Heterozygous loss-of-function mutations in
EFTUD2 cause
Mandibulofacial Dysostosis with Microcephaly (
MFDM; OMIM #610536), a multiple malformation syndrome comprising progressive microcephaly (present in all affected individuals), craniofacial skeletal anomalies, cleft palate, deafness, choanal atresia, small stature, and/or cardiac and thumb anomalies. == Interactions ==