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Metadata
ID DOID:0050965
Name spinocerebellar ataxia type 15
Definition An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, nystagmus, dysarthria and dysphagia, has_material_basis_in mutation in the ITPR1 gene.
https://rarediseases.info.nih.gov/diseases/10477/spinocerebellar-ataxia-15
Xrefs

OMIM:606658

Alternateids

DOID:0050966

Synonyms

spinocerebellar ataxia type 16 [EXACT]

Parent Relationships

is_a autosomal dominant cerebellar ataxia

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