{"orpha":261295,"name":"20p12.3 microdeletion syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Del(20)(p12.3)","Monosomy 20p12.3"],"definition":"20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome, variable developmental delay and facial dysmorphism.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-261295/","orphanet_url":"https://www.orpha.net/en/disease/detail/261295","names":{"fr":{"name":"Syndrome de microdélétion 20p12.3","synonyms":["Del(20)(p12.3)","Monosomie 20p12.3"],"definition":"Le syndrome de microdélétion 20p12.3, récemment décrit, se caractérise par un syndrome de Wolff-Parkinson-White , un retard du développement et une dysmorphie faciale."},"de":{"name":"Mikrodeletionssyndrom 20p12.3","synonyms":["Del(20)(p12.3)","Monosomie 20p12.3"],"definition":"Das kürzlich beschriebene 20p12.3-Mikrodeletion-Syndrom ist gekennzeichnet durch Wolff-Parkinson-White-Syndrom (s. dort), unterschiedlich stark retardierte Entwicklung und faziale Dysmorphien."},"es":{"name":"Síndrome de microdeleción 20p12.3","synonyms":["Del(20)(p12.3)","Monosomía 20p12.3"],"definition":"El síndrome de microdeleción 20p12.3 es un síndrome descrito recientemente que se caracteriza por un síndrome de Wolff-Parkinson-White, un retraso psicomotor variable y dismorfia facial."},"it":{"name":"Sindrome da microdelezione 20p12.3","synonyms":["Del(20)(p12.3)","Monosomia 20p12.3"],"definition":"La sindrome da microdelezione 20p12.3, descritta di recente, è caratterizzata dalla sindrome di Parkinson-White (si veda questo termine) associata ad un ritardo variabile dello sviluppo e a dismorfismi facciali."},"nl":{"name":"20p12.3-microdeletiesyndroom","synonyms":["Del(20)(p12.3)","Monosomie 20p12.3"],"definition":"Een syndroom, gekenmerkt door syndroom van Wolff-Parkinson-White, variabele ontwikkelingsachterstand, en faciale dysmorfie."},"pt":{"name":"Síndrome de microdeleção 20p12.3","definition":"A síndrome de microdeleção 20p12.3 é uma síndrome recentemente descrita caracterizada por síndrome de Wolff-Parkinson-White (ver este termo), atraso do desenvolvimento variável e dismorfismo facial."},"pl":{"name":"Zespół mikrodelecji 20p12.3","synonyms":["Del(20)(p12.3)","Monosomia 20p12.3"]},"cs":{"name":"Syndrom mikrodelece 20p12.3","synonyms":["Del(20)(p12.3)","Monozomie 20p12.3"]},"uk":{"name":"Синдром мікроделеції 20p12.3","synonyms":["Del(20)(p12.3)","Моносомія 20p12.3"],"definition":"20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome (see this term), variable developmental delay and facial dysmorphism."},"zh":{"name":"20p12.3微缺失综合征","synonyms":["20p12.3单体"],"definition":"20p12.3微缺失综合征是新近报道的一种综合征，以Wolff-Parkinson-White综合征(见该词条)、不同程度的发育迟缓和面部畸形为特征。"},"tr":{"name":"20p12.3 mikrodelesyon sendromu","synonyms":["Del (20) (p12.3)","Monozomi 20p12.3"]}},"xrefs":[{"source":"OMIM","code":"617877","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD44.L1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2144485162"},{"source":"MONDO","code":"0016841","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4304539","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12492","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":261992,"name":"Partial deletion of the short arm of chromosome 20 syndrome","classifications":[147,156]}],"children":[],"genes":[{"symbol":"BMP2","name":"bone morphogenetic protein 2","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"18812404[PMID]_21671386[PMID]","hgnc":"1069","ensembl":"ENSG00000125845","omim":"112261","loci":["20p12.3"]}],"genes_via_subtypes":[],"inheritance":["Not applicable","Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"18812404[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_18812404[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"18812404[PMID]","terms":[{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000327","label":"Hypoplasia of the maxilla","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001716","label":"Wolff-Parkinson-White syndrome","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010059","label":"Broad hallux phalanx","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011304","label":"Broad thumb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000293","label":"Full cheeks","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008551","label":"Microtia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000768","label":"Pectus carinatum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000391","label":"Thickened helices","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Occasional (29-5%)","criteria":null}]}}