{"orpha":717841,"name":"Global developmental delay-facial dysmorphism-atrial septal defect syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Neurodevelopmental disorder due to KDM2B-CxxC domain mutation"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-717841/","orphanet_url":"https://www.orpha.net/en/disease/detail/717841","names":{"fr":{"name":"Syndrome de retard global de développement-dysmorphie faciale-communication interauriculaire","synonyms":["Trouble du neurodéveloppement dû à une mutation dans le domaine CxxC du gène KDM2B"]},"de":{"name":"Globale Entwicklungsverzögerung-Gesichtsdysmorphie-Atriumseptumdefekt-Syndrom","synonyms":["Neurologische Entwicklungsstörung durch Mutation in der CxxC-Domäne des KDM2B-Gens","KDM2B-assoziierte neurologische Entwicklungsstörung","NEDCRO","Neurologische Entwicklungsstörung mit angeborenen Herzfehlern und variablen Nieren- und Augenanomalien"]},"es":{"name":"Síndrome de retraso global del desarrollo-dismorfia facial-comunicación interauricular","synonyms":["Trastorno del neurodesarrollo por mutación del dominio CxxC de KDM2B"]},"it":{"name":"Sindrome ritardo dello sviluppo globale-dismorfismi facciali-difetto del setto interatriale","synonyms":["Malattia del neurosviluppo da mutazione del dominio KDM2B-CxxC"]},"nl":{"name":"Algehele ontwikkelingsachterstand - faciale dysmorfie - atriumseptumdefect-syndroom","synonyms":["Neurologische ontwikkelingsstoornis door mutatie in CxxC-domein van KDM2B"]},"pt":{"name":"Global developmental delay-facial dysmorphism-atrial septal defect syndrome"},"pl":{"name":"Global developmental delay-facial dysmorphism-atrial septal defect syndrome","synonyms":["Neurodevelopmental disorder due to KDM2B-CxxC domain mutation"]},"cs":{"name":"Global developmental delay-facial dysmorphism-atrial septal defect syndrome","synonyms":["Neurodevelopmental disorder due to KDM2B-CxxC domain mutation"]}},"xrefs":[{"source":"OMIM","code":"621474","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":"KDM2B","name":"lysine demethylase 2B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"40420380[PMID]","hgnc":"13610","ensembl":"ENSG00000089094","omim":"609078","loci":["12q24.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}