Börjeson–Forssman–Lehmann syndrome

Also known as: BFLS

X-linked intellectual disability with obesity and hypogonadism.

Medical specialty: Endocrinology
Subspecialty: Endocrinology / Pediatric endocrinology
Sex & age distribution: Male: affected; Female: carriers mild; Children: yes, infancy
Gene(s) involved: PHF6

Etiology & mechanism

PHF6 variants.

Gene(s) involved (1)

PHF6

Symptoms & signs (8)

coarse faciesepilepsygynecomastiahypogonadismintellectual disabilitylarge earsobesityshort stature

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