spinocerebellar ataxia type 29

Term ID

DOID:0050978

Synonyms

Definition

An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, intellectual disability, dysarthria and ophthalmoplegia, and has_material_basis_in mutation in the ITPR1 gene. https://rarediseases.info.nih.gov/diseases/10480/spinocerebellar-ataxia-29

References

• OMIM:117360

Ontology

Human Disease   ( DOID:0050978 )