A heterozygous 5-bp deletion in IVS 12 (c.1058 + 3_1058 + 7del) of EFTUD2 was initially reported as a causal variant in a subject with craniofacial anomaly, esophageal atresia, congenital cardiac defect, and microtia [23]. Here, EFTUD2 is linked to Esophageal atresia.