KMT2D and CHARGE syndrome: CHARGE syndrome shares several major findings and phenotypic overlap with Mandibulofacial dysostosis, Guion-Almeida type (MFDGA; MIM #610536; ORPHA: 79113) [11, 12] and Kabuki syndrome 1 (KABUK1; MIM #147920; ORPHA: 2322) [13], which are caused by heterozygous variants in EFTUD2 (MIM #603892) and KMT2D (MIM #602113), respectively.