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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.
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0080066
OMIM:616354
Orphanet:397709
UMLS:C4225355
MONDO:0014601
High level summary of knowledge for a disease, including descriptions and datasource references.