| Term Name: | X-linked spinocerebellar ataxia 1 |
|---|---|
| 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 ) |