X-linked intellectual disability with marfanoid habitus.
- Specialty
- Genetics
- Subspecialty
- Genetics / Single-gene syndromes
- Sex & age distribution
- Male: affected, X-linked; Female: carriers; Children: yes
- Gene(s) involved
- MED12
- Alternative names & eponyms
- Lujan syndrome
Etiology & mechanism
MED12 mutation.
Gene(s) involved (1)
Symptoms & signs (6)
In plain terms, someone with Lujan–Fryns 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
2 shared
Fragile X syndrome
intellectual disability, long face
2 shared
Lennox–Gastaut syndrome
behavioral problems, intellectual disability
2 shared
Prader–Willi syndrome
behavioral problems, intellectual disability
2 shared
Shprintzen–Goldberg syndrome
intellectual disability, marfanoid habitus
2 shared
XYY syndrome
behavioral problems, macrocephaly
1 shared
Allan–Herndon–Dudley syndrome
intellectual disability
1 shared
Aniridia-Wilms tumor-genitourinary anomalies-retardation syndrome
intellectual disability
1 shared
Apert syndrome
intellectual disability
1 shared
Bannayan–Riley–Ruvalcaba syndrome
macrocephaly
1 shared
Bannayan–Riley–Ruvalcaba syndrome with neurological involvement
macrocephaly
Shares genes with
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