Noonan Syndrome

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Noonan Syndrome Definition

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.

Noonan Syndrome Synonyms

Noonan Syndrome

Terms in Noonan Syndrome category

Noonan Syndrome 1