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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: 1

Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus

1 associated gene
21 signs/symptoms

X-linked intellectual deficit with marfanoid habitus

Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus

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		Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
	Synonym(s): - Lujan syndrome - Lujan-Fryns syndrome - X-linked mental retardation with marfanoid habitus - XLMR with marfanoid habitus		Synonym(s): - SOLAMEN syndrome

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

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

	Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: x-linked recessive		Epidemiological data: (no data available)

	External references: 2 OMIM references - No MeSH references		External references: No OMIM references No MeSH references


COMMON SIGNS	- Macrocephaly / macrocrania / megalocephaly / megacephaly

X-linked intellectual deficit with marfanoid habitus		Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
	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 - Tall stature / gigantism / growth acceleration - 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 - Seizures / epilepsy / absences / spasms / status epilepticus - Short hand / brachydactyly		Very frequent - Arteriovenous malformations / vascular malformations (excluding port-wine stains) - Autosomal dominant inheritance - Capillary hemangioma / nevus / naevus flammeus / port-wine stain - Follicular / erythematous / edematous papules / milium - Lower limb asymmetry / hemiatrophy / hemihypertrophy - Lymphangioma / lymphatic malformations - Rippled skin - Subcutaneous nodules / lipomas / tumefaction / swelling - Upper limb asymmetry / hemiatrophy / hemihypertrophy - Varices / varicous veins / venous insufficiency Frequent - Hamartoma / tumefaction of the tongue / gingivae / oral mucosa - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets Occasional - Breast neoplasm / tumor / carcinoma / cancer - Heart / cardiac failure - Hemiplegia / diplegia / hemiparesia / limb palsy - Mutiple fractures / bone fragility - Ovary / Fallopian tube neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma) - Talipes-varus / metatarsal varus - Thyroid neoplasm / tumor / carcinoma / cancer - Visceral angiomatosis (excluding skin)