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

• OMIM:616053

Ontology

Human Disease   ( DOID:0050986 )