spinocerebellar ataxia type 17

Term ID

DOID:0050967

Synonyms

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

References

• GARD:10469
• OMIM:607136

Ontology

Human Disease   ( DOID:0050967 )