KDM6A and Kabuki syndrome: Most diagnostic variants were exonic sequence-level variants (Table 1).53,57,58,59,60,61,62,63 A maternally inherited single-exon duplication in the X chromosome gene KDM6A (OMIM 300128) causing Kabuki syndrome in CMC 16 was not detected by CMA, ES, or an initial multiplex ligation-dependent probe amplification test of that gene.