In two different works, patients with Cornelia De Lange syndrome (CdLS1, OMIM #122470; CdLS2, OMIM #300590; CdLS3, OMIM #610759; CdLS4, OMIM #614701; CdLS5, OMIM #300882)-like phenotype were found carriers of pathogenetic variants in KMT2A. The gene discussed is SMC1A; the disease is Cornelia de Lange syndrome.