Summary Literature (0)

DOID:0060484 - EAST syndrome

Disease Ontology Definition:A syndrome characterize by seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance. It has material basis in homozygous or compound heterozygous mutation in the KCNJ10 gene on chromosome 1q23.

Synonyms: SeSAME syndrome, epilepsy, ataxia, sensorineural deafness and tubulopathy, seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance,

Echinobase Genes :


OMIM:

MIM:612780 - seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance; sesames

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

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