Metadata | |
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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 | |
Alternateids |
DOID:0050966 |
Synonyms |
spinocerebellar ataxia type 16 [EXACT] |
Parent Relationships |