Nervous System Disorders

Description  OMIM Number 
ALEXANDER DISEASE 203450
ALPERS DIFFUSE DEGENERATION OF CEREBRAL GRAY MATTER WITH HEPATIC CIRRHOSIS 203700
ALZHEIMER DISEASE; AD 104300
AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1 105400
BASAL GANGLIA CALCIFICATION IDIOPATHIC 1; IBGC1 213600
CANAVAN DISEASE 271900
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1; CADASIL1 125310
CEROID LIPOFUSCINOSIS, NEURONAL 1, INFANTILE; CLN1 256730
CEROID LIPOFUSCINOSIS, NEURONAL 2, LATE INFANTILE TYPE; CLN2 204500
CEROID LIPOFUSCINOSIS, NEURONAL 3, JUVENILE; CLN3 204200
CHARCOT-MARIE-TOOTH DISEASE DEMYELINATING TYPE 1A; CMT1A 118220
CHARCOT-MARIE-TOOTH DISEASE 1B; CMT1B 118200
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D; CMT2D 601472
CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY, X-LINKED; CMTX1 302800
DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY; DRPLA 125370
EPILEPSY, GENERALIZED, IDIOPATHIC; EGI 600669
EPILEPTIC ENCEPHALOPATHY LENNOX-GASTAUT TYPE 606369
FETAL AKINESIA DEFORMATION SEQUENCE; FADS 208150
FRIEDREICH ATAXIA 1; FRDA 229300
GILLES DE LA TOURETTE SYNDROME; GTS 137580
HUNTINGTON DISEASE; HD 143100
LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM (OVARIOLEUKODYSTROPHY, INCLUDED 603896
MACHADO-JOSEPH DISEASE; MJD 109150
MAJOR AFFECTIVE DISORDER 1; MAFD1 125480
MAJOR AFFECTIVE DISORDER 2; MAFD2 309200
MASA SYNDROME 303350
MILLER-DIEKER LISSENCEPHALY SYNDROME; MDLS 247200
MOLYBDENUM COFACTOR DEFICIENCY 252150
MULTIPLE SCLEROSIS SUSCEPTIBILITY TO; MS 126200
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES) TYPE A 1; MDDGA1 236670
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES) TYPE A 4; MDDGA4 253800
MYOCLONIC EPILEPSY NEONATAL WITH SUPPRESSION-BURST PATTERN 609304
MYOCLONIC EPILEPSY OF LAFORA 254780
MYOCLONIC EPILEPSY, JUVENILE; EJM1 254770
MYOCLONUS EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERFF 545000
NEURAL TUBE DEFECTS 182940
NEUROAXONAL DYSTROPHY, INFANTILE 256600
NEUROBLASTOMA; NB NEUROBLASTOMA SUPPRESSOR, INCLUDED; NBS, INCLUDED 256700
NEUROPATHY, CONGENITAL SENSORY, WITH ANHIDROSIS 256800
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3 223900
PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION; PKAN; HALLERVORDEN-SPATZ DISEASE INCLUDED 234200
PARKINSON DISEASE FAMILIAL TYPE 1; PARK1 168601
PARKINSON DISEASE 1 168600
PELIZAEUS-MERZBACHER DISEASE; PMD 312080
RETT SYNDROME; RTT 312750
RETT SYNDROME, CONGENITAL VARIANT FORKHEAD BOX G1; FOXG1 613454
SCHIZOPHRENIA; SCZD 181500
SMITH-MAGENIS SYNDROME; SMS 182290
SOTOS SYNDROME 117550
SPINOCEREBELLAR ATAXIA 1; SCA1 164400
SPINOCEREBELLAR ATAXIA 2; SCA2 183090
SPINOCEREBELLAR ATAXIA 7; SCA7 164500
SUPRANUCLEAR PALSY PROGRESSIVE 1; PSNP1 601104
TRIOSEPHOSPHATE ISOMERASE 1; TPI1 190450
VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF; VED 277460