Term Name: | X-linked spinocerebellar ataxia 2 |
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Synonyms: | cerebellar ataxia with extrapyramidal involvement early-onset, SCAX2 |
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. |
Ontology: | Human Disease [DOID:0111830] ( DOID:0111830 ) |