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Metadata
ID DOID:0050978
Name spinocerebellar ataxia type 29
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
Xrefs

OMIM:117360

Parent Relationships

is_a autosomal dominant cerebellar ataxia

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