Among the six clinical NTD cases with CECR2 variants in our cohort (Table 2), the most common NTD phenotypes were spina bifida and anencephaly (exencephaly), and these patients also exhibited meningoencephalocele, hydrocephalus and other deformities, suggesting that the NTD phenotype associated with CECR2 mutation may be diverse. Here, CECR2 is linked to neural tube defect.