Term Name: | spinocerebellar ataxia type 40 |
---|---|
Synonyms: | |
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. |
Ontology: | Human Disease [DOID:0050986] ( DOID:0050986 ) |