Variant: rs387906877 

    present in Gene: EFTUD2
    present in Chromosome: 17
    Position on Chromosome: 44876019
    Alleles of this Variant: G/A

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.