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: 10

Bannayan-Riley-Ruvalcaba syndrome

1 OMIM reference -
1 associated gene
55 signs/symptoms

X-linked intellectual deficit with marfanoid habitus

Bannayan-Riley-Ruvalcaba syndrome

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		Bannayan-Riley-Ruvalcaba syndrome
	Synonym(s): - Lujan syndrome - Lujan-Fryns syndrome - X-linked mental retardation with marfanoid habitus - XLMR with marfanoid habitus		Synonym(s): - BRRS - Myhre-Riley-Smith syndrome - Syndrome de Myhre-Rikey-Smith

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare gastroenterologic disease - Rare genetic disease - Rare neurologic 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: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: x-linked recessive		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: no data available Type of inheritance: autosomal dominant

	External references: 2 OMIM references - No MeSH references		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- High vaulted / narrow palate - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - Macrocephaly / macrocrania / megalocephaly / megacephaly - Micrognathia / retrognathia / micrognathism / retrognathism - Pectus excavatum - Scoliosis - Seizures / epilepsy / absences / spasms / status epilepticus - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Tall stature / gigantism / growth acceleration

X-linked intellectual deficit with marfanoid habitus		Bannayan-Riley-Ruvalcaba syndrome
	Very frequent - Abnormal cry / voice / phonation disorder / nasal speech - High forehead - Marfanoid morphotype - Psychic / behavioural troubles - 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 - 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 - Arteriovenous malformations / vascular malformations (excluding port-wine stains) - Autosomal dominant inheritance - Breast neoplasm / tumor / carcinoma / cancer - Capillary hemangioma / nevus / naevus flammeus / port-wine stain - Hamartoma / tumefaction of the tongue / gingivae / oral mucosa - Irregular / in bands / reticular skin hyperpigmentation - Polyposis of the bowel / colon / intestine - Short stature / dwarfism / nanism - Visceral angiomatosis (excluding skin) - Xanthomas / lipomas Frequent - Mucosal / cutaneous hemorrhage - Subcutaneous nodules / lipomas / tumefaction / swelling Occasional - Absent / hypotonic / flaccid abdominal wall muscles - Angor pectoris / myocardial infarction - Anteverted nares / nostrils - Aortic dilatation / dilation - Broad nose / nasal bridge - Broad / bifid thumb - Cafe-au-lait spot - Cortical adrenal neoplasm / tumor / carcinoma / cancer - Cutis marmorata / marbled skin / livedo - Delayed bone age - Dolichocephaly / scaphocephaly - Early death / lethality - Frontal bossing / prominent forehead - Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding - Hypoglycemia - Intracranial / cerebral / meningeal hemorrhage - Long philtrum - Long / large ear - Lymphedema - Lymphoma - Meningioma - Motor deficit / trouble - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Muscle weakness / flaccidity - Myopathy - Neoplasms / tumors - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Short / small nose - Telangiectasiae of the skin - Thyroid neoplasm / tumor / carcinoma / cancer - Thyroiditis - Uterus / uterine / cervix / endometrium neoplasm / tumor / carcinoma / cancer - Wasted (excluding lipodystrophy) / poorly muscled build / cachexy