{{Rsnum
|rsid=387906877
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=EFTUD2
|position=44876019
|Gene_s=EFTUD2
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Chromosome=17
}}{{ClinVar
|ALT=A
|CHROM=17
|CLNACC=RCV000023353.2
|CLNALLE=1
|CLNDBN=Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C1864652:610536:79113
|CLNHGVS=NC_000017.10:g.42953387G>A
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=603892.0001
|Disease=Growth and mental retardation
|FwdALT=T
|FwdREF=C
|REF=G
|RSPOS=42953387
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000002110100
|WGT=0
|dbSNPBuildID=137
|rsid=387906877
|GENEINFO=EFTUD2:9343
|GENE_ID=9343
|GENE_NAME=EFTUD2
}}