EFTUD2 and mandibulofacial dysostosis-microcephaly syndrome: In a child with MFDM, Kim et al (43) identified a novel splice donor site variant, c.271+1G>A in EFTUD2. Minigene assays demonstrated that this variant led to the erroneous integration of a 118 bp fragment from Intervening Sequence 3 (IVS3) of EFTUD2 in the c.271+1G>A variant clones.