{"orpha":662234,"name":"Neurodevelopmental delay-congenital heart defects-intellectual disability syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Radio-Tartaglia syndrome","SPEN-related neurodevelopmental disorder"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-662234/","orphanet_url":"https://www.orpha.net/en/disease/detail/662234","names":{"fr":{"name":"Syndrome de retard neurodevelopmental-malformations cardiaques congénitales-déficience intellectuelle","synonyms":["Syndrome de Radio-Tartaglia","Trouble neurologique du développement associé à SPEN"]},"de":{"name":"Neurologische Entwicklungsverzögerung-kongenitale Herzfehler-Intelligenzminderung-Syndrom","synonyms":["Neurologische Entwicklungsstörung, SPEN-assoziierte","Radio-Tartaglia-Syndrom"]},"es":{"name":"Síndrome de retraso del neurodesarrollo-cardiopatías congénitas-discapacidad intelectual","synonyms":["Síndrome de Radio-Tartaglia","Trastorno del neurodesarrollo asociado al gen SPEN"]},"it":{"name":"Sindrome ritardo dello sviluppo neurologico-cardiopatie congenite-disabilità intellettiva","synonyms":["Malattia del neurosviluppo correlata a SPEN","Sindrome di Radio-Tartaglia"]},"nl":{"name":"Neurologische ontwikkelingsachterstand - congenitale hartdefecten - intellectuele achterstand-syndroom","synonyms":["SPEN-gerelateerde neurologische ontwikkelingsstoornis","Syndroom van Radio-Tartaglia"]},"pt":{"name":"Síndrome de perturbação do neurodesenvolvimento-anomalias cardíacas congénitas-perturbação do desenvolvimento intelectual","synonyms":["Doença do neurodesenvolvimento SPEN-relacionada","Síndrome Radio-Tartaglia"]},"pl":{"name":"Zespół z opóźnieniem neurorozwojowym, wrodzonymi wadami serca i niepełnosprawnością intelektualną","synonyms":["Radio-Tartaglia syndrome","SPEN-related neurodevelopmental disorder"]},"cs":{"name":"Syndrom zahrnující opoždění neurologického vývoje, vrozené srdeční vady a intelektovou nedostatečnost","synonyms":["Radio-Tartaglia syndrome","SPEN-related neurodevelopmental disorder"]},"uk":{"name":"Синдром затримки нейророзвитку-вроджених вад серця-інтелектуальної недостатності","synonyms":["Синдром радіо-тартаглії","Повязане з SPEN порушення нейророзвитку"]}},"xrefs":[{"source":"OMIM","code":"619312","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0859143","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"859143","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5543339","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":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]}],"children":[],"genes":[{"symbol":"SPEN","name":"spen family transcriptional repressor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"33596411[PMID]","hgnc":"17575","ensembl":"ENSG00000065526","omim":"613484","loci":["1p36.21-p36.13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"39431794[PMID]_ORPHANET"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":35.0,"area":"Worldwide","status":"Validated","source":"39431794[PMID]"}],"phenotypes":null}