Bannayan–Riley–Ruvalcaba syndrome with neurological involvement

Also known as: PTEN hamartoma tumor syndrome

Overgrowth syndrome with macrocephaly.

Medical specialty: Neurology
Subspecialty: Neurology / Neurogenetics; Oncology
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, early onset
Gene(s) involved: PTEN

Etiology & mechanism

PTEN mutation.

Gene(s) involved (1)

PTEN

Symptoms & signs (3)

autismhamartomasmacrocephaly

Note

Not primarily neurologic; verify

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.