We selected five NIPBL pathogenic variants carried by patients with a typical CdLS phenotype based on the national recruitment of our molecular genetics lab in Rouen, France, namely, c.133C > T p.(Arg45∗) in exon 3, c.2500C > T p.(Arg834∗) in exon 10, c.4396dup p.(Ser1466Lysfs∗13) in exon 20, c.6470A > G, p.(Asp2157Gly) in exon 37, and (c.6892C > T (p.Arg2298Cys) in exon s40 (Fig. S1). Here, NIPBL is linked to Cornelia de Lange syndrome.