The PTPN11 c.417G>C (p.E139D) variant was discovered in proband 5 in family 5, a 2-year-old male suffering from ASD, PFO, and patent ductus arteriosus (PDA), as well as craniofacial dysmorphism and chest deformity, a Noonan syndrome. The gene discussed is PTPN11; the disease is Noonan syndrome.