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Genetic and Rare Diseases Information Center (GARD)

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Borjeson-Forssman-Lehmann syndrome

Other Names for this Disease
  • BFLS
  • BORJ
  • Borjeson Syndrome
  • Mental deficiency, epilepsy and endocrine disorders
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Borjeson-Forssman-Lehmann syndrome (BFLS) is a genetic condition characterized by intellectual disability, obesity, seizures, hypogonadism, developmental delay and distinctive facial features. These symptoms are variable, even among members of the same family. BFLS is caused by mutations in the PHF6 gene on the X chromosome. This mutation is usually transmitted as an X-linked recessive trait, which means the disorder is fully expressed predominantly in males.[1]
Last updated: 10/20/2011


  1. Gecz J. Borjeson-Forssman-Lehman Syndrome. National Organization for Rare Disorders (NORD). 2007; Accessed 10/20/2011.
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Basic Information

  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Borjeson-Forssman-Lehmann syndrome. Click on the link to view a sample search on this topic.