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