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Human Disease

autosomal recessive spinocerebellar ataxia 13

Term ID
DOID:0080062
Synonyms
  • SCAR13
Definition
An autosomal recessive cerebellar ataxia that is characterized by delayed psychomotor development beginning in infancy and that has_material_basis_in homozygous mutation in the GRM1 gene on chromosome 6q24. https://www.ncbi.nlm.nih.gov/pubmed/22901947
References
Ontology
Human Disease   ( DOID:0080062 )
Relationships
is a type of
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Genes Involved
Zebrafish Models