome, Type 1 |
|
Hip contracture, Skeletal muscle atrophy, Shoulder flexion contracture, Quadriceps muscle weaknes... |
OMIM:255800 |
12Q14 Microdeletion Syndrome |
|
Tremor, Skeletal muscle atrophy, Syringomyelia |
ORPHA:94063 |
Fanconi Anemia, Complementation Group B |
|
Death in infancy, Hydrocephalus, Ventriculomegaly |
OMIM:300514 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Lateral ventricle dilatation |
OMIM:612863 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 2 |
|
Skeletal muscle atrophy |
OMIM:619759 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Myelomeningocele, Spina bifida occulta, Hydrocephalus |
OMIM:613686 |
15Q Overgrowth Syndrome |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Hydrocephalus, Syringomyelia... |
ORPHA:314585 |
Kennedy Disease |
|
Skeletal muscle atrophy |
ORPHA:481 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Dilated third ventricle, Hydrocephalus, Flexion contracture, Ventriculomegaly |
ORPHA:500055 |
Neuromuscular Oculoauditory Syndrome |
|
Periventricular heterotopia, Knee flexion contracture, Calf muscle hypertrophy, Agenesis of corpu... |
OMIM:618733 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Multiple joint contractures, Camptodactyly of finger, Ankle flexion contracture, Periventricular ... |
ORPHA:468631 |
Amyotrophy, Hereditary Neuralgic |
|
Skeletal muscle atrophy |
OMIM:162100 |
Tetrasomy 5P |
|
Hydrocephalus, Aplasia/Hypoplasia of the abdominal wall musculature |
ORPHA:3309 |
Desmosterolosis |
|
Hydrocephalus, Partial agenesis of the corpus callosum, Arthrogryposis multiplex congenita, Joint... |
OMIM:602398 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Skeletal muscle atrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Ragged-red... |
OMIM:607459 |
Thyrocerebroretinal Syndrome |
|
Skeletal muscle atrophy |
OMIM:274240 |
Renpenning Syndrome |
|
Skeletal muscle atrophy |
ORPHA:3242 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Splenomegaly, Decreased circulating IgG level, Bone marrow hypocellularity, Lymphadenopathy |
OMIM:301078 |
Endocrine-Cerebroosteodysplasia |
|
Focal polymicrogyria, Hydrocephalus, Holoprosencephaly, Agenesis of corpus callosum, Ventriculome... |
OMIM:612651 |
Alg11-Cdg |
|
Gray matter heterotopia, Opisthotonus, Limb hypertonia |
ORPHA:280071 |
Cole-Carpenter Syndrome 1 |
|
Communicating hydrocephalus, Hydrocephalus |
OMIM:112240 |
Dural Sinus Malformation |
|
Myelopathy, Hydrocephalus |
ORPHA:97339 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:1812 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Splenomegaly, Lymphadenopathy |
ORPHA:85414 |
Isotretinoin Embryopathy-Like Syndrome |
|
Hydrocephalus |
OMIM:243440 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Increased muscle glycogen content, Skeletal muscle atrophy, Rhabdomyolysis, Glycogen accumulation... |
ORPHA:368 |
Immunodeficiency 7 |
|
Splenomegaly, Lymphadenopathy |
OMIM:615387 |
Man1B1-Cdg |
|
Resting tremor, Periventricular heterotopia |
ORPHA:397941 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Abnormality of the lymphatic system, Abnormal lymph node morphology |
ORPHA:54251 |
Primary Ciliary Dyskinesia |
|
Hydrocephalus, Abnormal sperm motility, Ventriculomegaly |
ORPHA:244 |
Multiple Sulfatase Deficiency |
|
Hydrocephalus, Increased CSF protein concentration, Ventriculomegaly |
OMIM:272200 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Skeletal muscle atrophy, Distal arthrogryposis, Myopathy |
ORPHA:42 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphadenitis, Abnormal lymph node morphology, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:911 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Tremor, Skeletal muscle atrophy, Foot dorsiflexor weakness |
OMIM:616586 |
Myotonia, Potassium-Aggravated |
|
Skeletal muscle hypertrophy, Skeletal muscle atrophy |
OMIM:608390 |
Opitz-Kaveggia Syndrome |
|
Multiple joint contractures, Hydrocephalus, Partial agenesis of the corpus callosum, Gray matter ... |
OMIM:305450 |
Basal Cell Nevus Syndrome 2 |
|
Hydrocephalus |
OMIM:620343 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Increased circulating IgE level, Decreased specific anti-polysaccharide antibody level, Enlarged ... |
OMIM:606367 |
Deafness, X-Linked 5, With Peripheral Neuropathy |
|
Skeletal muscle atrophy |
OMIM:300614 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Hydrocephalus, Choroid plexus cyst, Ventriculomegaly |
OMIM:617866 |
Aicardi Syndrome |
|
Spina bifida, Pachygyria, Partial agenesis of the corpus callosum, Choroid plexus cyst, Gray matt... |
OMIM:304050 |
Autosomal Recessive Spastic Paraplegia Type 78 |
|
Skeletal muscle atrophy, Dystonia, Facial myokymia |
ORPHA:513436 |
Osteopetrosis, Autosomal Recessive 5 |
|
Facial palsy, Hydrocephalus, Stillbirth, Ventriculomegaly, Limb hypertonia |
OMIM:259720 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Hip contracture, Death in infancy, Shoulder flexion contracture, Abnormal cortical gyration, Hydr... |
OMIM:210710 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Scapular winging, Ventriculomegaly, Periventricular heterotopia |
OMIM:618870 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Skeletal muscle atrophy, Limb joint contracture |
OMIM:612079 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Neonatal death, Hydrocephalus |
OMIM:616482 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Hydrocephalus, Camptodactyly of finger |
OMIM:619951 |
Alexander Disease |
|
Facial palsy, Aqueductal stenosis, Tremor, Hydrocephalus, Agenesis of corpus callosum |
ORPHA:58 |
Melorheostosis |
|
Skeletal muscle atrophy |
ORPHA:2485 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Neonatal death, Gray matter heterotopia, Polymicrogyria |
OMIM:614887 |
Pentalogy Of Cantrell |
|
Encephalocele, Hydrocephalus, Anencephaly, Congenital diaphragmatic hernia |
ORPHA:1335 |
Fg Syndrome Type 1 |
|
Hydrocephalus, Progressive flexion contractures, Ventriculomegaly |
ORPHA:93932 |
Cog8-Cdg |
|
Skeletal muscle atrophy, Ventriculomegaly |
ORPHA:95428 |
Icf Syndrome |
|
Communicating hydrocephalus, Macroglossia |
ORPHA:2268 |
Sandhoff Disease |
|
Macroglossia, Skeletal muscle atrophy, Exaggerated startle response, Death in childhood |
OMIM:268800 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Generalized lymphadenopathy, Splenomegaly, Lymphadenopathy, Decreased circulating total IgM, Decr... |
OMIM:614700 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Athetosis, Hydrocephalus |
OMIM:239300 |
Van Maldergem Syndrome 1 |
|
Subcortical band heterotopia, Simplified gyral pattern, Gray matter heterotopia, Camptodactyly, P... |
OMIM:601390 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Communicating hydrocephalus |
ORPHA:1861 |
Sialidosis Type 1 |
|
Tremor, Skeletal muscle atrophy |
ORPHA:812 |
Plasminogen Deficiency, Type I |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:217090 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Hydrocephalus |
OMIM:614886 |
Facioscapulohumeral Dystrophy |
|
Skeletal muscle atrophy |
ORPHA:269 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Ventriculomegaly, Hydrocephalus, Embryonal rhabdomyosarcoma, Agenesis of corpus callosum, Dandy-W... |
OMIM:257300 |
Full Nf2-Related Schwannomatosis |
|
Facial palsy, Myelopathy, Hydrocephalus, Spinal cord tumor, Wrist drop, Foot dorsiflexor weakness |
ORPHA:637 |
Rhombencephalosynapsis |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:59315 |
Acromelic Frontonasal Dysostosis |
|
Encephalocele, Choroid plexus cyst, Gray matter heterotopia, Periventricular nodular heterotopia,... |
OMIM:603671 |
Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Skeletal muscle atrophy, Contractures of the large joints |
OMIM:616716 |
Niemann-Pick Disease, Type A |
|
Skeletal muscle atrophy, Athetosis |
OMIM:257200 |
Cerebrofacioarticular Syndrome |
|
Dysplastic corpus callosum, Gray matter heterotopia, Camptodactyly, Agenesis of corpus callosum, ... |
ORPHA:314679 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Skeletal muscle atrophy, Flexion contracture, Agenesis of corpus callosum, Limb hypertonia |
ORPHA:481152 |
Autosomal Dominant Optic Atrophy, Classic Form |
|
Skeletal muscle atrophy, Scapular winging, Myopathy, Weakness of facial musculature |
ORPHA:98673 |
Fragile X Syndrome |
|
Periventricular heterotopia |
OMIM:300624 |
Cole-Carpenter Syndrome 2 |
|
Hydrocephalus |
OMIM:616294 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Hydrocephalus, Flexion contracture, Camptodactyly |
OMIM:207410 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Communicating hydrocephalus |
ORPHA:2184 |
Combined Oxidative Phosphorylation Defect Type 7 |
|
Skeletal muscle atrophy, Upper limb muscle weakness, Facial diplegia, Distal amyotrophy, Lower li... |
ORPHA:254930 |
Limb Body Wall Complex |
|
Encephalocele, Diastasis recti, Spina bifida, Congenital diaphragmatic hernia, Myelomeningocele, ... |
ORPHA:2369 |
Deafness, Congenital, With Vitiligo And Achalasia |
|
Skeletal muscle atrophy |
OMIM:221350 |
Whipple Disease |
|
Hydrocephalus, Myositis |
ORPHA:3452 |
Encephalocraniocutaneous Lipomatosis |
|
Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation |
OMIM:613001 |
Neonatal Lupus Erythematosus |
|
Hydrocephalus |
ORPHA:398124 |
Mucopolysaccharidosis, Type Vii |
|
Macroglossia, Hydrocephalus, Flexion contracture, Diastasis recti |
OMIM:253220 |
Myopathy With Lactic Acidosis, Hereditary |
|
Skeletal muscle atrophy, Rhabdomyolysis, Myopathy, Increased intramyocellular lipid droplets, Inc... |
OMIM:255125 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Skeletal muscle atrophy, Type 2 muscle fiber predominance, Choreoathetosis, Dystonia, Ventriculom... |
OMIM:615471 |
Tetraamelia-Multiple Malformations Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum |
ORPHA:3301 |
Desmoplastic Small Round Cell Tumor |
|
Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:83469 |
Fetal Akinesia Deformation Sequence 1 |
|
Hip contracture, Decreased muscle mass, Elbow contracture, Camptodactyly of finger, Hydrocephalus... |
OMIM:208150 |
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures |
|
Skeletal muscle atrophy |
OMIM:618862 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Increased circulating IgM level, Lymphadenopathy, Increased circulating IgA level |
OMIM:617099 |
Hydrolethalus Syndrome 1 |
|
Abnormal cortical gyration, Anencephaly, Agenesis of corpus callosum, Gray matter heterotopia, St... |
OMIM:236680 |
Flynn-Aird Syndrome |
|
Skeletal muscle atrophy |
ORPHA:2047 |
Nephroblastoma |
|
Lymphadenopathy |
ORPHA:654 |
Mycophenolate Mofetil Embryopathy |
|
Hydrocephalus, Agenesis of corpus callosum, Congenital diaphragmatic hernia |
ORPHA:268249 |
Bohring-Opitz Syndrome |
|
Flexion contracture, Gray matter heterotopia, Camptodactyly, Agenesis of corpus callosum, Dandy-W... |
OMIM:605039 |
Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Agenesis of corpus callosum, Congenital diaphragmatic hernia |
ORPHA:1780 |
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome |
|
Skeletal muscle atrophy, Myopathy |
ORPHA:85329 |
Poliomyelitis |
|
Skeletal muscle atrophy, Hypoplasia of the musculature, Abnormal skeletal muscle morphology, Uppe... |
ORPHA:2912 |
Marshall-Smith Syndrome |
|
Hydrocephalus, Macrogyria, Death in childhood, Cervical cord compression, Pachygyria, Agenesis of... |
OMIM:602535 |
Thoracoabdominal Syndrome |
|
Hydrocephalus, Anencephaly, Congenital diaphragmatic hernia |
OMIM:313850 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Subependymal cysts, Macroglossia, Gray matter heterotopia, Death in childhood, Polymicrogyria |
OMIM:214100 |
Triosephosphate Isomerase Deficiency |
|
Death in infancy, Skeletal muscle atrophy, Tremor, Death in adolescence, Myopathy, Dystonia |
OMIM:615512 |
Hurler Syndrome |
|
Macroglossia, Death in infancy, Hydrocephalus, Camptodactyly of finger |
ORPHA:93473 |
Leigh Syndrome |
|
Skeletal muscle atrophy, Multiple joint contractures, Increased CSF lactate, Choreoathetosis, Myo... |
ORPHA:506 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Skeletal muscle atrophy, Flexion contracture |
ORPHA:75496 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Skeletal muscle atrophy, Limb joint contracture, Postural tremor, Flexion contracture, Lower limb... |
OMIM:301072 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Lymphadenopathy |
ORPHA:424019 |
Bilateral Perisylvian Polymicrogyria |
|
Flexion contracture, Perisylvian predominant thick cortex pachygyria, Abnormality of neuronal mig... |
ORPHA:98889 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Hydrocephalus |
OMIM:601499 |
Beemer-Ertbruggen Syndrome |
|
Communicating hydrocephalus |
ORPHA:1237 |
Achondroplasia |
|
Hydrocephalus |
ORPHA:15 |
Proteus-Like Syndrome |
|
Communicating hydrocephalus, Hydrocephalus |
ORPHA:2969 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Hand muscle atrophy, Skeletal muscle atrophy, Facial palsy, Death in childhood |
OMIM:211530 |
Cerebral Visual Impairment |
|
Hydrocephalus |
ORPHA:447788 |
Hurler Syndrome |
|
Macroglossia, Hydrocephalus, Flexion contracture |
OMIM:607014 |
Orofaciodigital Syndrome Xvi |
|
Gray matter heterotopia, Ventriculomegaly |
OMIM:617563 |
Apert Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:87 |
Hyper-Igd Syndrome |
|
Increased circulating IgA level, Lymphadenitis, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy... |
OMIM:260920 |
Raine Syndrome |
|
Neonatal death, Death in infancy, Hydrocephalus, Arthrogryposis multiplex congenita |
OMIM:259775 |
Proximal Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Multiple joint contractures, Quadriceps muscle weakness, Flexion contrac... |
ORPHA:70 |
Hec Syndrome |
|
Communicating hydrocephalus |
ORPHA:2119 |
47,Xyy Syndrome |
|
Hydrocephalus |
ORPHA:8 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Skeletal muscle atrophy, Enlarged sylvian cistern, Agenesis of corpus callosum |
OMIM:615802 |
Leukodystrophy, Hypomyelinating, 10 |
|
Skeletal muscle atrophy |
OMIM:616420 |
Carey-Fineman-Ziter Syndrome |
|
Skeletal muscle atrophy, Facial palsy, Aplasia of the pectoralis major muscle, Myopathy, Ventricu... |
ORPHA:1358 |
Vacterl With Hydrocephalus |
|
Aqueductal stenosis, Hydrocephalus, Spina bifida |
ORPHA:3412 |
Combined Oxidative Phosphorylation Deficiency 7 |
|
Skeletal muscle atrophy, Facial diplegia, Facial paralysis |
OMIM:613559 |
Split Cord Malformation |
|
Tethered cord, Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydroc... |
ORPHA:573278 |
Congenital Sialidosis Type 2 |
|
Hydrocephalus |
ORPHA:93400 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Abnormality of neuronal migration |
ORPHA:2518 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Skeletal muscle atrophy |
ORPHA:1486 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Gliosis, Ventriculomegaly |
OMIM:617193 |
Pfeiffer Syndrome |
|
Hydrocephalus |
OMIM:101600 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Skeletal muscle atrophy, Facial palsy, Abnormal muscle fiber morphology |
ORPHA:3068 |
Neurooculorenal Syndrome |
|
Aqueductal stenosis, Hydrocephalus, Partial agenesis of the corpus callosum, Polymicrogyria, Agen... |
OMIM:620305 |
Adams-Oliver Syndrome |
|
Encephalocele, Hydrocephalus |
ORPHA:974 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Splenomegaly, Lymphadenopathy |
OMIM:619183 |
Pfeiffer Syndrome Type 2 |
|
Aqueductal stenosis, Hydrocephalus |
ORPHA:93259 |
Osteopetrosis, Autosomal Recessive 7 |
|
Death in infancy, Hydrocephalus, Lateral ventricle dilatation, Death in childhood |
OMIM:612301 |
Glycogen Storage Disease Iv |
|
Skeletal muscle atrophy, Arthrogryposis multiplex congenita |
OMIM:232500 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Skeletal muscle atrophy, Increased CSF methionine concentration |
OMIM:614300 |
Ciliary Dyskinesia, Primary, 43 |
|
Noncommunicating hydrocephalus |
OMIM:618699 |
Lethal Congenital Contracture Syndrome 2 |
|
Skeletal muscle atrophy, Arthrogryposis multiplex congenita |
OMIM:607598 |
Crouzon Syndrome |
|
Hydrocephalus |
OMIM:123500 |
Synaptic Congenital Myasthenic Syndromes |
|
Skeletal muscle atrophy, Scapular winging, Facial palsy, Hand muscle weakness, Myopathy, Type 1 m... |
ORPHA:98915 |
Autosomal Recessive Ataxia, Beauce Type |
|
Skeletal muscle atrophy, Lower limb muscle weakness, Arm dystonia |
ORPHA:88644 |
Neuraminidase Deficiency |
|
Skeletal muscle atrophy |
OMIM:256550 |
Periventricular Nodular Heterotopia |
|
Periventricular heterotopia |
ORPHA:98892 |
Mucopolysaccharidosis, Type Vi |
|
Macroglossia, Cervical myelopathy, Hydrocephalus, Flexion contracture |
OMIM:253200 |
Multiple Sulfatase Deficiency |
|
Hydrocephalus |
ORPHA:585 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Left ventricular hypertrophy, Hydrocephalus, Elbow flexion contracture, Congenital diaphragmatic ... |
OMIM:245600 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:123790 |
Autosomal Recessive Spastic Paraplegia Type 55 |
|
Skeletal muscle atrophy, Tibialis muscle weakness, Upper limb muscle weakness, Arthrogryposis mul... |
ORPHA:320375 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Hydrocephalus, Elbow contracture, Knee flexion contracture |
OMIM:618162 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Hydrocephalus, Flexion contracture |
OMIM:616007 |
Fraser Syndrome 3 |
|
Hydrocephalus, Stillbirth |
OMIM:617667 |
Carey-Fineman-Ziter Syndrome 1 |
|
Skeletal muscle atrophy, Facial palsy, Hypoplasia of the musculature, Flexion contracture, Myopat... |
OMIM:254940 |
Rett Syndrome |
|
Skeletal muscle atrophy, Increased CSF lactate, Dystonia |
ORPHA:778 |
Cousin Syndrome |
|
Hydrocephalus, Camptodactyly, Hydranencephaly, Joint contracture of the hand, Wrist flexion contr... |
OMIM:260660 |
Short-Rib Thoracic Dysplasia 12 |
|
Neonatal death, Hydrocephalus, Anencephaly, Holoprosencephaly |
OMIM:269860 |
Achondroplasia |
|
Death in infancy, Hydrocephalus |
OMIM:100800 |
X-Linked Intellectual Disability, Seemanova Type |
|
Skeletal muscle atrophy, Hypoplasia of the musculature |
ORPHA:85323 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Colpocephaly, Hydrocephalus, Agenesis of corpus callosum, Congenital diaphragmatic hernia |
OMIM:309801 |
Miller-Dieker Lissencephaly Syndrome |
|
Joint contracture of the hand, Gray matter heterotopia, Lissencephaly, Camptodactyly, Pachygyria,... |
OMIM:247200 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Agenesis of corpus callosum, Hydrocephalus, Facial hypotonia, Ventriculomegaly |
ORPHA:457284 |
7Q11.23 Microduplication Syndrome |
|
Simplified gyral pattern, Hydrocephalus, Ventriculomegaly, Congenital diaphragmatic hernia |
ORPHA:96121 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Hydrocephalus |
OMIM:618590 |
Joubert Syndrome 2 |
|
Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus |
OMIM:608091 |
Hereditary Folate Malabsorption |
|
Skeletal muscle atrophy, Eosinophilia |
ORPHA:90045 |
Rabin-Pappas Syndrome |
|
Hydrocephalus |
OMIM:620155 |
Osteopathia Striata With Cranial Sclerosis |
|
Facial palsy, Hydrocephalus, Partial agenesis of the corpus callosum, Spina bifida occulta, Campt... |
OMIM:300373 |
Functioning Gonadotropic Adenoma |
|
Hydrocephalus |
ORPHA:91348 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Facial palsy |
OMIM:617143 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Skeletal muscle atrophy, Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall muscul... |
ORPHA:2990 |
Adenylosuccinase Deficiency |
|
Skeletal muscle atrophy, Opisthotonus |
OMIM:103050 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Aqueductal stenosis, Hydrocephalus, Partial agenesis of the corpus callosum, Arthrogryposis multi... |
OMIM:619512 |
Orofaciodigital Syndrome I |
|
Abnormal cortical gyration, Myelomeningocele, Hydrocephalus, Gray matter heterotopia, Agenesis of... |
OMIM:311200 |
Mucopolysaccharidosis Type 1 |
|
Abnormal tendon morphology, Hydrocephalus |
ORPHA:579 |
Neurofibromatosis, Type I |
|
Aqueductal stenosis, Rhabdomyosarcoma, Hydrocephalus, Spina bifida |
OMIM:162200 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Hydrocephalus |
ORPHA:2720 |
Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Hydrocephalus, Anencephaly |
OMIM:612284 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Skeletal muscle atrophy, Limb-girdle muscle weakness, Myopathy, Limb muscle weakness |
OMIM:112250 |
Monosomy 18Q |
|
Choreoathetosis, Hydrocephalus |
ORPHA:1600 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Hydrocephalus |
ORPHA:1555 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Skeletal muscle atrophy |
ORPHA:156 |
Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Hydrocephalus, Partial agenesis of the corpus callosum, Lobar holoprose... |
OMIM:610828 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Communicating hydrocephalus |
ORPHA:1064 |
Postpoliomyelitis Syndrome |
|
Skeletal muscle atrophy |
ORPHA:2942 |
Rett Syndrome |
|
Skeletal muscle atrophy, Dystonia |
OMIM:312750 |
Borjeson-Forssman-Lehmann Syndrome |
|
Camptodactyly of toe, Skeletal muscle atrophy |
ORPHA:127 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Gray matter heterotopia, Macroglossia, Syringomyelia |
ORPHA:453499 |
Koolen-De Vries Syndrome |
|
Gray matter heterotopia, Hypotrophy of the small hand muscles, Ventriculomegaly |
OMIM:610443 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Type 2 muscle fiber predominance, Skeletal muscle atrophy, Myopathy, Ventriculomegaly |
OMIM:619743 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Dysplastic corpus callosum, Gray matter heterotopia, Colpocephaly, Holoprosencephaly, Polymicrogy... |
OMIM:618820 |
Oculogastrointestinal Muscular Dystrophy |
|
Skeletal muscle atrophy, Myopathy |
ORPHA:1876 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Splenomegaly, Impaired oxidative burst, Lymphadenitis, Lymphadenopathy |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Splenomegaly, Impaired oxidative burst, Lymphadenitis, Lymphadenopathy |
OMIM:233710 |
Melkersson-Rosenthal Syndrome |
|
Lymphadenopathy |
ORPHA:2483 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Flexion contracture, Rhabdomyolysis, Increased... |
ORPHA:17 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Hydrocephalus, Joint contracture of the hand, Camptodactyly |
OMIM:182212 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Tremor, Hydrocephalus |
OMIM:277400 |
Klatskin Tumor |
|
Lymphadenopathy |
ORPHA:99978 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:613603 |
Mirage Syndrome |
|
Hydrocephalus |
OMIM:617053 |
Castleman Disease |
|
Mediastinal lymphadenopathy, Follicular hyperplasia, Generalized lymphadenopathy, Lymphadenopathy |
ORPHA:160 |
Absent Radius-Anogenital Anomalies Syndrome |
|
Hydrocephalus |
ORPHA:3016 |
1Q21.1 Microdeletion Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum |
ORPHA:250989 |
Multiple Myeloma |
|
Increased circulating IgA level, Splenomegaly, Lymphadenopathy, Decreased circulating antibody le... |
ORPHA:29073 |
Monosomy 9Q22.3 |
|
Hydrocephalus, Ventriculomegaly, Rhabdomyosarcoma |
ORPHA:77301 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Agenesis of corpus callosum, Periventricular heterotopia |
OMIM:618929 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Splenomegaly, Increased circulating antibody level, Lymphadenopathy |
OMIM:617591 |
Becker Muscular Dystrophy |
|
Skeletal muscle atrophy |
ORPHA:98895 |
Acrofacial Dysostosis 1, Nager Type |
|
Aqueductal stenosis, Hydrocephalus, Polymicrogyria, Congenital diaphragmatic hernia |
OMIM:154400 |
Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Camptodactyly of finger, Myelomeningocele, Hydrocephalus |
ORPHA:90652 |
Aymé-Gripp Syndrome |
|
Hydrocephalus, Ventriculomegaly, Congenital diaphragmatic hernia, Camptodactyly |
ORPHA:1272 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Splenomegaly, Impaired oxidative burst, Lymphadenitis, Lymphadenopathy |
OMIM:233690 |
H Syndrome |
|
Hydrocephalus, Camptodactyly |
ORPHA:168569 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Abnormal lymph node morphology, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:85450 |
Capillary Malformation-Arteriovenous Malformation |
|
Hydrocephalus, Abnormality of the musculature of the limbs |
ORPHA:137667 |
Tetrasomy 9P |
|
Myositis, Abnormal spinal cord morphology, Hydrocephalus, Lissencephaly, Pachygyria, Polymicrogyr... |
ORPHA:3310 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Macroglossia, Hydrocephalus, Flexion contracture |
ORPHA:505248 |
Omenn Syndrome |
|
Splenomegaly, Hypoplasia of the thymus, Lymphadenopathy |
OMIM:603554 |
Holoprosencephaly 9 |
|
Hydrocephalus, Partial agenesis of the corpus callosum, Abnormal cortical gyration, Holoprosencep... |
OMIM:610829 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Gray matter heterotopia |
OMIM:618797 |
Cardiofaciocutaneous Syndrome 1 |
|
Hydrocephalus |
OMIM:115150 |
Apert Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:101200 |
Jacobsen Syndrome |
|
Hydrocephalus, Flexion contracture, Holoprosencephaly |
OMIM:147791 |
3P25.3 Microdeletion Syndrome |
|
Skeletal muscle atrophy, Knee flexion contracture |
ORPHA:435638 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Hydrocephalus |
ORPHA:2736 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Hydrocephalus, Multiple joint contractures, Torticollis |
ORPHA:536467 |
Tick-Borne Encephalitis |
|
Skeletal muscle atrophy, Facial palsy, Tremor, CSF pleocytosis, Myelitis |
ORPHA:297 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Spina bifida, Hydrocephalus, Dural ectasia, Agenesis of corpus callosum, Ven... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Spina bifida, Hydrocephalus, Dural ectasia, Agenesis of corpus callosum, Ven... |
ORPHA:363958 |
Orofaciodigital Syndrome Type 6 |
|
Tremor, Abnormality of neuronal migration |
ORPHA:2754 |
Basal Cell Nevus Syndrome 1 |
|
Hydrocephalus, Spina bifida |
OMIM:109400 |
16Q24.3 Microdeletion Syndrome |
|
Colpocephaly, Ventriculomegaly, Periventricular heterotopia |
ORPHA:261250 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Atrophy of the spinal cord, Hydrocephalus |
ORPHA:79282 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Macroglossia, Hydrocephalus, Myopathy |
OMIM:261740 |
Spinocerebellar Ataxia 36 |
|
Skeletal muscle atrophy |
OMIM:614153 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Camptodactyly of finger, Congenital ... |
ORPHA:2215 |
6Q Terminal Deletion Syndrome |
|
Periventricular heterotopia, Abnormality of neuronal migration, Gray matter heterotopia, Colpocep... |
ORPHA:75857 |
Autoimmune Lymphoproliferative Syndrome |
|
Chronic noninfectious lymphadenopathy, Increased circulating IgA level, Hypersplenism, Splenomega... |
ORPHA:3261 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Ventriculomegaly, Flexion contracture of finger, Abnormality of neuronal migration, Ankle flexion... |
ORPHA:464311 |
Laurin-Sandrow Syndrome |
|
Hydrocephalus |
ORPHA:2378 |
Unilateral Polymicrogyria |
|
Abnormal posturing, Perisylvian polymicrogyria |
ORPHA:268943 |
Shprintzen-Goldberg Syndrome |
|
Communicating hydrocephalus, Aplasia/Hypoplasia of the abdominal wall musculature, Camptodactyly ... |
ORPHA:2462 |
Frontometaphyseal Dysplasia 1 |
|
Skeletal muscle atrophy, Scapular winging, Interphalangeal joint contracture of finger, Hypoplasi... |
OMIM:305620 |
Cole-Carpenter Syndrome |
|
Communicating hydrocephalus |
ORPHA:2050 |
Fontaine Progeroid Syndrome |
|
Death in infancy, Periventricular heterotopia, Hypoplasia of the abdominal wall musculature, Hydr... |
OMIM:612289 |
Osteootohepatoenteric Syndrome |
|
Hydrocephalus |
OMIM:619377 |
Cerebrooculonasal Syndrome |
|
Encephalocele, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:605627 |
Van Maldergem Syndrome 2 |
|
Gray matter heterotopia, Periventricular nodular heterotopia, Subcortical band heterotopia |
OMIM:615546 |
Mohr Syndrome |
|
Hydrocephalus |
OMIM:252100 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Skeletal muscle atrophy |
OMIM:620089 |
Dextrocardia |
|
Hydrocephalus |
ORPHA:1666 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation |
OMIM:619575 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Skeletal muscle atrophy |
ORPHA:168563 |
Mucopolysaccharidosis Type 3 |
|
Macroglossia, Hydrocephalus, Flexion contracture, Ventriculomegaly |
ORPHA:581 |
Werner Syndrome |
|
Skeletal muscle atrophy, Miscarriage |
ORPHA:902 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Hydrocephalus |
OMIM:101800 |
Dubowitz Syndrome |
|
Hydrocephalus, Spina bifida occulta |
ORPHA:235 |
7Q31 Microdeletion Syndrome |
|
Skeletal muscle atrophy, Torticollis |
ORPHA:251061 |
Trisomy 8P |
|
Hydrocephalus, Multiple joint contractures, Agenesis of corpus callosum, Dandy-Walker malformation |
ORPHA:264450 |
Refsum Disease |
|
Skeletal muscle atrophy |
ORPHA:773 |
Duane Retraction Syndrome |
|
Blepharospasm, Skeletal muscle atrophy, Spina bifida occulta, Camptodactyly |
ORPHA:233 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Hydrocephalus |
OMIM:104350 |
Cardiofaciocutaneous Syndrome |
|
Hydrocephalus |
ORPHA:1340 |
Pancreatoblastoma |
|
Abnormal lymph node morphology |
ORPHA:677 |
Congenital Myopathy 13 |
|
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Flexion contracture, Increased int... |
OMIM:255995 |
Osteogenesis Imperfecta, Type Xiii |
|
Skeletal muscle atrophy |
OMIM:614856 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Gray matter heterotopia |
OMIM:608624 |
Ciliary Dyskinesia, Primary, 1 |
|
Communicating hydrocephalus |
OMIM:244400 |
Donohue Syndrome |
|
Skeletal muscle atrophy |
OMIM:246200 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Dystonia |
ORPHA:496641 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Hydrocephalus, Flexion contracture, Elbow flexion contracture, Stillbirth, Camptodactyly |
ORPHA:95699 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type |
|
Skeletal muscle atrophy, Flexion contracture |
OMIM:300243 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Holoprosencephaly, Abnormality of neuronal migration |
ORPHA:3186 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Skeletal muscle atrophy, Limb-girdle muscle weakness, Rhabdomyolysis, Pelvic girdle muscle weakness |
ORPHA:79240 |
Cryptococcosis |
|
Hydrocephalus, Limb muscle weakness |
ORPHA:1546 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Torticollis, Isometric tremor, Head titubation, Hydrocephalus, Dystonia, Decreased CSF 5-methylte... |
OMIM:619475 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Skeletal muscle atrophy, Flexion contracture |
OMIM:300232 |
Ruijs-Aalfs Syndrome |
|
Skeletal muscle atrophy, Elbow flexion contracture |
OMIM:616200 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Hydrocephalus |
ORPHA:220295 |
Meckel Syndrome, Type 1 |
|
Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, Camptodactyly of finger, Hyd... |
OMIM:249000 |
Gaucher Disease |
|
Death in infancy, Tremor, Hydrocephalus, Arthrogryposis multiplex congenita, Ventriculomegaly |
ORPHA:355 |
Coccidioidomycosis |
|
Eosinophilia, CSF pleocytosis, Hydrocephalus, CSF lymphocytic pleiocytosis, Hypoglycorrhachia, In... |
ORPHA:228123 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Skeletal muscle atrophy, Myositis |
OMIM:615934 |
Autosomal Recessive Spastic Paraplegia Type 9B |
|
Skeletal muscle atrophy, Postural tremor |
ORPHA:447760 |
Gaucher Disease, Type Iiic |
|
Hydrocephalus |
OMIM:231005 |
Nijmegen Breakage Syndrome |
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Skeletal muscle atrophy, Abnormality of neuronal migration, Rhabdomyosarcoma |
ORPHA:647 |
Mitochondrial Complex I Deficiency, Nuclear Type 32 |
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Skeletal muscle atrophy, Increased CSF lactate, Death in childhood |
OMIM:618252 |
Mismatch Repair Cancer Syndrome 1 |
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Gray matter heterotopia, Agenesis of corpus callosum, Rhabdomyosarcoma |
OMIM:276300 |
Smith-Lemli-Opitz Syndrome |
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Death in infancy, Periventricular heterotopia, Hydrocephalus, Partial agenesis of the corpus call... |
OMIM:270400 |
Kabuki Syndrome |
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Hydrocephalus, Ventriculomegaly, Congenital diaphragmatic hernia |
ORPHA:2322 |
Sturge-Weber Syndrome |
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Hydrocephalus |
ORPHA:3205 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
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Encephalocele, Hydrocephalus, Holoprosencephaly |
ORPHA:2166 |
Moebius Syndrome |
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Death in infancy, Skeletal muscle atrophy, Facial palsy, Aplasia of the pectoralis major muscle, ... |
ORPHA:570 |
Igg4-Related Submandibular Gland Disease |
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Increased circulating IgG4 level, Increased circulating IgE level, Lymphadenopathy, Increased cir... |
ORPHA:449432 |
Hajdu-Cheney Syndrome |
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Hydrocephalus, Syringomyelia |
ORPHA:955 |
Tbck-Related Intellectual Disability Syndrome |
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Macroglossia, Skeletal muscle atrophy, Diastasis recti, Ventriculomegaly |
ORPHA:488632 |
Bardet-Biedl Syndrome |
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Skeletal muscle atrophy |
ORPHA:110 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
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Death in infancy, Skeletal muscle atrophy, Ragged-red muscle fibers, Increased CSF lactate, Incre... |
OMIM:252010 |
Mend Syndrome |
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Hydrocephalus, Dandy-Walker malformation, Limb hypertonia |
ORPHA:401973 |
Alobar Holoprosencephaly |
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Hydrocephalus, Flexion contracture, Neural tube defect, Limb dystonia, Agenesis of corpus callosum |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
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Hydrocephalus, Flexion contracture, Neural tube defect, Limb dystonia, Agenesis of corpus callosum |
ORPHA:93926 |
Lobar Holoprosencephaly |
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Hydrocephalus, Flexion contracture, Neural tube defect, Limb dystonia, Agenesis of corpus callosum |
ORPHA:93924 |
Semilobar Holoprosencephaly |
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Hydrocephalus, Flexion contracture, Neural tube defect, Limb dystonia, Agenesis of corpus callosum |
ORPHA:220386 |
Congenital Disorder Of Glycosylation, Type Iie |
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Death in infancy, Skeletal muscle atrophy |
OMIM:608779 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
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Skeletal muscle atrophy, Opisthotonus |
OMIM:210210 |
Fanconi Anemia, Complementation Group D2 |
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Hydrocephalus, Agenesis of corpus callosum |
OMIM:227646 |
Hyperparathyroidism, Transient Neonatal |
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Communicating hydrocephalus, Ventriculomegaly |
OMIM:618188 |
Acth-Independent Macronodular Adrenal Hyperplasia |
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Skeletal muscle atrophy |
OMIM:219080 |
Schwartz-Jampel Syndrome |
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Hip contracture, Death in infancy, Skeletal muscle atrophy, Shoulder flexion contracture, Skeleta... |
ORPHA:800 |
Lenz-Majewski Hyperostotic Dwarfism |
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Hydrocephalus, Agenesis of corpus callosum, Facial palsy |
ORPHA:2658 |
Alpha-Mannosidosis, Infantile Form |
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Communicating hydrocephalus, Macroglossia, Facial hypotonia, Myopathy |
ORPHA:309282 |
Common Variable Immunodeficiency |
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Splenomegaly, Lymphadenopathy, Decreased circulating antibody level |
ORPHA:1572 |
Isotretinoin-Like Syndrome |
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Hydrocephalus |
ORPHA:2306 |
Graft Versus Host Disease |
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Skeletal muscle atrophy, Myositis, Dupuytren contracture |
ORPHA:39812 |
Distal 22Q11.2 Microduplication Syndrome |
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Camptodactyly of toe, Macroglossia, Hydrocephalus, Camptodactyly of finger |
ORPHA:261337 |
Autosomal Recessive Spastic Paraplegia Type 20 |
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Upper limb muscle weakness, Skeletal muscle atrophy, Distal amyotrophy |
ORPHA:101000 |
Campomelic Dysplasia |
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Contracture of the distal interphalangeal joint of the fingers, Hydrocephalus, Spina bifida, Spin... |
OMIM:114290 |
Histiocytoid Cardiomyopathy |
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Hydrocephalus, Agenesis of corpus callosum |
ORPHA:137675 |
Localized Scleroderma |
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Skeletal muscle atrophy, Flexion contracture, Myopathy |
ORPHA:90289 |
Mucopolysaccharidosis Type 2 |
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Communicating hydrocephalus, Spinal cord compression, Contractures of the large joints, Macroglos... |
ORPHA:580 |
Osteogenesis Imperfecta |
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Hydrocephalus, Flexion contracture, Noncommunicating hydrocephalus, Syringomyelia, Ventriculomegaly |
ORPHA:666 |
Microphthalmia With Limb Anomalies |
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Death in infancy, Hydrocephalus, Camptodactyly of 2nd-5th fingers |
ORPHA:1106 |
Knobloch Syndrome |
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Occipital encephalocele, Hydrocephalus |
ORPHA:1571 |
Recon Progeroid Syndrome |
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Skeletal muscle atrophy |
OMIM:620370 |
Wolf-Hirschhorn Syndrome |
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Decreased muscle mass, Tethered cord, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:194190 |
Arima Syndrome |
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Dilated fourth ventricle, Occipital meningocele, Gray matter heterotopia |
OMIM:243910 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
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Gray matter heterotopia, Macroglossia, Type 1 muscle fiber atrophy, Agenesis of corpus callosum |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
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Gray matter heterotopia, Macroglossia, Type 1 muscle fiber atrophy, Agenesis of corpus callosum |
ORPHA:352665 |
Oeis Complex |
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Myelomeningocele, Tethered cord, Hydrocephalus |
OMIM:258040 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
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Communicating hydrocephalus |
OMIM:616084 |
Farber Disease |
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Skeletal muscle atrophy, Flexion contracture |
ORPHA:333 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
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Hip contracture, Hydrocephalus, Flexion contracture, Myopathy |
ORPHA:3042 |
Meningioma |
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Upper limb muscle weakness, Hydrocephalus, Lower limb muscle weakness, Facial palsy |
ORPHA:2495 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
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Communicating hydrocephalus, Hypoglycorrhachia |
ORPHA:168577 |
Granulomatous Disease, Chronic, X-Linked |
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Splenomegaly, Impaired oxidative burst, Lymphadenitis, Lymphadenopathy |
OMIM:306400 |
Malt Lymphoma |
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Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:52417 |
Meckel Syndrome |
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Encephalocele, Hydrocephalus, Anencephaly, Lobar holoprosencephaly, Dandy-Walker malformation |
ORPHA:564 |
Native American Myopathy |
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Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Congenital contracture, Campt... |
ORPHA:168572 |
Orofaciodigital Syndrome Xiv |
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Occipital encephalocele, Periventricular heterotopia, Partial agenesis of the corpus callosum, Si... |
OMIM:615948 |
Craniopharyngioma |
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Hydrocephalus |
ORPHA:54595 |
Pseudoaminopterin Syndrome |
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Posterolateral diaphragmatic hernia, Hydrocephalus |
ORPHA:221120 |
Fanconi Anemia |
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Hydrocephalus, Ventriculomegaly, Spina bifida |
ORPHA:84 |
Fanconi Anemia, Complementation Group L |
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Hydrocephalus |
OMIM:614083 |
Wiedemann-Rautenstrauch Syndrome |
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Hydrocephalus, Flexion contracture, Generalized amyotrophy, Agenesis of corpus callosum, Dandy-Wa... |
OMIM:264090 |
22Q11.2 Deletion Syndrome |
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Hydrocephalus, Meningocele, Spina bifida, Occipital myelomeningocele |
ORPHA:567 |
Multiple System Atrophy 1, Susceptibility To |
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Tremor, Skeletal muscle atrophy |
OMIM:146500 |
Arthrogryposis And Ectodermal Dysplasia |
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Skeletal muscle atrophy, Joint contracture of the hand, Arthrogryposis multiplex congenita, Campt... |
OMIM:601701 |
Tetraamelia Syndrome 1 |
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Hydrocephalus, Congenital diaphragmatic hernia |
OMIM:273395 |
Microphthalmia With Linear Skin Defects Syndrome |
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Hydrocephalus, Agenesis of corpus callosum, Congenital diaphragmatic hernia |
ORPHA:2556 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
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Skeletal muscle atrophy, Increased sarcoplasmic glycogen |
ORPHA:264580 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
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Hydrocephalus |
ORPHA:91350 |
Cockayne Syndrome A |
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Tremor, Hip contracture, Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:216400 |
Costello Syndrome |
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Rhabdomyosarcoma, Achilles tendon contracture, Hydrocephalus, Macroglossia, Ventriculomegaly |
OMIM:218040 |
Pituitary Adenoma 4, Acth-Secreting |
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Skeletal muscle atrophy |
OMIM:219090 |
Mend Syndrome |
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Hydrocephalus, Dandy-Walker malformation |
OMIM:300960 |
Chromosome 1P36 Deletion Syndrome, Distal |
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Camptodactyly of finger, Hydrocephalus, Lateral ventricle dilatation, Camptodactyly, Pachygyria, ... |
OMIM:607872 |
Hypoplasminogenemia |
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Hydrocephalus, Dandy-Walker malformation |
ORPHA:722 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
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Hydrocephalus |
ORPHA:163979 |
Kikuchi-Fujimoto Disease |
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Generalized lymphadenopathy, Splenomegaly, Cervical lymphadenopathy, Abnormal lymph node morpholo... |
ORPHA:50918 |
Wiedemann-Rautenstrauch Syndrome |
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Camptodactyly of finger, Action tremor, Tremor, Hydrocephalus, Skeletal muscle hypertrophy, Polym... |
ORPHA:3455 |
Autosomal Recessive Malignant Osteopetrosis |
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Tremor, Hydrocephalus |
ORPHA:667 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
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Communicating hydrocephalus, Aplasia of the right hemidiaphragm, Limb tremor, Mild fetal ventricu... |
OMIM:619841 |
Fraser Syndrome 1 |
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Encephalocele, Myelomeningocele, Abnormal cortical gyration, Hydrocephalus |
OMIM:219000 |
Focal Dermal Hypoplasia |
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Diastasis recti, Congenital diaphragmatic hernia, Hydrocephalus, Myelomeningocele, Spina bifida o... |
OMIM:305600 |
Cockayne Syndrome B |
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Tremor, Normal pressure hydrocephalus, Death in childhood |
OMIM:133540 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
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Communicating hydrocephalus, Facial hypotonia, Ventriculomegaly |
ORPHA:457359 |
Marfan Syndrome |
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Skeletal muscle atrophy, Meningocele, Dural ectasia |
ORPHA:558 |
Baller-Gerold Syndrome |
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Hydrocephalus, Spina bifida occulta, Agenesis of corpus callosum, Polymicrogyria |
OMIM:218600 |
Hajdu-Cheney Syndrome |
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Hydrocephalus |
OMIM:102500 |
Bannayan-Riley-Ruvalcaba Syndrome |
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Skeletal muscle atrophy, Myopathy |
ORPHA:109 |
Loeys-Dietz Syndrome 2 |
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Hydrocephalus, Joint contracture of the hand, Camptodactyly, Dural ectasia |
OMIM:610168 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
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Hydrocephalus, Flexion contracture |
OMIM:619321 |
Otopalatodigital Syndrome, Type Ii |
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Hydrocephalus, Stillbirth, Elbow contracture, Spina bifida |
OMIM:304120 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
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Communicating hydrocephalus, Ventriculomegaly |
OMIM:617011 |
Heterotaxy, Visceral, 1, X-Linked |
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Aqueductal stenosis, Myelomeningocele, Hydrocephalus |
OMIM:306955 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
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Skeletal muscle atrophy |
OMIM:615895 |
Yunis-Varon Syndrome |
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Hydrocephalus, Pachygyria, Agenesis of corpus callosum |
ORPHA:3472 |
Cockayne Syndrome Type 3 |
|
Skeletal muscle atrophy, Flexion contracture, Astrocytosis, Intention tremor |
ORPHA:90324 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
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Skeletal muscle atrophy, Dystonia |
OMIM:256810 |
Lymphangioleiomyomatosis |
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Hydrocephalus |
ORPHA:538 |
Periventricular Nodular Heterotopia 9 |
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Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria |
OMIM:618918 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
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Skeletal muscle atrophy, Flexion contracture |
ORPHA:89842 |
Steinert Myotonic Dystrophy |
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Skeletal muscle atrophy, Abnormality of the tongue muscle, Abnormality of masticatory muscle, Fac... |
ORPHA:273 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
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Skeletal muscle atrophy, Myopathy, Type 1 muscle fiber predominance |
OMIM:614557 |
Loeys-Dietz Syndrome 1 |
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Hydrocephalus, Camptodactyly |
OMIM:609192 |
Cockayne Syndrome |
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Skeletal muscle atrophy, Contractures of the large joints, Congenital contracture, Limb hypertoni... |
ORPHA:191 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
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Hydrocephalus, Ventriculomegaly |
ORPHA:2072 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
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Hydrocephalus, Facial paralysis, Dystonia, Limb dystonia |
OMIM:175780 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
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Facial hypotonia, Diastasis recti, Congenital diaphragmatic hernia, Hydrocephalus, Macroglossia, ... |
OMIM:312870 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Skeletal muscle atrophy, Flexion contracture, Ventriculomegaly, Camptodactyly |
OMIM:309590 |
Idiopathic Hypereosinophilic Syndrome |
|
Skeletal muscle atrophy, Eosinophilia |
ORPHA:3260 |
Townes-Brocks Syndrome 1 |
|
Hydrocephalus, Tethered cord, Holoprosencephaly |
OMIM:107480 |
Peters Plus Syndrome |
|
Hydrocephalus, Spina bifida occulta, Ventriculomegaly |
ORPHA:709 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Skeletal muscle atrophy, Camptodactyly of finger, Flexion contracture, Elbow flexion contracture,... |
OMIM:256040 |
Orofaciodigital Syndrome Type 14 |
|
Dilated fourth ventricle, Periventricular heterotopia, Partial agenesis of the corpus callosum, D... |
ORPHA:434179 |
Peters-Plus Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Diastasis recti, Ventriculomegaly |
OMIM:261540 |
Exstrophy-Epispadias Complex |
|
Hydrocephalus, Spina bifida |
ORPHA:322 |
Neurofibromatosis Type 1 |
|
Hydrocephalus |
ORPHA:636 |
Roberts-Sc Phocomelia Syndrome |
|
Ankle flexion contracture, Hydrocephalus, Frontal encephalocele, Elbow flexion contracture, Knee ... |
OMIM:268300 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Skeletal muscle atrophy |
ORPHA:1969 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Skeletal muscle atrophy, Myopathy |
ORPHA:536545 |
Adenocarcinoma Of The Anal Canal |
|
Lymphadenopathy |
ORPHA:424016 |
Tuberous Sclerosis Complex |
|
Noncommunicating hydrocephalus, Subependymal nodules |
ORPHA:805 |
Genitopatellar Syndrome |
|
Hip contracture, Periventricular heterotopia, Knee flexion contracture, Colpocephaly, Pachygyria,... |
OMIM:606170 |
Immunodeficiency 31C |
|
Skeletal muscle atrophy |
OMIM:614162 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Neonatal death, Hydrocephalus, Aqueductal stenosis, Lateral ventricle dilatation |
OMIM:619534 |
Camurati-Engelmann Disease |
|
Skeletal muscle atrophy |
OMIM:131300 |
Kabuki Syndrome 1 |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:147920 |
Coffin-Siris Syndrome 12 |
|
Facial palsy, Noncommunicating hydrocephalus |
OMIM:619325 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Hydrocephalus |
ORPHA:363700 |
Pierson Syndrome |
|
Skeletal muscle atrophy, Death in childhood |
OMIM:609049 |
Lysinuric Protein Intolerance |
|
Skeletal muscle atrophy |
OMIM:222700 |
Proteus Syndrome |
|
Gray matter heterotopia, Myofibrillar myopathy, Decreased muscle mass |
ORPHA:744 |
Cystinosis, Nephropathic |
|
Skeletal muscle atrophy, Myopathy |
OMIM:219800 |
Atypical Werner Syndrome |
|
Calf muscle hypertrophy, Abnormality of the Achilles tendon, Skeletal muscle atrophy |
ORPHA:79474 |
Camurati-Engelmann Disease |
|
Skeletal muscle atrophy, Facial palsy |
ORPHA:1328 |
Leprosy |
|
Skeletal muscle atrophy, Foot dorsiflexor weakness |
ORPHA:548 |
Stickler Syndrome |
|
Macroglossia, Skeletal muscle atrophy |
ORPHA:828 |
Sarcoidosis |
|
Abnormal lymph node morphology, Lymphadenopathy |
ORPHA:797 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Hydrocephalus, Agenesis of corpus callosum, Hypoplasia of facial muscula... |
OMIM:164210 |
Leprechaunism |
|
Skeletal muscle atrophy |
ORPHA:508 |
Primrose Syndrome |
|
Hip contracture, Skeletal muscle atrophy, Flexion contracture, Knee flexion contracture, Distal a... |
OMIM:259050 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Periventricular heterotopia, Flexion contracture, Lateral ventricle dilatation, Camptodactyly, Po... |
ORPHA:261537 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Periventricular heterotopia, Flexion contracture, Hypoplastic anterior commissure, Lateral ventri... |
ORPHA:261552 |
Mowat-Wilson Syndrome |
|
Periventricular heterotopia, Flexion contracture, Camptodactyly, Polymicrogyria, Agenesis of corp... |
ORPHA:2152 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Neoplasm of the thymus, Abnormal lymph node morphology |
ORPHA:99889 |
Pontocerebellar Hypoplasia Type 7 |
|
Skeletal muscle atrophy |
ORPHA:284339 |