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spinocerebellar ataxia type 42

Disease Summary
Associated Targets (1)
Tclin

1


Uniprot Description A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA42 is a slowly progressive, autosomal dominant form with variable severity.
Mondo Term and Equivalent IDs
MONDO:0014776:  spinocerebellar ataxia type 42
DOID:0111742: 
EFO:0009059: 
NCIT:C171269: 
Orphanet:458803: 
UMLS:C4225205: