/EAST syndrome

EAST syndrome

Rare Disease

MONDO:0013005

Also Known As

EAST syndromeepilepsy, ataxia, sensorineural deafness and tubulopathyseizures, sensorineural deafness, ataxia, intellectual disability and electrolyte imbalanceseizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalanceseizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndromesesame syndromeSESAMESepilepsy, ataxia, sensorineural deafness, and tubulopathyseizures - sensorineural deafness - ataxia - intellectual disability - electrolyte imbalanceseizures, sensorineural deafness, ataxia, intellectual disability, and electrolyte imbalanceseizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance

Definition

SeSAME syndrome is characterized by seizures, sensorineural deafness, ataxia, intellectual deficit, and electrolyte imbalance (hypokalemia, metabolic alkalosis, and hypomagnesemia).