autosomal recessive spinocerebellar ataxia 20

Summary

DOID:0080066 - autosomal recessive spinocerebellar ataxia 20

Disease Ontology Definition:An autosomal recessive cerebellar ataxia that is characterized by severely delayed psychomotor development with poor or absent speech, wide-based or absent gait, coarse facies, and cerebellar atrophy and that has_material_basis_in homozygous mutation in the SNX14 gene on chromosome 6q14.

Synonyms: SCAR20

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

: snx14

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014601 - autosomal recessive spinocerebellar ataxia 20

MONDO:0014601 - autosomal recessive spinocerebellar ataxia 20

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)