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, Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 (CAMRQ1), DES, disequilibrium syndrome, dysequilibrium syndrome, Uner Tan syndrome, UTS, VLDLR Cerebellar Hypoplasia

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