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Summary Literature (0)
DOID:0080060 - autosomal recessive spinocerebellar ataxia 12


Disease Ontology 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.

Synonyms: SCAR12,

Xenbase Genes : wwox

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0013687 - autosomal recessive spinocerebellar ataxia 12

OMIM:
OMIM:614322 - SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12; SCAR12

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive cerebellar ataxia (is_a)