GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes

Definition

A congenital heart disease that is present at birth. Representative 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, persistent truncus arteriosus, congenital heart disease with pancreatic agenesis, and congenital heart disease with neonatal diabetes.

Also known as GATA6 related congenital heart disease with or without pancreatic agenesis or neonatal diabetes — per MONDO