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autosomal recessive spinocerebellar ataxia 11

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any autosomal recessive syndromic cerebellar ataxia in which the cause of the disease is a mutation in the SYT14 gene.
Uniprot Description Spinocerebellar ataxia is 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. SCAR11 is associated with psychomotor retardation.
Mondo Term and Equivalent IDs
MONDO:0013645:  autosomal recessive spinocerebellar ataxia 11
Orphanet:284271: 
UMLS:C3280226: