spinocerebellar ataxia type 5

Term ID

DOID:0050882

Synonyms

Definition

An autosomal dominant cerebellar ataxia that is characterized by the early-onset of cerebellar signs and eye movement abnormalities with a very slow disease progression, and has_material_basis_in mutation in the SPTBN2 gene. (2)

References

• GARD:4953
• OMIM:600224

Ontology

Human Disease   ( DOID:0050882 )