GATA6-related congenital heart disease with or without pancreatic hypoplasia or diabetes

A congenital heart disease caused by a variation in the GATA6 gene, occurring with or without other syndromic features including pancreatic hypoplasia or agenesis and diabetes. Representative cardiac examples include atrial septal defect 9, conotruncal heart malformations, tetralogy of Fallot, ventricular septal defect, atrioventricular septal defect, bicuspid aortic valve, transposition of the great arteries, and persistent truncus arteriosus.