{"orpha":660012,"name":"Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["NR4A2-related neurodevelopmental syndrome"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-660012/","orphanet_url":"https://www.orpha.net/en/disease/detail/660012","names":{"fr":{"name":"Syndrome de retard développemental-troubles du language-dystonie dopa sensible-parkinsonisme dû à une mutation ponctuelle de NR4A2","synonyms":["Syndrome neurodeveloppemental associé à NR4A2"]},"de":{"name":"Neurologische Entwicklungsverzögerung-Sprachbehinderung-Dopa-reaktive Dystonie-Parkinsonismus-Syndrom","synonyms":["Neurologische Entwicklungsstörung, NR4A2-assoziierte"]},"es":{"name":"Síndrome de retraso del desarrollo-trastorno del lenguaje-distonía dopa-sensible-parkinsonismo por una mutación puntual en el gen NR4A2"},"it":{"name":"Sindrome ritardo dello sviluppo-deficit del linguaggio-distonia sensibile al dopa-parkinsonismo da mutazione puntiforme di NR4A2","synonyms":["Sindrome del neurosviluppo correlata a NR4A2"]},"nl":{"name":"Neurologische ontwikkelingsachterstand - taalstoornis - doparesponsieve dystonie - parkinsonisme-syndroom door een NR4A2-puntmutatie","synonyms":["NR4A2-gerelateerd neurologische ontwikkelingssyndroom"]},"pt":{"name":"Síndrome de perturbação do desenvolvimento intelectual-perturbação da linguagem-distonia-parkinsonismo sensível a dopamina por mutação pontual em NR4A2","synonyms":["Síndrome do neurodesenvolvimento NR4A2-relacionada"]},"pl":{"name":"Zespół z opóźnieniem rozwojowym, zaburzeniami mowy, dystonią-parkinsonizmem wrażliwym na dopę, spowodowany mutacją punktową w genie NR4A2","synonyms":["NR4A2-related neurodevelopmental syndrome"]},"cs":{"name":"Syndrom spojený s bodovou mutací NR4A2 zahrnující vývojové opoždění, poruchu řeči, dopa responzivní dystonii a parkinsonizmus","synonyms":["NR4A2-related neurodevelopmental syndrome"]},"uk":{"name":"Синдром затримки розвитку-порушення мови-дофа-чутливої дистонії-паркінсонізму, зумовлений точковою мутацією NR4A2","synonyms":["NR4A2-асоційований синдром нейророзвитку"]}},"xrefs":[{"source":"OMIM","code":"619911","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"0971062","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5925124","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":660017,"name":"Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"NR4A2","name":"nuclear receptor subfamily 4 group A member 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"32366965[PMID]","hgnc":"7981","ensembl":"ENSG00000153234","omim":"601828","loci":["2q24.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}