OBO ID: DOID:0080060
Term Name: autosomal recessive spinocerebellar ataxia 12 Search Ontology:
Synonyms:
  • SCAR12
Definition: An autosomal recessive cerebellar ataxia that is characterized by onset of generalized seizures in infancy, delayed psychomotor development with mental retardation, and cerebellar ataxia and that has_material_basis_in homozygous mutation in the WWOX gene on chromosome 16q23. https://www.ncbi.nlm.nih.gov/pubmed/24369382
References:
Ontology: Human Disease   ( DOID:0080060 )
OTHER autosomal recessive spinocerebellar ataxia 12 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
WWOX Spinocerebellar ataxia, autosomal recessive 12 614322
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None