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Lhermitte-Duclos disease
1 OMIM reference -
1 associated gene
12 signs/symptoms
COMMON GENES: 1
COMMON SIGNS: 1
Proteus-like syndrome
1 OMIM reference -
1 associated gene
22 signs/symptoms
Lhermitte-Duclos disease
Proteus-like syndrome

PTEN
(UniProt - OMIM)
 PTEN
(UniProt - OMIM)

COMMON
GENES 		PTEN


Citations in the biomedical literature:


Lhermitte-Duclos disease
PTEN
Proteus-like syndrome



Lhermitte-Duclos disease
Proteus-like syndrome

Synonym(s):
- Dysplastic gangliocytoma of the cerebellum
- LDD
Synonym(s):
- Cohen-Hayden syndrome
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare oncologic disease
- Rare skin disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
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: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
COMMON
SIGNS 		- Macrocephaly / macrocrania / megalocephaly / megacephaly

Lhermitte-Duclos disease
Proteus-like syndrome

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
- 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


Very frequent
- Asymmetry of the body / hemiatrophy / hemihyperthrophy
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Conjunctival tumor / epibulbar dermoid
- Dental malocclusion
- Exostoses
- Genu recurvatum
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Irregular / in bands / reticular skin hyperpigmentation
- Lower limb asymmetry / hemiatrophy / hemihypertrophy
- Myopia
- Pigmented naevi / naevus pigmentosus / lentigo
- Pupillary anomalies / mydriasis / myosis / tonic pupil
- Xanthomas / lipomas

Frequent
- Cataract / lens opacification
- Communicating hydrocephaly
- Heterochromia / mixed colouring of iris
- Parathyroids anomalies
- Prognathism / prognathia
- Retinal detachment
- Shagreen patch
- Varices / varicous veins / venous insufficiency