Summary Literature (0)

DOID:0111613 - autosomal recessive spinocerebellar ataxia 23

Disease Ontology Definition:An autosomal recessive cerebellar ataxia characterized by epilepsy, intellectual disability, and gait ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the TDP2 gene on chromosome 6p22.3.

Synonyms: autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency, SCAR23

Xenbase Genes : tdp2


MIM:

MIM:616949 - SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 23; SCAR23

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

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