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Noonan syndrome
Pronunciation
Definition 1
A genetic disorder marked by unusual facial features, being shorter than normal, learning problems, heart defects, problems with blood clotting, defects in the skeleton, and fertility problems in males. (NCI Dictionary)
Definition 2
A genetic syndrome caused by mutations in the PTPN11 gene (over 50% of the cases) or less frequently mutations in the SOS1, RAF1, or KRAS genes. It is characterized by short stature, webbed neck, hypertelorism, low-set ears, deafness, and thrombocytopenia or abnormal platelet function. (NCI Thesaurus)
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