Summary Literature (0)

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 : camta1

Mondo Disease Ontology (on Monarch Initiative):

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

MIM:

MIM:614756 - CEREBELLAR DYSFUNCTION WITH VARIABLE COGNITIVE AND BEHAVIORAL ABNORMALITIES; CECBA

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

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