{{Rsnum
|rsid=312262890
|Chromosome=X
|Orientation=plus
|geno1=(-;-)
|geno2=(-;AAGA)
|geno3=(AAGA;AAGA)
|Gene=OFD1
|position=13760586
|Gene_s=OFD1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=GAAGA
|CHROM=X
|CLNACC=RCV000012299.13; RCV000033991.2
|CLNALLE=1
|CLNDBN=Simpson-Golabi-Behmel syndrome, type 2; Oral-facial-digital syndrome
|CLNDSDB=MedGen:OMIM:Orphanet; GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=C1846175:300209:79022; NBK1188:C1510460:311200:2750:52868006
|CLNHGVS=NC_000023.10:g.13778702_13778705dupAAGA
|CLNSIG=5
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNSRCID=NBK1188; 300170.0007
|Disease=Simpson-Golabi-Behmel syndrome; Oral-facial-digital syndrome
|FwdALT=AAGA
|REF=G
|RSPOS=13778701
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;PMC;SLO;OTHERKG;LSD;OM
|VC=DIV
|VP=0x050168000000000002110200
|WGT=0
|dbSNPBuildID=137
|rsid=312262890
|GENEINFO=OFD1:8481
|GENE_ID=8481
|GENE_NAME=OFD1
}}{{PMID Auto
|PMID=16783569
|Title=A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome.
}}