cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1

Summary

DOID:0070556 - cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1

Disease Ontology Definition:A cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the VLDLR gene, which encodes the very low density lipoprotein receptor, on chromosome 9p24.2.

Synonyms: CAMRQ syndrome 1, CAMRQ1, cerebellar ataxia and mental retardation with or without quadrupedal locomotion 1, cerebellar ataxia, mental retardation, and disequilibrium syndrome 1, cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1, cerebellar hypoplasia, VLDLR-associated, DES-VLDLR, dysequilibrium syndrome-VLDLR, VLDLR cerebellar hypoplasia, VLDLR-associated cerebellar hypoplasia, VLDLR-CH

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

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

Parent(s): cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome (is_a)