X-linked intellectual disability with obesity and hypogonadism.
- Specialty
- Genetics
- Subspecialty
- Genetics / Single-gene syndromes
- Sex & age distribution
- Male: affected, X-linked; Female: carriers; Children: yes
- Gene(s) involved
- PHF6
- Alternative names & eponyms
- BFLS
Etiology & mechanism
PHF6 mutation.
Gene(s) involved (1)
Symptoms & signs (6)
In plain terms, someone with Borjeson–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
Börjeson–Forssman–Lehmann syndrome
coarse facies, hypogonadism, intellectual disability, large ears, obesity
3 shared
Prader–Willi syndrome
hypogonadism, intellectual disability, obesity
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
Cardiofaciocutaneous syndrome
intellectual disability, seizures
2 shared
Coffin–Lowry syndrome
coarse facies, intellectual disability
2 shared
Coffin–Siris syndrome
coarse facies, intellectual disability
2 shared
Costello syndrome
coarse facies, intellectual disability
2 shared
Crigler–Najjar syndrome
intellectual disability, seizures
Shares genes with
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