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Summary Literature (0)
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 : tubb2b, ca8, vldlr, atp8a2, wdr81

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0009133 - cerebellar ataxia, intellectual disability, and dysequilibrium


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), autosomal recessive disease (is_a), syndrome (is_a)