AD and AR were the most common pattern of inheritance (Fig. 1A), and the most frequent variant genes were SLC4A1 and KMT2D, which can, respectively, lead to the two most frequent diseases: dRTA (with inclusion of SLC4A1, ATP6V1B1, and ATP6VOA4 genes) and Kabuki syndrome. This evidence concerns the gene ATP6V1B1 and Kabuki syndrome.