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1 OMIM reference -
1 associated gene
12 signs/symptoms
PROTEIN INTERACTIONS: 1
35 OMIM references -
25 associated genes
2 signs/symptoms
Lhermitte-Duclos disease
X-linked non-syndromic intellectual deficit

PTEN ACSL4
AGTR2
ALG13
ARHGEF6
ARX
DLG3
FTSJ1
GDI1
HCFC1
IL1RAPL1
IQSEC2
MAGT1
MECP2
MED12
MID2
PAK3
RAB39B
RPS6KA3
SYP
TSPAN7
UPF3B
ZNF41
ZNF674
ZNF711
ZNF81


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
PTEN
(0.63)
MED12



Citations in the biomedical literature:


Lhermitte-Duclos disease
PTEN
X-linked non-syndromic intellectual deficit
ACSL4 AGTR2 ALG13 ARHGEF6 ARX DLG3
FTSJ1 GDI1 HCFC1 IL1RAPL1 IQSEC2 MAGT1
MECP2 MED12 MID2 PAK3 RAB39B RPS6KA3
SYP TSPAN7 UPF3B ZNF41 ZNF674 ZNF711
ZNF81



Lhermitte-Duclos disease
X-linked non-syndromic intellectual deficit

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

Synonym(s):
- X-linked non-specific intellectual deficit

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

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
(no data available)

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: childhood
Average age of death: no data available
Type of inheritance: x-linked recessive

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

Lhermitte-Duclos disease
X-linked non-syndromic intellectual deficit

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


Very frequent
- Intellectual deficit / mental / psychomotor retardation / learning disability
- X-linked recessive inheritance