Only 5 previously reported Chinese CdLS patients underwent gene analysis, and 3 cases were found to be carrying heterozygous mutations in the NIPBL gene, including c.4321G > T in exon 20, c.6589 + 5G> C in intron 38 and c.7176T > A in exon 42 (Yang, Xu, & Wang, 2017; Zhong, Liang, Liu, Xue, & Wu, 2012). Here, NIPBL is linked to Cornelia de Lange syndrome.