" /> Noonan syndrome 4 - CISMeF





Preferred Label : Noonan syndrome 4;

Symbol : NS4;

CISMeF acronym : NS4;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the SOS Ras/Rac guanine nucleotide exchange factor 1 gene (SOS1, 182530.0002);

Neoplasia : Multiple giant cell granulomas (bones, joints, soft tissues);

Laboratory abnormalities : Partial deficiency of factor XIII (less common); Partial deficiency of factor XI (less common);

Prefixed ID : #610733;

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29/07/2025


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