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spinocerebellar ataxia type 40
Summary
- 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.
- Super Class
- autosomal dominant cerebellar ataxia
External Links
- Disease Ontology
- DOID:0050986
- Mondo Disease Ontology
- OMIM
