A de novo microduplication spanning 723 Kb on chromosome 3q29 was identified to be associated with HFM (Guida et al., 2015); in the microduplicated region 9 genes were mapped, including ATP13A3 and XXYLT1 which are respectively known for their role in organogenesis and in Notch pathway regulation. The gene discussed is ATP13A3; the disease is craniofacial microsomia.