HOXA2 and microtia: Many other genes (Supplementary Table S2) appear to be potentially deregulated by methylation defects, specifically hypomethylation, that may contribute to the phenotype of 22q11.2DS, such as: HOXA2 (promoter region), whose variants are associated with microtia, hearing impairment and cleft palate (OMIM#612290); IRF8 (gene body), associated with immunodeficiency 32B (OMIM#226990); ANKR11D (gene body), responsible for KBG syndrome characterized by hypoplastic alae nasi, short stature, skeletal abnormalities and intellectual disability (OMIM:#148050).