Even so, pathogenic or likely pathogenic variants in four NTD cases were identified, including Trisomy 18, 7q36.1q36.3 deletion, 4q31.3q32.1 deletion, and homozygous nonsense c.4333C > T(p.Arg1445*) in CC2D2A causing Meckel Grubel syndrome in P1279. This evidence concerns the gene CC2D2A and neural tube defect.