{"orpha":662829,"name":"Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["BCL11B-related neurodevelopmental disorder"],"definition":"A rare genetic syndromic neurodevelopmental disorder characterized by intellectual disability, speech and motor delay, and distinctive craniofacial features. Immune involvement is common, though only some individuals develop immunodeficiency or autoimmunity. Additional features may include craniosynostosis, seizures, brain MRI abnormalities, and refractive errors.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-662829/","orphanet_url":"https://www.orpha.net/en/disease/detail/662829","names":{"fr":{"name":"Syndrome de déficience intellectuelle-retard de langage-dysmorphie faciale-anomalies des lymphocytes T","synonyms":["Trouble du neurodéveloppement associé à BCL11B"],"definition":"Trouble syndromique du neurodéveloppement rare d'origine génétique caractérisé par une déficience intellectuelle, un retard de langage et de développement moteur, ainsi que par des anomalies craniofaciales particulières. L'atteinte immunitaire est fréquente, mais seuls certains patients développent un déficit immunitaire ou une auto-immunité. La maladie peut se caractériser par ailleurs par une craniosynostose, des crises d'épilepsie, des anomalies à l'IRM cérébrale et des erreurs de la réfraction."},"de":{"name":"Intelligenzminderung-Sprachverzögerung-dysmorphe Merkmale-T-Zell-Anomalien-Syndrom","synonyms":["BCL11B-assoziierte neurologische Entwicklungsstörung"],"definition":"Eine seltene syndromale Form der neurologischen Entwicklungsstörung, die durch Intelligenzminderung, Sprach- und motorische Entwicklungsverzögerung und ausgeprägte kraniofaziale Merkmale gekennzeichnet ist. Eine Beteiligung des Immunsystems ist häufig, obwohl nur einige Personen eine Immundefekt oder Autoimmunität entwickeln. Weitere Merkmale können Kraniosynostose, Krampfanfälle, MRT-Anomalien des Gehirns und Refraktionsfehler sein."},"es":{"name":"Síndrome de discapacidad intelectual-retraso del habla-rasgos dismórficos-alteración de las células T","synonyms":["Trastorno del neurodesarrollo asociado a BCL11B"],"definition":"Es un trastorno sindrómico del neurodesarrollo, de origen genético y poco frecuente, caracterizado por discapacidad intelectual, retraso del habla y del desarrollo motor, y rasgos craneofaciales distintivos. La afectación inmunológica es frecuente, aunque sólo algunos pacientes desarrollan inmunodeficiencia o autoinmunidad. Otras características pueden incluir craneosinostosis, crisis epilépticas, anomalías en la neuroimagen y defectos de refracción."},"it":{"name":"Sindrome disabilità intellettiva-ritardo del linguaggio-dismorfismi-anomalie dei linfociti T","synonyms":["Disturbo dello sviluppo neurologico correlato al gene BCL11B"]},"nl":{"name":"Intellectuele achterstand - spraakachterstand - dysmorfe kenmerken - T-celafwijkingen-syndroom","synonyms":["BCL11B-gerelateerde neurologische ontwikkelingsstoornis"],"definition":"Een zeldzame genetische syndromale neurologische ontwikkelingsstoornis, gekenmerkt door intellectuele achterstand, spraakachterstand en motor achterstand, en typische craniofaciale kenmerken. Betrokkenheid van het immuunsysteem is gangbaar, maar slechts enkele individuen ontwikkelen immuundeficiëntie of auto-immuniteit. Mogelijke bijkomende kenmerken zijn onder meer craniosynostose, insulten, hersenafwijkingen op MRI, en refractiefouten."},"pt":{"name":"Síndrome de perturbação do desenvolvimento intelectual-perturbação da linguagem-características dismórficas-anomalia das células T"},"pl":{"name":"Zespół z niepełnosprawnością intelektualną, opóźnieniem mowy, cechami dysmorfii i nieprawidłowościami komórek T","synonyms":["BCL11B-related neurodevelopmental disorder"]},"cs":{"name":"Syndrom zahrnující intelektovou nedostatečnost, opoždění řeči, dysmorfické rysy a abnormality T-buněk","synonyms":["BCL11B-related neurodevelopmental disorder"]},"uk":{"name":"Синдром інтелектуальної недостатності-затримки мовлення-дисморфічних ознак-Т-клітинних аномалій"}},"xrefs":[{"source":"OMIM","code":"618092","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0060763","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"60763","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5925076","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":331223,"name":"Hyper-IgE syndrome","classifications":[156,195]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]}],"children":[],"genes":[{"symbol":"BCL11B","name":"BCL11 transcription factor B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29985992[PMID]","hgnc":"13222","ensembl":"ENSG00000127152","omim":"606558","loci":["14q32.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}