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;
Origin ID : 612780;
UMLS CUI : C2748572;
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
DO Cross reference
Genes related to phenotype
HPO term(s)
Not associated HPO term(s)
ORDO concept(s)
Semantic type(s)
UMLS correspondences (same concept)