X-linked spinocerebellar ataxia 2

Term ID

DOID:0111830

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. https://www.ncbi.nlm.nih.gov/pubmed/13541590

References

• GARD:9978
• MIM:302600

Ontology

Human Disease   ( DOID:0111830 )