Although the number of NTD sub-phenotype cases is too few to draw strong inferences, it is interesting that lumbar sacral spina bifida occulta was related to PDVRs in LEPR gene (2/13 vs. 0/225, P = 0.0037), whereas PDRVs in LEPR were not associated with lumbar sacral spina bifida aperta. Here, LEPR is linked to neural tube defect.