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autosomal recessive spinocerebellar ataxia 20

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the SNX14 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. SCAR20 is characterized by cerebellar atrophy, ataxia, coarsened facial features, severely delayed psychomotor development with poor or absent speech, and intellectual disability.
Mondo Term and Equivalent IDs
MONDO:0014601:  autosomal recessive spinocerebellar ataxia 20
Orphanet:397709: 
UMLS:C4225355: