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Human Disease

spinocerebellar ataxia type 40

Term ID
DOID:0050986
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. https://www.omim.org/entry/616053
References
Ontology
Human Disease   ( DOID:0050986 )
Relationships
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Genes Involved
Zebrafish Models