X-linked spinocerebellar ataxia 5 (DOID:0111833)
Alliance: disease page
Synonyms: SCAX5; Spinocerebellar Ataxia, X-Linked 5; X-linked non progressive cerebellar ataxia
Alt IDs: OMIM:300703, MESH:C567478, ORDO:314978, UMLS_CUI:C2678048
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.