X-linked spinocerebellar ataxia 2 (DOID:0111830)
Alliance: disease page
Synonyms: cerebellar ataxia with extrapyramidal involvement early-onset; SCAX2
Alt IDs: OMIM:302600
Definition: 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.