X-linked spinocerebellar ataxia 1 (DOID:0111829)
Alliance: disease page
Synonyms: SCAX1; X-linked progressive cerebellar ataxia
Alt IDs: OMIM:302500, ORDO:1175
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.