The pathogenic variants MITF (MIM 156845) c.328C > T7, 8 (Waardenburg syndrome type II; MIM 193510), SOX10 (Kallmann syndrome) c.481C > T9, CHD7 (MIM 608892) c.5050G > A9, 10, 11, 12 (CHARGE syndrome; MIM 214800 and Kallmann syndrome; MIM 612370), PTPN11 (MIM 176876) c.1492C > T13, 14, 15, 16 (LEOPARD syndrome; MIM 151100), and KMT2D (MIM 602113) c.13259G > A17 (Kabuki syndrome; MIM 147920) had all been previously reported in patients with syndromic findings. The gene discussed is KMT2D; the disease is Kabuki syndrome.