Search Ontology:
Human Disease

autosomal recessive spinocerebellar ataxia 20

Term ID
DOID:0080066
Synonyms
  • 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 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models