Summary Literature (0)

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

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

Synonyms: CAMRQ,

Echinobase Genes : wdr81, ca8


OMIM:

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: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

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