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Human Disease
autosomal recessive spinocerebellar ataxia 20
- Term ID
- DOID:0080066
- Synonyms
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- SCAR20
- Definition
- An autosomal recessive cerebellar ataxia that is characterized by severely delayed psychomotor development with poor or absent speech, wide-based or absent gait, coarse facies, and cerebellar atrophy and that has_material_basis_in homozygous mutation in the SNX14 gene on chromosome 6q14. https://www.ncbi.nlm.nih.gov/pubmed/25439728
- References
- Ontology
- Human Disease ( DOID:0080066 )
- is a type of
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Genes Involved
Zebrafish Models