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X-linked intellectual deficit with marfanoid habitus

2 OMIM references -
3 associated genes
33 signs/symptoms

PROTEIN INTERACTIONS: 1

Beta-thalassemia major

1 OMIM reference -
1 associated gene
48 signs/symptoms

X-linked intellectual deficit with marfanoid habitus

Beta-thalassemia major

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


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	UPF3B	(0.49)	HBB

Citations in the biomedical literature:

X-linked intellectual deficit with marfanoid habitus		Beta-thalassemia major
	Synonym(s): - Lujan syndrome - Lujan-Fryns syndrome - X-linked mental retardation with marfanoid habitus - XLMR with marfanoid habitus		Synonym(s): - Cooley anemia - Mediterranean anemia

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

	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: - Type of inheritance: autosomal recessive

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

X-linked intellectual deficit with marfanoid habitus		Beta-thalassemia major
	Very frequent - Abnormal cry / voice / phonation disorder / nasal speech - High forehead - High vaulted / narrow palate - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - Macrocephaly / macrocrania / megalocephaly / megacephaly - 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 - Anaemia - Autosomal recessive inheritance - Hemoglobinosis / hemoglobinopathy - Hypersplenism - Microcytic anemia - Pallor Frequent - Anomalies of teeth and dentition - Biliary / gallbladder stones / lithiasis / cholecystitis - Depressed nasal bridge - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Fever / chilling - Genu valgum - Hepatitis / icterus / cholestasis - Hepatomegaly / liver enlargement (excluding storage disease) - Humour troubles / anxiety / depression / apathy / euphoria / irritability - Hyperferritinemia / iron overload - Late puberty / hypogonadism / hypogenitalism - Malabsorption / chronic diarrhea / steatorrhea - Muscle weakness / flaccidity - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets - Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness - Prominent premaxillary region / midface - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Skull / cranial anomalies - Upslanted palpebral fissures / mongoloid slanting palpebral fissures Occasional - Abnormal hepatic enzymes / transaminases - Achromatopsia / dyschromatopsia / daltonism / impaired colour vision - Anomalies of chest / thorax / trunk - Articular / joint pain / arthralgia - Bone marrow failure / pancytopenia - Cardiac rhythm disorder / arrhythmia - Cardiomyopathy / hypertrophic / dilated - Cataract / lens opacification - Chronic skin infection / ulcerations / ulcers / cancrum - Cirrhosis - Collapse / sudden death / cardiac arrest / cardiorespiratory arrest - Cortico-adrenal hypoplasia / insufficiency - Diabetes mellitus - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Hearing loss / hypoacusia / deafness - Hepatic / liver neoplasm / tumor / carcinoma / cancer - Hypoparathyroidy - Hypothalamic-hypophyseal axis functional anomalies / hypopituitarism - Hypothyroidy - Mild visual loss / impaired visual acuity - Night blindness / hemeralopia - Pulmonary hypertension - Venous thrombosis / phlebitis / thrombophlebitis