BFLS is an X-linked recessive genetic disease caused by mutations in PHF6, a gene that encodes a zinc finger protein involved in cell growth. Point mutations lead to less severe forms of the disease than loss of function mutations or deletions. It is highly expressed during development in the pituitary gland, face, and brain. It occurs primarily in people with XY chromosomes because there is only one copy of the X chromosome present and therefore the only copy of PHF6 is the mutated copy.
Börjeson–Forssman–Lehmann syndrome
Wallis–Zieff–Goldblatt syndrome
Hamman's syndrome
Zieve's syndrome
Ho–Kaufman–Mcalister syndrome
Grinspan's syndrome
Susac's syndrome
Bertolotti's syndrome