| Term Name: | EAST syndrome |
|---|---|
| Synonyms: | epilepsy, ataxia, sensorineural deafness and tubulopathy, seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance, SeSAME syndrome |
| 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. |
| Ontology: | Human Disease [DOID:0060484] ( DOID:0060484 ) |