Genetic analysis for the previously undiagnosed 16 EA cases identified 8 pathogenic or likely pathogenic mutations (n = 8/16; 50%) in 8 genes (SCN2A, p.Val1325Phe; ATP1A3, p.Arg756His; PEX7, p.Tyr40Ter; and KCNA1, p.Arg167Met; CLCN1, p.Gly945ArgfsX39; CACNA1E, p.Ile614Val; SCN1B, p.Cys121Trp; and SCN9A, p.Tyr1217Ter) (Table 2). The gene discussed is PEX7; the disease is Esophageal atresia.