Borjeson–Forssman–Lehmann syndrome

Also known as: BFLS

X-linked intellectual disability with obesity and hypogonadism.

Medical specialty: Genetics
Subspecialty: Genetics / Single-gene syndromes
Sex & age distribution: Male: affected, X-linked; Female: carriers; Children: yes
Gene(s) involved: PHF6

Etiology & mechanism

PHF6 mutation.

Gene(s) involved (1)

PHF6

Symptoms & signs (6)

coarse facieshypogonadismintellectual disabilitylarge earsobesityseizures

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.