Two other genes, BRD4 which encodes a protein interacting with NIPBL (Olley et al., 2018) and ANKRD11 (Parenti et al., 2016), have been implicated in non-classic CDLS phenotype, and variants in genes, functionally linked to cohesin, such as AFF4 (Izumi et al., 2015), have been identified in individuals sharing limited signs of CDLS (Kline et al., 2018). Here, NIPBL is linked to Cornelia de Lange syndrome.