{"orpha":1444,"name":"Ring chromosome 20 syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Ring 20","Ring chromosome 20"],"definition":"A rare chromosomal disorder, characterized by childhood onset drug resistant epilepsy with typical electroencephalographic findings (EEG), mild to severe intellectual disability and behavioral problems.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1444/","orphanet_url":"https://www.orpha.net/en/disease/detail/1444","names":{"fr":{"name":"Syndrome du chromosome 20 en anneau","synonyms":["Chromosome 20 en anneau"],"definition":"Anomalie chromosomique rare, caractérisée par une épilepsie résistante aux médicaments, apparaissant dans l'enfance, un tracé d'EEG typique, une déficience intellectuelle légère à sévère et des problèmes de comportement."},"de":{"name":"Ringchromosom-20-Syndrom","synonyms":["Ringchromosom 20"],"definition":"Eine seltene Chromosomenstörung, die durch eine im Kindesalter auftretende medikamentenresistente Epilepsie mit typischen elektroenzephalographischen Befunden (EEG), leichter bis schwerer Intelligenzminderung und Verhaltensproblemen gekennzeichnet ist."},"es":{"name":"Síndrome del cromosoma 20 en anillo","synonyms":["Anillo 20","Cromosoma 20 en anillo"],"definition":"Es un trastorno cromosómico poco frecuente caracterizado por epilepsia farmacorresistente de inicio en la infancia con hallazgos electroencefalográficos (EEG) típicos, discapacidad intelectual de leve a grave y trastornos de conducta."},"it":{"name":"Sindrome cromosoma 20 ad anello","definition":"La sindrome del cromosoma 20 ad anello (R20) è una malattia cromosomica rara, caratterizzata da epilessia ad esordio infantile resistente ai farmaci, con anomalie elettroencefalografiche (EEG) tipiche, disabilità intellettiva lieve-grave e problemi comportamentali."},"nl":{"name":"Ringchromosoom 20-syndroom","synonyms":["Ring 20","Ringchromosoom 20"],"definition":"Een zeldzame chromosomale aandoening, gekenmerkt door in de kindertijd optredende medicatieresistente epilepsie met typische elektro-encefalografische bevindingen (EEG), milde tot ernstige intellectuele achterstand, en gedragsproblemen."},"pt":{"name":"Síndrome do cromossoma 20 em anel","synonyms":["Anel do cromossoma 20"]},"pl":{"name":"Chromosom pierścieniowy 20","synonyms":["Ring 20","Ring chromosome 20"]},"cs":{"name":"Ring chromozom 20","synonyms":["Ring 20","Ring chromosome 20"]},"uk":{"name":"Синдром кільцевої хромосоми 20","synonyms":["Кільце 20","Кільцева хромосома 20"],"definition":"A rare chromosomal disorder, characterized by childhood onset drug resistant epilepsy with typical electroencephalographic findings (EEG), mild to severe intellectual disability and behavioral problems."},"zh":{"name":"环状20号染色体综合征","synonyms":["环状20号染色体"]},"tr":{"name":"Halka kromozom 20 sendromu","synonyms":["Halka 20","Halka kromozomu 20"]}},"xrefs":[{"source":"ICD-10","code":"Q93.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD7Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1840852397"},{"source":"MONDO","code":"0015436","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C580424","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265482","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1334","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":166469,"name":"Chromosomal anomaly with epilepsy as a major feature","classifications":[156,181]},{"orpha":363203,"name":"Ring chromosome syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Adolescent","Adult","Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":50.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-11-20","source":"33363513[PMID]_20972251[PMID]_22424860[PMID]","terms":[{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0032671","label":"Non-convulsive status epilepticus without coma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200134","label":"Epileptic encephalopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011153","label":"Focal motor seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001268","label":"Mental deterioration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031951","label":"Nocturnal seizures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012758","label":"Neurodevelopmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000736","label":"Short attention span","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Occasional (29-5%)","criteria":null}]}}