EAST syndrome (DOID:0060484)
Alliance: disease page
Synonyms: epilepsy, ataxia, sensorineural deafness and tubulopathy; seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance; SeSAME syndrome
Alt IDs: OMIM:612780, MESH:C557674, ORDO:199343, UMLS_CUI:C2748572
Definition: A syndrome characterized by seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance and has_material_basis_in homozygous or compound heterozygous mutation in the KCNJ10 gene on chromosome 1q23.