ODCs

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X-linked intellectual deficit with marfanoid habitus

2 OMIM references -
3 associated genes
33 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3

Lhermitte-Duclos disease

1 OMIM reference -
1 associated gene
12 signs/symptoms

X-linked intellectual deficit with marfanoid habitus

Lhermitte-Duclos disease

MED12	(UniProt - OMIM)	PTEN	(UniProt - OMIM)
UPF3B	(UniProt - OMIM)
ZDHHC9	(UniProt - OMIM)


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

Citations in the biomedical literature:

X-linked intellectual deficit with marfanoid habitus		Lhermitte-Duclos disease
	Synonym(s): - Lujan syndrome - Lujan-Fryns syndrome - X-linked mental retardation with marfanoid habitus - XLMR with marfanoid habitus		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): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: unknown 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: 2 OMIM references - No MeSH references		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Macrocephaly / macrocrania / megalocephaly / megacephaly - Seizures / epilepsy / absences / spasms / status epilepticus - Tall stature / gigantism / growth acceleration

X-linked intellectual deficit with marfanoid habitus		Lhermitte-Duclos disease
	Very frequent - Abnormal cry / voice / phonation disorder / nasal speech - High forehead - High vaulted / narrow palate - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - Marfanoid morphotype - Micrognathia / retrognathia / micrognathism / retrognathism - Psychic / behavioural troubles - Scoliosis - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - X-linked recessive inheritance Frequent - Atrial septal defect / interauricular communication - Corpus callosum / septum pellucidum total / partial agenesis - Flat cheek bones / malar hypoplasia - High nasal bridge - Hyperactivity / attention deficit - Hyperextensible joints / articular hyperlaxity - Long hand / arachnodactyly - Macroorchidism / macrotestes - Narrow face - Pectus excavatum - Short philtrum Occasional - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Brachycephaly / flat occiput - Camptodactyly of some fingers - Delirium / hallucination - Low set ears / posteriorly rotated ears - Prominent / bat ears - Psychosis / schizophrenia / maniac disorder - Short hand / brachydactyly		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 - Upper limb polydactyly / hexadactyly