Ata's genome also contained previously reported variants (rs41298151, p.Gly465Ala) in FREM1 and FLNB (rs1131356, p.Asp1157Asn), which are associated with congenital diaphragmatic hernia (Walczak-Sztulpa et al. 2010), a relatively common, life-threatening birth defect in which the diaphragm does not develop properly (Supplemental Table S6; Stenson et al. 2014). The gene discussed is FLNB; the disease is congenital diaphragmatic hernia.