{"orpha":100973,"name":"FRAXE intellectual disability","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Intellectual disability associated with fragile site FRAXE"],"definition":"A rare X-linked syndromic intellectual disability characterized by a variable clinical picture including developmental delay, mild to moderate intellectual disability, learning difficulties, communication deficits, and behavioral problems (such as aggression, attention deficit, hyperactivity, and autistic features). Personality disorder and psychotic behavior have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-100973/","orphanet_url":"https://www.orpha.net/en/disease/detail/100973","names":{"fr":{"name":"Déficience intellectuelle FRAXE","synonyms":["Déficience intellectuelle associée au site fragile FRAXE"],"definition":"Déficience intellectuelle rare, liée à l'X, caractérisée par un tableau clinique variable à type de retard de développement, de déficience intellectuelle légère à modérée, de troubles d'apprentissage, de la communication, du comportement (agressivité, déficit de l'attention/hyperactivité et de trouble du spectre de l'autisme). Des troubles de la personnalité et des troubles psychotiques ont également été rapportés."},"de":{"name":"FRAXE-Syndrom","synonyms":["Fragiles XE-Syndrom","Intelligenzminderung assoziiert mit FRAXE"],"definition":"Eine seltene X-chromosomale Form der Intelligenzminderung, die durch ein variables klinisches Bild gekennzeichnet ist, das Entwicklungsverzögerungen, leichte bis mittelschwere Intelligenzminderung, Lernschwierigkeiten, Kommunikationsdefizite und Verhaltensprobleme (wie Aggression, Aufmerksamkeitsdefizit, Hyperaktivität und autistische Züge) umfasst. Es wurde auch über Persönlichkeitsstörungen und psychotisches Verhalten berichtet."},"es":{"name":"Discapacidad intelectual FRAXE","synonyms":["Discapacidad intelectual asociada al sitio frágil FRAXE"],"definition":"Es una discapacidad intelectual sindrómica poco frecuente ligada al cromosoma X caracterizada por un cuadro clínico variable que incluye retraso del desarrollo, discapacidad intelectual de leve a moderada, dificultades de aprendizaje, déficits de comunicación y trastornos de la conducta (como agresividad, déficit de atención, hiperactividad y rasgos autistas). También se ha asociado a trastornos de la personalidad y conducta psicótica."},"it":{"name":"Deficit cognitivo FRAXE","synonyms":["Deficit cognitivo associato a sito fragile FRAXE"],"definition":"Si tratta di una disabilità intellettiva sindromica rara legata all'X, caratterizzata da un quadro clinico variabile, che comprende il ritardo dello sviluppo, la disabilità intellettiva lieve-moderata, le difficoltà di apprendimento, i deficit della comunicazione e i problemi comportamentali (aggressività, deficit di attenzione, iperattività e tratti autistici). I pazienti possono presentare anche disturbi della personalità e comportamenti psicotici."},"nl":{"name":"FRAXE-intellectuele achterstand","synonyms":["Intellectuele achterstand geassocieerd met fragiele site FRAXE"],"definition":"Een zeldzame X-gebonden syndromale intellectuele achterstand, gekenmerkt door een variabel klinisch beeld met onder meer ontwikkelingsachterstand, milde tot matige intellectuele achterstand, leermoeilijkheden, communicatiestoornissen, en gedragsproblemen (zoals agressie, aandachtstekort, hyperactiviteit, en autistische kenmerken). Persoonlijkheidsstoornis en psychotisch gedrag werden ook reeds gerapporteerd."},"pt":{"name":"Perturbação do desenvolvimento intelectual FRAXE","synonyms":["Perturbação do desenvolvimento intelectual FRAXE-associada"]},"pl":{"name":"Niepełnosprawność intelektualna FRAXE","synonyms":["Niepełnosprawność intelektualna związana z łamliwością FRAXE"]},"cs":{"name":"FRAXE mentální retardace","synonyms":["Mentální retardace související s fragilním místem FRAXE"]},"uk":{"name":"Інтелектуальна недостатність FRAXE","synonyms":["Інтелектуальна недостатність, повязана з ламким сайтом FRAXE"],"definition":"A rare X-linked syndromic intellectual disability characterized by a variable clinical picture including developmental delay, mild to moderate intellectual disability, learning difficulties, communication deficits, and behavioral problems (such as aggression, attention deficit, hyperactivity, and autistic features). Personality disorder and psychotic behavior have also been reported."},"zh":{"name":"X连锁飞梭脆性部位相关型智力障碍","synonyms":["FRAXE片段相关智力障碍"],"definition":"FRAXE是一种以轻度智力缺陷为特征的非综合征性X连锁智力低下(NS-XLMR)。FRAXE是NS-XLMR最常见的形式。"},"tr":{"name":"FRAXE zihinsel yetersizlik","synonyms":["Frajil bölgeli FRAXE ile ilişkili zihinsel yetersizlik"]}},"xrefs":[{"source":"OMIM","code":"309548","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q99.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD90.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"327403520"},{"source":"MONDO","code":"0010659","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4274328","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2378","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"AFF2","name":"ALF transcription elongation factor 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21739600[PMID]","hgnc":"3776","ensembl":"ENSG00000155966","omim":"300806","loci":["Xq28"]},{"symbol":"FMR3","name":"fragile X mental retardation associated 3","gene_type":"Disorder-associated locus","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"16469443[PMID]_11015457[PMID]","hgnc":"3777","ensembl":null,"omim":null,"loci":["Xq28"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-05-22","source":"8651274[PMID]_21739600[PMID]","terms":[{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000713","label":"Agitation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002312","label":"Clumsiness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000722","label":"Compulsive behaviors","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001609","label":"Hoarse voice","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000752","label":"Hyperactivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100710","label":"Impulsivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009904","label":"Prominent ear helix","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000426","label":"Prominent nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100023","label":"Recurrent hand flapping","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012471","label":"Thick vermilion border","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012172","label":"Stereotypical body rocking","frequency":"Occasional (29-5%)","criteria":null}]}}