Select item 482783 Efavirenz response Efavirenz central nervous system toxicity, susceptibility to Efavirenz, poor metabolism of Select item 61565 Spongy degeneration of central nervous system ACY2 deficiency ASP deficiency Aminoacylase 2 deficiency Aspartoacylase deficiency Canavan disease Canavan-van Bogaert-Bertrand disease Spongy degeneration of the central nervous system Von Bogaert-Bertrand disease Select item 347037 Vanishing white matter disease CACH syndrome CACH/VWM syndrome Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter Childhood ataxia with diffuse central nervous system hypomyelination Cree leukoencehalopathy EIF2B1-Related Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter EIF2B2-Related Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter EIF2B3-Related Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter EIF2B4-Related Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter EIF2B5-Related Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter Leukoencephalopathy with vanishing white matter Myelinosis centralis diffusa Select item 140820 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 Cerebromuscular dystrophy, Fukuyama type Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A4 Fukuyama congenital muscular dystrophy Fukuyama type muscular dystrophy Muscular dystrophy, congenital progressive, with mental retardation Muscular dystrophy, congenital, with central nervous system involvement WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, FKTN-RELATED Walker-Warburg Syndrome, Fktn-Related Select item 57667 Adrenoleukodystrophy ADDISON DISEASE AND CEREBRAL SCLEROSIS Adrenoleukodystrophy, X-Linked BRONZE SCHILDER DISEASE MELANODERMIC LEUKODYSTROPHY SIEMERLING-CREUTZFELDT DISEASE Select item 4886 Gerstmann-Straussler-Scheinker syndrome Amyloidosis cerebral with spongiform encephalopathy CEREBELLAR ATAXIA, PROGRESSIVE DEMENTIA, AND AMYLOID DEPOSITS IN CNS Cerebellar ataxia, progressive dementia, and amyloid deposits in the central nervous system Encephalopathy subacute spongiform Gerstmann-Straussler type GERSTMANN-STRAUSSLER DISEASE Gerstmann-Straussler-Scheinker Disease PRION DEMENTIA Spinocerebellar ataxia and plaque-like deposits Spongiform encephalopathy Select item 412536 Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked CIIP X-linked Congenital idiopathic intestinal pseudoobstruction INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, WITH CENTRAL NERVOUS SYSTEM INVOLVEMENT Select item 409531 Gaucher disease type I Acid beta-glucosidase deficiency GBA DEFICIENCY GD 1 GD I Gaucher disease type 1 Gaucher disease, noncerebral juvenile Gaucher's disease, type 1 Glucocerebrosidase deficiency Select item 322656 Li-Fraumeni syndrome 1 Select item 358269 Multiple sclerosis, susceptibility to DISSEMINATED SCLEROSIS Multiple sclerosis susceptibility Select item 344288 Tuberous sclerosis 1 Select item 413414 Glioma susceptibility 1 Select item 78650 Niemann-Pick disease, type A SPHINGOMYELIN LIPIDOSIS SPHINGOMYELINASE DEFICIENCY Select item 18013 Neurofibromatosis, type 1 NEUROFIBROMATOSIS, TYPE I NEUROFIBROMATOSIS, TYPE I, SOMATIC Peripheral type neurofibromatosis Recklinghausen's disease Von Recklinghausen disease Select item 61440 Pelizaeus-Merzbacher disease LEUKODYSTROPHY, HYPOMYELINATING, 1 Pelizaeus Merzbacher brain sclerosis Pelizeaus-Merzbacher spectrum disorder Sudanophilic leukodystrophy Select item 7467 Deficiency of alpha-mannosidase Alpha mannosidase B deficiency Alpha-Mannosidosis Lysosomal alpha-D-mannosidase deficiency Mannosidosis, alpha B lysosomal Select item 320428 Mycobacterium tuberculosis, susceptibility to Select item 78651 Niemann-Pick disease, type B Select item 326486 Pyruvate dehydrogenase E1-alpha deficiency ATAXIA WITH LACTIC ACIDOSIS I ATAXIA, INTERMITTENT, WITH ABNORMAL PYRUVATE METABOLISM ATAXIA, INTERMITTENT, WITH PYRUVATE DEHYDROGENASE DEFICIENCY Ataxia, intermittent, with pyruvate dehydrogenase, or decarboxylase, deficiency X-linked Leigh syndrome Select item 463618 Parkinson disease, late-onset Hereditary late onset Parkinson disease PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO Parkinson disease, susceptibility to Parkinson's disease Susceptibility to Parkinson's Disease 
