About half (5) of the ZFPM2 variants we identified have not been previously reported, while the other five variants have been reported in ClinVar in association with congenital heart defects (TOF; MIM# 187500), diaphragmatic hernia (DIH3; MIM# 610187), or 46, XY DSD (SRXY9; MIM# 616067). This evidence concerns the gene ZFPM2 and disorder of sexual differentiation.