A recent forward genetics screen in patients with congenital anomalies and cytogenetically balanced chromosomal rearrangements identified a critical paracentric microdeletion of the Nr2f1 locus, implicating haploinsufficiency of NR2F1 as a cause for a 4-year-old child’s deafness, dysmorphism and developmental delay [11]. Here, NR2F1 is linked to deafness.