We report a heterozygous variant NID1 (NM_002508.3):c.2204G>A (p.Arg735His), which has been previously identified as pathogenic in a patient with neural tube defects [42]; however, the minor allele frequency was too high to enable us to term this as a variant of interest, although it may warrant further investigation (note that this has been reported here for completeness). Here, NID1 is linked to neural tube defect.