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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), VLDLR Cerebellar Hypoplasia

In OMIM:
OMIM:224050 - CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 1; CAMRQ1
OMIM:610185 - CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2; CAMRQ2
OMIM:613227 - CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 3; CAMRQ3
OMIM:615268 - CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4; CAMRQ4

In Mondo Disease Ontology:
MONDO:0009133 - dysequilibrium syndrome

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : tubb2b, ca8, vldlr, atp8a2, wdr81

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): autosomal recessive cerebellar ataxia (is_a), autosomal recessive disease (is_a), syndrome (is_a)