ODCs

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1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
12 signs/symptoms

Blepharophimosis-intellectual deficit syndrome, MKB type

Lhermitte-Duclos disease


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

Citations in the biomedical literature:

Blepharophimosis-intellectual deficit syndrome, MKB type		Lhermitte-Duclos disease
	Synonym(s): - BMRS, MKB type - BMRS, Maat-Kievit-Brunner type - Blepharophimosis-intellectual deficit syndrome, Maat-Kievit-Brunner type		Synonym(s): - Dysplastic gangliocytoma of the cerebellum - LDD

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

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

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: x-linked recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: adulthood Average age of death: - Type of inheritance: unknown

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 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
Blepharophimosis-intellectual deficit syndrome, MKB type
(no data available)