Including the 11 patients described in this study, a total of 43 individuals with CdLS somatic mosaicism were identified and classified according to the affected gene: 38 NIPBL, 2 SMC1A, 1 SMC3, 1 ANKRD11 and 1 KMT2A (Supplementary Table 1). The gene discussed is ANKRD11; the disease is Cornelia de Lange syndrome.