oFallot (TOF) [MIM:187500]. A congenital heart anomaly which consists of pulmonary stenosis, ventricular septal defect, dextroposition of the aorta (aorta is on the right side instead of the left) and hypertrophy of the right ventricle. In this condition, blood from both ventricles (oxygen-rich and oxygen-poor) is pumped into the body often causing cyanosis. Defects in GATA6 are the cause of atrioventricular septal defect type 5 (AVSD5) [MIM:614474]. A congenital heart malformation characterized by a common atrioventricular junction coexisting with deficient atrioventricular septation. The complete form involves underdevelopment of the lower part of the atrial septum and the upper part of the ventricular septum; the valve itself is also shared. A less severe form, known as ostium primum atrial septal defect, is characterized by separate atrioventricular valvar orifices despite a common junction. Defects in GATA6 are a cause of pancreatic agenesis and congenital heart defects (PACHD) [MIM:600001]. An autosomal dominant disease characterized by pancreatic severe hypoplasia