EFTUD2 and Craniofacial dysostosis: A further WES test detected only one novel heterozygous out-of-frame deletion (c.1030_1031delTG, p.Trp344fs*2) in the EFTUD2 gene (OMIM 610536), which was associated with developmental delay and craniofacial dysostosis in a biological context among 23 candidate genes by cascading filters through the Ingenuity tool, such as allele frequency below 0.01 from the available databases of 1000 Genomes, the NHLBI GO Exome Sequencing Project, and dbSNP (Fig. 2a, b and Additional file 1: Table S1).