PHF6 and Borjeson-Forssman-Lehmann syndrome: Börjeson-Forssman-Lehmann syndrome (BFLS, MIM #301900), caused by mutations or deletions in PHF6[18] shares facial characteristics with X-linked ID type Nascimento (especially prominent supraorbital ridges, prominent columella and hypoplastic alae nasi and coarsening of facial features during adolescence) as well as intellectual disability and small external genitalia in boys.