Although hundreds of NTD‐associated genes have been reported in animal studies, there is very little genetic evidence of these genes linking to NTD in humans, leaving a gap between animal models and human genetics of NTD.[2, 51, 52] However, Pak2−/− mouse embryos, human fetuses carrying PAK2 mutations, and pak2aΔ14 zebrafish embryos shared similarities in phenotypes. This evidence concerns the gene PAK2 and neural tube defect.