Metadata | |
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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 |
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