The MMC child, born from Caucasian non-related parents, was diagnosed with a lumbosacral NTD and carries a paternally inherited 14q22.1-2 deletion that involves FERMT2, DDHD1, BMP4, DKN3, and CNIH. BMP4 deletions have been associated with variable defects of the eyes, palate, limbs, and brain and with developmental and growth delay but not with NTDs [30, 31]. Here, DDHD1 is linked to neural tube defect.