cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome

Summary

DOID:0050997 - cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome

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

Synonyms: CAMRQ, CAMRQ syndrome, Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 (CAMRQ1), DES, UTS, Uner Tan syndrome, VLDLR Cerebellar Hypoplasia, cerebellar ataxia and mental retardation with or without quadrupedal locomotion, cerebellar ataxia, mental retardation, and disequilibrium syndrome, cerebellar ataxia, mental retardation, and dysequilibrium syndrome, disequilibrium syndrome, dysequilibrium syndrome,

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: 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)