{"orpha":689422,"name":"Okur-Chung neurodevelopmental syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-689422/","orphanet_url":"https://www.orpha.net/en/disease/detail/689422","names":{"fr":{"name":"Syndrome neurodéveloppemental d'Okur-Chung","synonyms":["Syndrome du neuro-developpement Okur-Chung"]},"de":{"name":"Okur-Chung-Syndrom","synonyms":["CSNK2A1-assoziierte neurologische Entwicklungsstörung","Syndromale neurologische Entwicklungsstörung Typ Okur-Chung"]},"es":{"name":"Síndrome del neurodesarrollo de Okur-Chung"},"it":{"name":"Malattia del neurosviluppo di Okur-Chung"},"nl":{"name":"Neurologisch ontwikkelingssyndroom van Okur-Chung"},"pt":{"name":"Síndrome Okur-Chung do neurodesenvolvimento"},"pl":{"name":"Zespół neurorozwojowy Okura-Chunga"},"cs":{"name":"Okur-Chungové neurovývojový syndrom","synonyms":["Okurův-Chungové neurovývojový syndrom"]}},"xrefs":[{"source":"OMIM","code":"617062","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":false},{"source":"MONDO","code":"14893","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":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":48.0,"area":"Worldwide","status":"Validated","source":"38444259[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"38444259[PMID]_ORPHANET"}],"phenotypes":null}