The Börjeson-Forssman-Lehman syndrome (BFLS, MIM #301900)

Eur J Hum Genet. 2006 Dec;14(12):1233-7. doi: 10.1038/sj.ejhg.5201639. Epub 2006 Aug 16.


Börjeson-Forssman-Lehman syndrome was first described in 1962. Many similar families and isolated cases have been reported since. In nineteen of them, including the original family, the clinical diagnosis was confirmed by the identification of a mutation in the responsible gene, PHF6. Summarizing recent clinical and molecular studies of this X-chromosome linked mental retardation syndrome we aim to offer a useful resource for its identification among the affected male and female subjects.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Abnormalities, Multiple / classification
  • Abnormalities, Multiple / genetics*
  • DNA / chemistry
  • DNA / genetics
  • Humans
  • Intellectual Disability / genetics*
  • Sex Chromosome Disorders / genetics*
  • Syndrome


  • DNA