Human genes for X-linked spinocerebellar ataxia 5
X-linked spinocerebellar ataxia 5 [DOID:0111833]
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.
Synonyms: X-linked spinocerebellar ataxia 5, DOID:0111833, Xlinked spinocerebellar ataxia 5, SCAX5, Spinocerebellar Ataxia, X-Linked 5 ...