Whole-exome sequencing of the six individuals with clinically suspected CdLS identified six variants in KMT2A, KMT2D (NM_003482.3), ANKRD11 (NM_013275.4), KDM6A (NM_021140.2), and UBE2A (NM_003336.2) (Table 1). The gene discussed is KMT2A; the disease is Cornelia de Lange syndrome.