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1 OMIM reference -
1 associated gene
12 signs/symptoms
COMMON GENES: 1
4 OMIM references -
13 associated genes
No signs/symptoms info
Lhermitte-Duclos disease
Hereditary breast and ovarian cancer syndrome

PTEN BARD1
BRCA1
BRCA2
BRIP1
CHEK2
MRE11A
NBN
PALB2
PTEN
RAD50
RAD51
RAD51C
RAD51D


COMMON
GENES
PTEN



Citations in the biomedical literature:


Lhermitte-Duclos disease
PTEN
Hereditary breast and ovarian cancer syndrome
BARD1 BRCA1 BRCA2 BRIP1 CHEK2 MRE11A
NBN PALB2 RAD50 RAD51 RAD51C
RAD51D



Lhermitte-Duclos disease
Hereditary breast and ovarian cancer syndrome

Synonym(s):
- Dysplastic gangliocytoma of the cerebellum
- LDD

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare oncologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Neoplasms -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: unknown
Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
4 OMIM references -
No MeSH references

Lhermitte-Duclos disease

Very frequent
- Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect
- Ataxia / incoordination / trouble of the equilibrium
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Cranial nerves palsy
- Facial pain / cephalalgia / migraine
- Hydrocephaly
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Macroglossia / tongue protrusion / proeminent / hypertrophic
- Nausea / vomiting / regurgitation / merycism / hyperemesis
- Seizures / epilepsy / absences / spasms / status epilepticus
- Upper limb polydactyly / hexadactyly

Occasional
- Tall stature / gigantism / growth acceleration


Hereditary breast and ovarian cancer syndrome

(no data available)