KMT2D and Kabuki syndrome: Another literature review of 1369 individuals with Kabuki syndrome identified microphthalmia/ coloboma in 3% overall [3] and individuals with variants in a specific region of KMT2D were recently found to show overlap with features of CHARGE syndrome, including microphthalmia/coloboma in 22% of those with missense variants in exon 38/39 of KMT2D [23].