spinocerebellar ataxia type 28

Term ID

DOID:0050977

Synonyms

Definition

An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria, hyperreflexia, ophthalmoparesis, nystagmus and ptosis, and has_material_basis_in mutation in the AFG3L2 gene. https://rarediseases.info.nih.gov/diseases/9951/spinocerebellar-ataxia-28

References

• OMIM:610246

Ontology

Human Disease   ( DOID:0050977 )