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Metadata
DOID DOID:0050967
Name spinocerebellar ataxia type 17
Definition An autosomal dominant cerebellar ataxia that is characterized by chorea, dementia, dystonia, spasiticity and seizure, has_material_basis_in CAG repeat expansion in the TBP gene.
https://rarediseases.info.nih.gov/diseases/10469/spinocerebellar-ataxia-17
Xrefs

GARD:10469

OMIM:607136

Relationships

is_a autosomal dominant cerebellar ataxia

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