EAST syndrome (Q5322531)

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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.
  • SeSAME syndrome
  • epilepsy, ataxia, sensorineural deafness and tubulopathy
  • seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance
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English
EAST syndrome
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.
  • SeSAME syndrome
  • epilepsy, ataxia, sensorineural deafness and tubulopathy
  • seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance

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