CHARGE syndrome, due to a heterozygous mutation of CHD7 in humans, has extensive phenotypic overlap with Kabuki syndrome, caused by mutation of MLL4 (also known as KMT2D and MLL2) and UTX (also known as KDM6A) (Butcher et al., 2017, Miyake et al., 2013, Ng et al., 2010, Schulz et al., 2014a). The gene discussed is KDM6A; the disease is Kabuki syndrome.