Börjeson-Forssman-Lehmann syndrome

Last revised by Yuranga Weerakkody on 8 Aug 2019

Börjeson-Forssman-Lehmann syndrome (BFLS) is an extremely rare disorder characterized by

  • intellectual disability
  • obesity
  • seizures
  • gonadal failure (testes in males or the ovaries in females) to produce hormones (hypogonadism)
  • distinctive facial features.

Affected infants tend to experience delays in reaching developmental milestones.



It carries an x linked recessive inheritance with mutations in the PHF6 gene.



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