Endocrinology · Endocrinology / Pediatric endocrinology
Börjeson–Forssman–Lehmann syndrome
also: BFLS
X-linked intellectual disability with obesity and hypogonadism.
- Specialty
- Endocrinology
- Subspecialty
- Endocrinology / Pediatric endocrinology
- Sex & age distribution
- Male: affected; Female: carriers mild; Children: yes, infancy
- Gene(s) involved
- PHF6
- Alternative names & eponyms
- BFLS
Etiology & mechanism
PHF6 variants.
Gene(s) involved (1)
Symptoms & signs (8)
In plain terms, someone with Börjeson–Forssman–Lehmann syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
Drag nodes, scroll to zoom, click a node to open that syndrome.
Shares symptoms with
5 shared
Borjeson–Forssman–Lehmann syndrome
coarse facies, hypogonadism, intellectual disability, large ears, obesity
4 shared
Prader–Willi syndrome
hypogonadism, intellectual disability, obesity, short stature
3 shared
Coffin–Lowry syndrome
coarse facies, intellectual disability, short stature
3 shared
Costello syndrome
coarse facies, intellectual disability, short stature
3 shared
Schaaf–Yang syndrome
hypogonadism, intellectual disability, obesity
2 shared
Aniridia-Wilms tumor-genitourinary anomalies-retardation syndrome
intellectual disability, obesity
2 shared
Bardet–Biedl syndrome
hypogonadism, obesity
2 shared
Coffin–Siris syndrome
coarse facies, intellectual disability
2 shared
Fragile X syndrome
intellectual disability, large ears
2 shared
Hajdu–Cheney syndrome
coarse facies, short stature
Shares genes with
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