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East syndrome
SeSAME syndrome is characterized by seizures, sensorineural deafness, ataxia, intellectual deficit, and electrolyte imbalance (hypokalemia, metabolic alkalosis, and hypomagnesemia)
Pronunciation
/ist ˈsɪnˌdroʊm/
/iːst ˈsɪndrəʊm/
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tubulopathy
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cerebral degeneration
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genetic disease
rare disease