EFTUD2 and mandibulofacial dysostosis: By WES, a novel de novo frameshift EFTUD2 gene variant (c.1030_1031delTG, p.Trp344fs*2) was found in the first Chinese mandibulofacial dysostosis, Guion-Almeida type (MFDGA; MIM #610536) patient with distinctive facial features, including arched eyebrows, broad nasal bridge, everted lips and micrognathia, low-set ears and external auditory canal stenosis, mild intellectual disability, and developmental delay.