KMT2D and Kabuki syndrome: A missense mutation in the amine oxidase domain of KDM1A has been reported in patients exhibiting mixed features of Kabuki syndrome (KABUK1) and KBG syndrome (KBGS; OMIM 148050), both of which are characterized by macrodontia, distinct craniofacial features, and IDD (Tunovic et al., 2014).