GenTIGSA Gene Database on Rare Genetic Disorders

Lists of Rare Genetic Disorders  

Borjeson-Forssman-Lehmann Syndrome(Borjeson-Forssman-Lehmann syndrome, X-linked recessive)      Explore Disorder's Alias
An X-linked recessive mode(s) within the Neurodevelopmental disorders category
Reported Pathogenic variants
Candidate Gene Information
S.No. Name/GeneID Description Cytogentic Band Gene Location on genomic DNA Gene Length Exons Details Gene Cross-References
1 PHF6/84295 PHD finger protein 6 Xq26.2 ChrX, NC_000023.11
(134373312..134428790)
55479 nt 10 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

Variant Information    
Disorder Cross-References:      Orphanet          OMIM          GARD          GTR          MedGen          MalaCards          EMBL-EBI OLS    Monarch Initiative          NORD     

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Clinical Symptoms & Disabilities