" /> Smith-kingsmore syndrome - CISMeF





Preferred Label : Smith-kingsmore syndrome;

Symbol : SKS;

CISMeF acronym : SKS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Macrocephaly, seizures, mental retardation, umbilical hernia, and facial dysmorphism; Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome; Minds syndrome;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the mechanistic target of rapamycin gene (MTOR, 601231.0001);

Laboratory abnormalities : Hypoglycemia;

Prefixed ID : #616638;

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27/07/2025


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