Neurology · Neurology / Neurogenetics; Oncology
Bannayan–Riley–Ruvalcaba syndrome with neurological involvement
also: PTEN hamartoma tumor syndrome
Overgrowth syndrome with macrocephaly.
- Specialty
- Neurology
- Subspecialty
- Neurology / Neurogenetics; Oncology
- Sex & age distribution
- Male: affected; Female: affected equally; Children: yes, early onset
- Gene(s) involved
- PTEN
- Alternative names & eponyms
- PTEN hamartoma tumor syndrome
- Note
- Not primarily neurologic; verify
Etiology & mechanism
PTEN mutation.
Gene(s) involved (1)
Symptoms & signs (3)
In plain terms, someone with Bannayan–Riley–Ruvalcaba syndrome with neurological involvement 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
Cowden syndrome
autism, macrocephaly
1 shared
Bannayan–Riley–Ruvalcaba syndrome
macrocephaly
1 shared
DICER1 syndrome
macrocephaly
1 shared
Fragile X syndrome
autism
1 shared
Gorlin syndrome
macrocephaly
1 shared
Kenny–Caffey syndrome
macrocephaly
1 shared
Lhermitte–Duclos syndrome
macrocephaly
1 shared
Lujan–Fryns syndrome
macrocephaly
1 shared
Opitz–Kaveggia syndrome
macrocephaly
1 shared
Phelan–McDermid syndrome
autism
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