Researchers reported that esophageal atresia in patients was caused either by deletions in EFTUD2 or novel heterozygous loss-of-function mutations in EFTUD2. These patients presented with severe micrognathia, upper airway obstruction, esophageal atresia, tracheoesophageal fistula and choanal atresia (Table II) (33,35,44,80). Here, EFTUD2 is linked to Esophageal atresia.