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

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

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0009133 - pleuroperitoneal membrane

MIM:
MIM:224050 - CEREBELLAR ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSEQUILIBRIUM SYNDROME 1; CAMRQ1
MIM:610185 - CEREBELLAR ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSEQUILIBRIUM SYNDROME 2; CAMRQ2
MIM:613227 - SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 34; SCAR34
MIM:615268 - CEREBELLAR ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSEQUILIBRIUM SYNDROME 4; CAMRQ4

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)