cerebellar ataxia, mental retardation and dysequlibrium syndrome

Summary

DOID:0050997 - cerebellar ataxia, mental retardation and dysequlibrium syndrome

Disease Ontology Definition:An syndrome characterized by congenital onset of nonprogressive cerebellar ataxia, disturbed equilibrium, and mental retardation, associated with cerebellar hypoplasia.

Synonyms: CAMRQ, Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 (CAMRQ1), Uner Tan syndrome, VLDLR Cerebellar Hypoplasia,

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

: tubb2b, ca8, vldlr, atp8a2, wdr81

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0009133 - cerebellar ataxia, intellectual disability, and dysequilibrium

MONDO:0009133 - cerebellar ataxia, intellectual disability, and dysequilibrium

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

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

Parent(s): autosomal recessive cerebellar ataxia (is_a), autosomal recessive disease (is_a), syndrome (is_a)