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EAST syndrome

Disease Summary
Associated Targets (2)
Tbio

2


GARD Rare
Mondo Description SeSAME syndrome is characterized by seizures, sensorineural deafness, ataxia, intellectual deficit, and electrolyte imbalance (hypokalemia, metabolic alkalosis, and hypomagnesemia).
Uniprot Description A complex disorder characterized by generalized seizures with onset in infancy, delayed psychomotor development, ataxia, sensorineural hearing loss, hypokalemia, metabolic alkalosis, and hypomagnesemia.
Disease Ontology Description A syndrome characterize by seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance. It has material basis in homozygous or compound heterozygous mutation in the KCNJ10 gene on chromosome 1q23.
Mondo Term and Equivalent IDs
MONDO:0013005:  EAST syndrome
GARD:0010514: 
MESH:C557674: 
Orphanet:199343: 
SCTID:721207002: 
UMLS:C2748572: