Summary Literature (0)

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 and mental retardation with or without quadrupedal locomotion, cerebellar ataxia, mental retardation, and disequilibrium syndrome, cerebellar ataxia, mental retardation, and dysequilibrium syndrome, DES, disequilibrium syndrome, dysequilibrium syndrome, Uner Tan syndrome, UTS

Echinobase Genes : wdr81, ca8


MIM:

MIM:224050 - cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1; camrq1

MIM:610185 - cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2; camrq2

MIM:613227 - cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3; camrq3

MIM:615268 - cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4; camrq4

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

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