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Syndrome reference sheet
Generated 13 Oct 2026
Neurology · Neurology / Neuro-oncology

Lhermitte–Duclos syndrome

Also known as: Dysplastic cerebellar gangliocytoma

Cerebellar hamartoma associated with Cowden syndrome.

Medical specialty
Neurology
Subspecialty
Neurology / Neuro-oncology
Sex & age distribution
Male: affected; Female: affected; Children: yes, young adults
Gene(s) involved
PTEN

Etiology & mechanism

PTEN loss.

Gene(s) involved (1)

PTEN

Symptoms & signs (4)

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