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spinocerebellar ataxia, autosomal recessive 22

Disease Summary
Associated Targets (1)
Tdark

1


Mondo Description Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the VWA3B gene.
Uniprot Description A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR22 patients manifest variable severity of intellectual disability associated with adult-onset cerebellar ataxia.
Mondo Term and Equivalent IDs
MONDO:0014845:  spinocerebellar ataxia, autosomal recessive 22
DOID:0111614: 
UMLS:C4310781: