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Echinobase
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
Parent(s): autosomal recessive cerebellar ataxia (is_a)