X-linked intellectual disability syndrome with characteristic facial and skeletal features.
- Specialty
- Neurology
- Subspecialty
- Neurology / Neurogenetics
- Sex & age distribution
- Male: affected, nearly all; Female: affected, milder (variable); Children: yes, childhood onset
- Gene(s) involved
- RPS6KA3
- Alternative names & eponyms
- Coffin–Lowry syndrome
Etiology & mechanism
RPS6KA3 mutations.
Gene(s) involved (1)
Symptoms & signs (5)
In plain terms, someone with Coffin–Lowry 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.
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Shares symptoms with
3 shared
Börjeson–Forssman–Lehmann syndrome
coarse facies, intellectual disability, short stature
3 shared
Costello syndrome
coarse facies, intellectual disability, short stature
2 shared
Borjeson–Forssman–Lehmann syndrome
coarse facies, intellectual disability
2 shared
Coffin–Siris syndrome
coarse facies, intellectual disability
2 shared
Hajdu–Cheney syndrome
coarse facies, short stature
2 shared
Hunter syndrome
coarse facies, short stature
2 shared
Lowe syndrome
intellectual disability, short stature
2 shared
Marinesco–Sjögren syndrome
intellectual disability, short stature
2 shared
Nicolaides–Baraitser syndrome
coarse facies, short stature
2 shared
Prader–Willi syndrome
intellectual disability, short stature
Shares genes with
None.
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