spinocerebellar ataxia type 11

Term ID

DOID:0050961

Synonyms

Definition

An autosomal dominant cerebellar ataxia that is characterized by ataxia, nystagmus, pyramidal abnormalities and peripheral neuropathy, has_material_basis_in mutation in the TTBK2 gene. https://rarediseases.info.nih.gov/diseases/10475/spinocerebellar-ataxia-11

References

• OMIM:604432

Ontology

Human Disease   ( DOID:0050961 )