Although this proband (SB542-1014) did show syndromic mandibulofacial anomaly and congenital cardiac defect, molecular diagnosis of the EFTUD2 variant was not made by humans, likely due to the rarity and wide spectrum of the phenotypes of mandibulofacial dysostosis, Guion–Almeida type. This evidence concerns the gene EFTUD2 and mandibulofacial dysostosis.