It is genetically heterogeneous caused by heterozygous mutation in MLL2 (now called KMT2D gene) on chromosome 12q13, causing Kabuk-1 with autosomal dominant (AD) inheritance, and the KDM6A gene on chromosome Xp11.3 causing Kabuki-2 with X-linked dominant inheritance. This evidence concerns the gene KDM6A and Alzheimer disease.