Condition: Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate


rs387906877 in EFTUD2 gene and Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate PMID 22305528 2012 Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly.