Human genes for X-linked spinocerebellar ataxia 2
X-linked spinocerebellar ataxia 2 [DOID:0111830]
An X-linked cerebellar ataxia characterized by infantile onset of ataxia, severe atrophy of the cerebellum, diffuse small cysts, pale inferior olives, and gliosis with X-linked inheritance.
Synonyms: X-linked spinocerebellar ataxia 2, DOID:0111830, Xlinked spinocerebellar ataxia 2, cerebellar ataxia with extrapyramidal involvement early-onset, SCAX2 ...