spinocerebellar ataxia type 31

Term ID

DOID:0050980

Synonyms

Definition

An autosomal dominant cerebellar ataxia that is characterized by late-onset ataxia, dysarthria and horizontal nystagmus, has_material_basis_in repeat expansion mutation in the BEAN1 gene. https://rarediseases.info.nih.gov/diseases/9975/spinocerebellar-ataxia-31

References

• OMIM:117210

Ontology

Human Disease   ( DOID:0050980 )