Lhermitte-Duclos disease
Findings
No curated finding names Lhermitte-Duclos disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Lhermitte-Duclos disease (LDD) is a very rare disorder characterized by abnormal development and enlargement of the cerebellum, and an increased intracranial pressure.
Definition from the Mondo Disease Ontology (MONDO:0019002), read 2026-09-29. CC BY 4.0.
Features
18 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AtaxiaHPOHP:0001251
- Very frequent (80% to 99% of cases)
- Cranial nerve paralysisHPOHP:0006824
- Very frequent (80% to 99% of cases)
- Enlarged cerebellumHPOHP:0012081
- Very frequent (80% to 99% of cases)
- Hand polydactylyHPOHP:0001161
- Very frequent (80% to 99% of cases)
- HeadacheHPOHP:0002315
- Very frequent (80% to 99% of cases)
- HydrocephalusHPOHP:0000238
- Very frequent (80% to 99% of cases)
- Increased intracranial pressureHPOHP:0002516
- Very frequent (80% to 99% of cases)
- MacrocephalyHPOHP:0000256
- Very frequent (80% to 99% of cases)
- MacroglossiaHPOHP:0000158
- Very frequent (80% to 99% of cases)
- Nausea and vomitingHPOHP:0002017
- Very frequent (80% to 99% of cases)
- PapuleHPOHP:0200034
- Very frequent (80% to 99% of cases)
- PolymicrogyriaHPOHP:0002126
- Very frequent (80% to 99% of cases)
Show the remaining 6
- SeizureHPOHP:0001250
- Very frequent (80% to 99% of cases)
- AcrokeratosisHPOHP:0200016
- Frequent (30% to 79% of cases)
- Fibroadenoma of the breastHPOHP:0010619
- Frequent (30% to 79% of cases)
- Neoplasm of the thyroid glandHPOHP:0100031
- Frequent (30% to 79% of cases)
- Ovarian neoplasmHPOHP:0100615
- Frequent (30% to 79% of cases)
- TrichilemmomaHPOHP:0012844
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PTENHGNC:9588
- Definitive · G2P · Autosomal dominant · 2017
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
4 names
Resolves to: Lhermitte-Duclos disease
- Also called
- dysplastic cerebellar gangliocytomadysplastic gangliocytoma of cerebellumdysplastic gangliocytoma of the cerebellumLDD