OBO ID: DOID:0080062
Term Name: autosomal recessive spinocerebellar ataxia 13 Search Ontology:
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 )
OTHER autosomal recessive spinocerebellar ataxia 13 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GRM1 Spinocerebellar ataxia, autosomal recessive 13 614831
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None