|OBO ID: DOID:0060484|
|Term Name:||EAST syndrome||Search Ontology:|
|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. (3)|
|Ontology:||Human Disease (DOID:0060484)|
|is a type of:||
OTHER EAST syndrome PAGES
PHENOTYPE No data available
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