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). This evidence concerns the gene CHD7 and CHARGE syndrome.