autosomal recessive spinocerebellar ataxia 12

Summary

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 Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: wwox

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0013687 - pericranium

MONDO:0013687 - pericranium

MIM:

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

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

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive cerebellar ataxia (is_a)