NR2F2 related multiple congenital anomalies/dysmorphic syndrome

NR2F2 related multiple congenital anomalies/dysmorphic syndrome

Definition

A heart disease that is present at birth. Representative examples include atrial, ventricular, and atrioventricular septal defects, double-outlet right ventricle, tetralogy of Fallot, hypoplastic left heart syndrome, aortic stenosis, and coarctation of the aorta.

Also known as ARP1-related multiple congenital anomalies/dysmorphic syndrome, COUPTFII-related multiple congenital anomalies/dysmorphic syndrome, NR2F2 related multiple congenital anomalies/dysmorphic syndrome, TCOUP2-related multiple congenital anomalies/dysmorphic syndrome — per MONDO