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.