{"orpha":500163,"name":"Witteveen-Kolk syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["SIN3A-related intellectual disability syndrome","WITKOS"],"definition":"A rare genetic neurodevelopmental syndrome characterized by mild intellectual disability, developmental delay, dysmorphic facial features, growth- and feeding problems, hypotonia, epilepsy, behavioral problems and a variety of congenital abnormalities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-500163/","orphanet_url":"https://www.orpha.net/en/disease/detail/500163","names":{"fr":{"name":"Syndrome de Witteveen-Kolk","synonyms":["Syndrome de déficience intellectuelle associé à SIN3A","WITKOS"],"definition":"Trouble neurodéveloppemental génétique rare caractérisé par une déficience intellectuelle légère, un retard de développement, une dysmorphie faciale, des troubles de croissance et alimentaires, une hypotonie, une épilepsie, des troubles de comportement et diverses malformations congénitales."},"de":{"name":"Witteveen-Kolk-Syndrom","synonyms":["Intelligenzminderung-Syndrom, SIN3A-assoziiertes","WITKOS"],"definition":"Ein syndromale neurologische Entwicklungsstörung, gekennzeichnet durch leichte Intelligenzminderung, Entwicklungsverzögerung, Gesichtsdysmorphien, Wachstums- und Fütterungsstörungen, Hypotonie, Epilepsie, Verhaltensstörungen und eine Vielzahl von angeborenen Anomalien."},"es":{"name":"Síndrome de Witteveen-Kolk","definition":"Es un síndrome del neurodesarrollo, de origen genético y poco frecuente, caracterizado por leve discapacidad intelectual, retraso psicomotor, rasgos faciales dismórficos, problemas de crecimiento y de alimentación, hipotonía, epilepsia, trastornos de conducta y diversas anomalías congénitas."},"it":{"name":"Sidrome di Witteveen-Kolk","synonyms":["Sindrome da disabilità intellettiva correlata a SIN3A","WITKOS"],"definition":"Si tratta di una malattia genetica rara del neurosviluppo, caratterizzata da disabilità intellettiva lieve, ritardo dello sviluppo, dismorfismi facciali, ritardo della crescita, difficoltà di alimentazione, ipotonia, epilessia, problemi comportamentali e diverse anomalie congenite."},"nl":{"name":"Syndroom van Witteveen-Kolk","synonyms":["SIN3A-gerelateerde intellectuele achterstand-syndroom","WITKOS"],"definition":"Een zeldzaam, genetisch syndroom van neurologische ontwikkelingsachterstand, gekarakteriseerd door milde intellectuele achterstand, ontwikkelingsachterstand, dysmorfe gelaatskenmerken, groei- en voedingsproblemen, hypotonie, epilepsie, gedragsproblemen, en allerlei congenitale anomalieën."},"pt":{"name":"Síndrome Witteveen-Kolk","synonyms":["Síndrome de deficiência intelectual relacionada ao SIN3A"]},"pl":{"name":"Zespół Witteveen i Kolk","synonyms":["SIN3A-related intellectual disability syndrome","WITKOS"]},"cs":{"name":"SIN3A-vázaná mentální retardace","synonyms":["SIN3A-related intellectual disability syndrome","WITKOS"]},"uk":{"name":"Синдром Віттевіна-Колька","synonyms":["Синдром інтелектуальної недостатності, повязаний з SIN3A","WITKOS"],"definition":"A rare genetic neurodevelopmental syndrome characterized by mild intellectual disability, developmental delay, dysmorphic facial features, growth- and feeding problems, hypotonia, epilepsy, behavioral problems and a variety of congenital abnormalities."},"zh":{"name":"SIN3A相关智力障碍综合征","synonyms":["SIN3A-related intellectual disability syndrome","WITKOS"]},"tr":{"name":"SIN3A-ilişkili zihinsel yetersizlik sendromu","synonyms":["SIN3A-related intellectual disability syndrome","WITKOS"]}},"xrefs":[{"source":"OMIM","code":"613406","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0044699","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4310804","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":[{"orpha":94065,"name":"15q24 microdeletion syndrome","type":"Etiological subtype"},{"orpha":500166,"name":"SIN3-related intellectual disability syndrome due to a point mutation","type":"Etiological subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"SIN3B","name":"SIN3 transcription regulator family member B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"33811806[PMID]","hgnc":"19354","ensembl":"ENSG00000127511","omim":"607777","loci":["19p13.11"],"via":{"orpha":500166,"name":"SIN3-related intellectual disability syndrome due to a point mutation"}},{"symbol":"SIN3A","name":"SIN3 transcription regulator family member A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27399968[PMID]","hgnc":"19353","ensembl":"ENSG00000169375","omim":"607776","loci":["15q24.2"],"via":{"orpha":500166,"name":"SIN3-related intellectual disability syndrome due to a point mutation"}},{"symbol":"SIN3A","name":"SIN3 transcription regulator family member A","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"27399968[PMID]","hgnc":"19353","ensembl":"ENSG00000169375","omim":"607776","loci":["15q24.2"],"via":{"orpha":94065,"name":"15q24 microdeletion syndrome"}}],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":40.0,"area":"Worldwide","status":"Validated","source":"27399968[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27399968[PMID]"}],"phenotypes":null}