{"orpha":708208,"name":"Developmental delay-white matter abnormalities-strabismus-recurrent respiratory tract infections syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["POLR2A-related neurodevelopmental disorder"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-708208/","orphanet_url":"https://www.orpha.net/en/disease/detail/708208","names":{"fr":{"name":"Syndrome de retard du développement-anomalies de la substance blanche-strabisme-infections récurrentes des voies respiratoires","synonyms":["Trouble du neurodéveloppement associé à POLR2A"]},"de":{"name":"Entwicklungsverzögerung-Anomalien der weißen Substanz-Strabismus-rezidivierende Atemwegsinfektionen-Syndrom","synonyms":["Neurologische Entwicklungsstörung, POLR2A-assoziierte"]},"es":{"name":"Síndrome de retraso del desarrollo-anomalías de la sustancia blanca-estrabismo-infecciones recurrentes de las vías respiratorias","synonyms":["Trastorno del neurodesarrollo asociado a POLR2A"]},"it":{"name":"Sindrome ritardo dello sviluppo-anomalie della sostanza bianca-strabismo-infezioni ricorrenti delle vie respiratorie","synonyms":["Malattia del neurosviluppo correlata a POLR2A"]},"nl":{"name":"Ontwikkelingsachterstand - wittestofafwijkingen - strabisme - recidiverende luchtweginfecties-syndroom","synonyms":["POLR2A-gerelateerde neurologische ontwikkelingsstoornis"]},"pt":{"name":"Developmental delay-white matter abnormalities-strabismus-recurrent respiratory tract infections syndrome"},"pl":{"name":"Zespół z opóźnieniem rozwoju, nieprawidłowościami istoty białej, zezem i nawracającymi infekcjami dróg oddechowych","synonyms":["POLR2A-related neurodevelopmental disorder"]},"cs":{"name":"Developmental delay-white matter abnormalities-strabismus-recurrent respiratory tract infections syndrome","synonyms":["POLR2A-related neurodevelopmental disorder"]}},"xrefs":[{"source":"OMIM","code":"618603","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":269531,"name":"Other syndrome with a central nervous system malformation as a major feature","classifications":[147,181]}],"children":[],"genes":[{"symbol":"POLR2A","name":"RNA polymerase II subunit A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31353023[PMID]","hgnc":"9187","ensembl":"ENSG00000181222","omim":"180660","loci":["17p13.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":16.0,"area":"Worldwide","status":"Validated","source":"31353023[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"31353023[PMID]_ORPHANET"}],"phenotypes":null}