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bn:01582013n

Noun Concept

Categories: Disorders causing seizures, Syndromes affecting the kidneys, Autosomal recessive disorders, Rare diseases, Kidney diseases

EAST syndrome Epilepsy, Ataxia, Sensorineural Deafness, and Tubulopathy epilepsy, ataxia, sensorineural deafness and tubulopathy SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE; SESAMES

EAST syndrome is a syndrome consisting of epilepsy, ataxia, sensorineural deafness and salt-wasting renal tubulopathy. Wikipedia

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EAST syndrome is a syndrome consisting of epilepsy, ataxia, sensorineural deafness and salt-wasting renal tubulopathy. Wikipedia

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. Wikidata

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GENETIC ASSOCIATION

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EAST syndrome

Wikidata

EAST syndrome

Wikidata Alias

East Syndrome, Epilepsy, Ataxia, Sensorineural Deafness, and Tubulopathy, epilepsy, ataxia, sensorineural deafness and tubulopathy, SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE, SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE; SESAMES, seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance, Seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome, SeSAME syndrome, SESAMES