{"orpha":646278,"name":"CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CDK13-related disorder"],"definition":"A rare genetic syndromic intellectual disability characterized by intellectual disabilities/neurodevelopmental disorders associated with developmental delay and various others features such as congenital heart malformation and specific facial features.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-646278/","orphanet_url":"https://www.orpha.net/en/disease/detail/646278","names":{"fr":{"name":"Syndrome de retard de développement-déficience intellectuelle-dysmorphie faciale- malformations cardiaques congénitales associé à CDK13","definition":"Déficience intellectuelle syndromique rare d'origine génétique, caractérisée par une déficience intellectuelle/des troubles du développement neurologique associés à un retard de développement et à diverses autres manifestations, telles qu'une malformation cardiaque congénitale et une dysmorphie faciale."},"de":{"name":"CDK13-assoziierte Entwicklungsverzögerung-Intelligenzminderung-Gesichtsdysmorphien-kongenitale Herzfehler-Syndrom","synonyms":["CDK13-assoziierte Störung"],"definition":"Eine syndromale Form der Intelligenzminderung, die durch intellektuelle Behinderungen/neurologische Entwicklungsstörungen in Verbindung mit Entwicklungsverzögerungen und verschiedenen anderen Merkmalen wie angeborenen Herzfehlbildungen und spezifischen Gesichtszügen gekennzeichnet ist."},"es":{"name":"Síndrome de trastornos del desarrollo-discapacidad intelectual-dismorfia facial-defectos cardíacos congénitos asociado a CDK13","synonyms":["Trastorno asociado a CDK13"],"definition":"Es una discapacidad intelectual sindrómica poco frecuente de origen genético, caracterizada por discapacidad intelectual/trastornos del desarrollo neurológico asociados a retraso psicomotor y otras características diversas, como cardiopatías congénitas y rasgos faciales específicos."},"it":{"name":"Sindrome ritardo dello sviluppo-disabilità intellettiva-dismorfismi facciali-cardiopatie congenite correlata a CDK13","synonyms":["Malattia correlata a CDK13"]},"nl":{"name":"CDK13-gerelateerd ontwikkelingsachterstand - intellectuele achterstand - faciale dysmorfie - congenitale hartdefecten-syndroom","synonyms":["CDK13-gerelateerde aandoening"],"definition":"Een zeldzame, genetische syndromale intellectuele achterstand, gekenmerkt door intellectuele achterstand/neurologische ontwikkelingsstoornissen geassocieerd met ontwikkelingsachterstand en verschillende andere kenmerken zoals congenitale hartmalformatie en specifieke gelaatskenmerken."},"pt":{"name":"Síndrome de anomalias cardíacas congénitas-dismorfia facial-perturbação do desenvolvimento intelectual-CDK13-relacionada","synonyms":["Doença CDK13-relacionada"],"definition":"Perturbação do desenvolvimento intelectual sindrómica genética rara caracterizada por perturbação do desenvolvimento intelectual/perturbações do neurodesenvolvimento associadas a atraso no desenvolvimento e a várias outras características, como malformação cardíaca congénita e características faciais específicas."},"pl":{"name":"Związany z CDK13 zespół wrodzonych wad serca - niepełnosprawności intelektualnej - dysmorfii twarzy","synonyms":["CDK13-related disorder"],"definition":"Zespół opóźnienia rozwojowego - niepełnosprawności intelektualnej - dysmorfii twarzy - wrodzonych wad serca (CDK13-RD) związany z CDK13 to choroba odkryta niedawno (2016), a jej częstość występowania jest obecnie nieznana. Do tej pory w literaturze opisano mniej niż 100 osób."},"cs":{"name":"Syndrom související s CDK13 zahrnující vrozené srdeční defekty, intelektovou nedostatečnost a faciální dysmorfii","synonyms":["CDK13-related disorder"]},"uk":{"name":"CDK13-повязаний синдром затримки розвитку-інтелектуальної недостатності-дизморфізму обличчя-вроджених вад серця","synonyms":["Захворювання, повязані з CDK13"],"definition":"A rare genetic syndromic intellectual disability characterized by intellectual disabilities/neurodevelopmental disorders associated with developmental delay and various others features such as congenital heart malformation and specific facial features."}},"xrefs":[{"source":"OMIM","code":"617360","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD90.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0044302","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5816700","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]},{"orpha":156532,"name":"Rare syndrome with cardiac malformations","classifications":[147,148,156]}],"children":[],"genes":[{"symbol":"CDK13","name":"cyclin dependent kinase 13","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"35063350[PMID]","hgnc":"1733","ensembl":"ENSG00000065883","omim":"603309","loci":["7p14.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":25.0,"area":"Worldwide","status":"Validated","source":"27479907[PMID]_28807008[PMID]_29021403[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"27479907[PMID]_28807008[PMID]_29021403[PMID]_ORPHANET"}],"phenotypes":null}