Term Name: | X-linked spinocerebellar ataxia 5 |
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Synonyms: | SCAX5, Spinocerebellar Ataxia, X-Linked 5, X-linked non progressive cerebellar ataxia |
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. |
Ontology: | Human Disease [DOID:0111833] ( DOID:0111833 ) |