X-linked intellectual disability with macrocephaly and imperforate anus.
- Specialty
- Genetics
- Subspecialty
- Genetics / Single-gene syndromes
- Sex & age distribution
- Male: affected, X-linked; Female: carriers; Children: yes
- Gene(s) involved
- CASK, FLNA, MED12, UPF3B, ZDHHC9
- Alternative names & eponyms
- FG syndrome
Etiology & mechanism
MED12 mutation.
Gene(s) involved (5)
Symptoms & signs (6)
In plain terms, someone with Opitz–Kaveggia 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
2 shared
Sotos syndrome
hypotonia, macrocephaly
1 shared
Allan–Herndon–Dudley syndrome
hypotonia
1 shared
Bannayan–Riley–Ruvalcaba syndrome
macrocephaly
1 shared
Bannayan–Riley–Ruvalcaba syndrome with neurological involvement
macrocephaly
1 shared
Benign hereditary chorea
hypotonia
1 shared
Brain–lung–thyroid syndrome
hypotonia
1 shared
Cerebral folate deficiency syndrome
hypotonia
1 shared
Chilaiditi syndrome
constipation
1 shared
Chronic intestinal pseudo-obstruction syndrome
constipation
1 shared
Cloacal exstrophy OEIS syndrome
imperforate anus
Loading…
Loading…