NR0B1 and CHARGE syndrome: A novel deletion in CHD7 was detected in DSD04, in addition to the identification of a frame-shift mutation in SRY and a nonsense mutation in NR0B1. Autosomal dominant inheritance of truncated mutations in CHD7 have been known to cause CHARGE syndrome [22], which is difficult to diagnose from phenotypes because of the high heterogeneity with other conditions.