Heterozygous loss-of-function variants in EFTUD2 are associated with mandibulofacial dysostosis with microcephaly (MIM#610,536); however, this 23-year-old female never had microcephaly, cognitive impairment, or mandibulofacial dysostosis on examination. This evidence concerns the gene EFTUD2 and mandibulofacial dysostosis.