" /> Seizures, sensorineural deafness, ataxia, impaired intellectual development, and electrolyte imbalance - CISMeF





Preferred Label : Seizures, sensorineural deafness, ataxia, impaired intellectual development, and electrolyte imbalance;

Symbol : SESAMES;

CISMeF acronym : SESAMES;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Sesame syndrome; East syndrome; Epilepsy, ataxia, sensorineural deafness, and tubulopathy;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the potassium channel, inwardly rectifying, subfamily J, member 10 gene (KCNJ10, 602208.0001);

Laboratory abnormalities : Hypokalemia; Hypomagnesemia; Hypocalciuria; Increased plasma renin; Increased plasma aldosterone;

Prefixed ID : #612780;

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03/05/2025


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