Metadata | |
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ID | DOID:0050986 |
Name | spinocerebellar ataxia type 40 |
Definition | An autosomal dominant cerebellar ataxia that is characterized by progressive gait abnormalities, dysarthria, tremor and hyporeflexia, has_material_basis_in mutation in the CCDC88C gene. https://www.omim.org/entry/616053 |
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