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Human Disease

EAST syndrome

Term ID
DOID:0060484
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. (3)
References
Ontology
Human Disease   ( DOID:0060484 )
Relationships
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Genes Involved
Zebrafish Models