Term Name: | X-linked spinocerebellar ataxia 1 |
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Synonyms: | SCAX1, X-linked progressive cerebellar ataxia |
Definition: | An X-linked cerebellar ataxia characterized by hypotonia at birth, delayed motor development, gait ataxia, difficulty standing, dysarthria, and slow eye movements that has_material_basis_in hemizygous mutation in the ATP2B3 gene on chromosome Xq28. |
Ontology: | Human Disease [DOID:0111829] ( DOID:0111829 ) |