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| Term | X-linked spinocerebellar ataxia 5 | ID (Ontology) | DOID:0111833 (Human Disease) |
| Definition | An X-linked cerebellar ataxia characterized by neonatal hypotonia, delayed motor development, nonprogressive ataxia, nystagmus, and dysarthria that has_material_basis_in hemizygous mutation in region of chromosome Xq25-q27.1. | ||
| Also Known As | "SCAX5" ; "Spinocerebellar Ataxia, X-Linked 5" ; "X-linked non progressive cerebellar ataxia" | ||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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X-linked monogenic disease |__X-linked recessive disease__ X-linked hereditary ataxia | |__X-linked cerebellar ataxia__| X-linked spinocerebellar ataxia 5 |
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X-linked recessive disease X-linked cerebellar ataxia |
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MESH:C567478 MIM:300703 ORDO:314978 UMLS_CUI:C2678048 |
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