Cornelia de Lange syndrome (CdLS) is the most prominent cohesinopathy and arises from heterozygous mutations, usually in the gene encoding cohesin regulator NIPBL, but sometimes in genes encoding the core mitotic-specific subunits of cohesin (RAD21, SMC3 and SMC1A) and the SMC3 deacetylase HDCA8 [85]. Here, NIPBL is linked to Cornelia de Lange syndrome.