Murmur or cyanosis suggestive of congenital heart defects (particularly conotruncal anomalies) is associated with DGS, severe congenital neutropenia (SCN) type 4, CHARGE syndrome, Kabuki Syndrome, and MST1/STK4 deficiency.1, 10, 16, 33. The gene discussed is STK4; the disease is CHARGE syndrome.