OBO ID: DOID:0060484
Term Name: EAST syndrome Search Ontology:
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)
OTHER EAST syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
KCNJ10 SESAME syndrome 612780
PHENOTYPE No data available

CITATIONS (2)