Börjeson-Forssman-Lehmann syndrome (BFLS) is an extremely rare disorder characterized by
- intellectual disability
- 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.
- 1. https://www.ncbi.nlm.nih.gov/pubmed/28237832
- 2. https://www.ncbi.nlm.nih.gov/pubmed/24092917