For example, mutations in KMT2A (MLL1) are associated with Wiedemann-Steiner syndrome, KMT2C (MLL3) with Kleefstra syndrome spectrum (Kleefstra et al., 2012; Frega et al., 2020), whereas KMT2D (MLL4, in humans, also called MLL2) mutations lead to Kabuki Syndrome 1 (Min Ko et al., 2017; Sobreira et al., 2017; Sun et al., 2017). The gene discussed is KMT2A; the disease is Kabuki syndrome.