nonprogressive cerebellar ataxia with mental retardation

Summary

DOID:0050998 - nonprogressive cerebellar ataxia with mental retardation

Disease Ontology Definition:An autosomal dominant cerebellar ataxia that is characterized by early onset of nonprogressive cerebellar ataxia, developmental delay, intellectual impairment and cerebellar atrophy, and has_material_basis_in autosomal dominant inheritance of mutation in the CAMTA1 gene.

Synonyms:

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

: camta1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0013886 - cerebellar dysfunction with variable cognitive and behavioral abnormalities

MONDO:0013886 - cerebellar dysfunction with variable cognitive and behavioral abnormalities

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

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

Parent(s): autosomal dominant cerebellar ataxia (is_a), cerebellar ataxia (is_a)