Term Name: | EAST syndrome |
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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 ) |