{"orpha":3306,"name":"Inverted duplicated chromosome 15 syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Duplication/inversion 15q11","Inv dup (15) syndrome","Isodicentric chromosome 15 syndrome","Non-distal tetrasomy 15q","Non-telomeric tetrasomy 15q","idic (15) syndrome"],"definition":"A rare, complex chromosomal duplication/inversion in the region 15q11.2-q13.1 characterized by early central hypotonia, global developmental delay and intellectual deficit, autistic behavior, and seizures.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3306/","orphanet_url":"https://www.orpha.net/en/disease/detail/3306","names":{"fr":{"name":"Syndrome de duplication inversée du chromosome 15","synonyms":["Duplication/inversion 15q11","Syndrome d'idic(15)","Syndrome d'inv dup (15)","Syndrome du chromosome 15 isodicentrique","Tétrasomie non distale 15q","Tétrasomie non télomérique 15q"],"definition":"Duplication/inversion chromosomique rare et complexe dans la région 15q11.2-q13.1 qui se caractérise par une hypotonie centrale précoce, un retard global de développement, une déficience intellectuelle, une épilepsie et des troubles du spectre autistique (TSA)."},"de":{"name":"Inversion/Duplikation Chromosom 15","synonyms":["Chromosom 15, isodizentrisches","Duplikation/Inversion 15q11","Duplikationssyndrom Chromosom 15q11.2-13.1","Inv dup (15)-Syndrom","Tetrasomie 15q, nicht distal","Tetrasomie 15q, nicht-telomerische","dup15q-Syndrom","idic(15)-Syndrom"],"definition":"Eine komplexe chromosomale Duplikation/Inversion in der Region 15q11.2-q13.1, die durch frühe zentrale Hypotonie, globale Entwicklungsverzögerung und intellektuelle Defizite, autistisches Verhalten und Krampfanfälle gekennzeichnet ist."},"es":{"name":"Síndrome de inversión duplicación del cromosoma 15","synonyms":["Duplicación/inversión 15q11","Síndrome Invdup(15)","Síndrome del cromosoma 15 isodicéntrico","Síndrome idic(15)","Tetrasomía intersticial 15q","Tetrasomía no terminal 15q"],"definition":"Es una duplicación/inversión cromosómica compleja y poco frecuente en la región 15q11.2-q13.1 caracterizada por hipotonía central temprana, retraso global del desarrollo psicomotor y déficit intelectual, conducta autista y crisis."},"it":{"name":"Sindrome da inversione/duplicazione del cromosoma 15","synonyms":["Tetrasomia 15q non distale"],"definition":"Si tratta di una duplicazione/inversione cromosomica complessa rara nella regione 15q11.2-q13.1, caratterizzata da ipotonia centrale precoce, ritardo dello sviluppo globale, deficit intellettivo, tratti autistici e crisi epilettiche."},"nl":{"name":"Inversie/duplicatie van chromosoom 15-syndroom","synonyms":["Duplicatie/inversie 15q11","Inv dup (15)-syndroom","Isodicentrisch chromosoom 15-syndroom","Niet-distale tetrasomie 15q","Niet-telomerische tetrasomie 15q","idic (15)-syndroom"],"definition":"Een zeldzame, complexe chromosomale duplicatie/inversie in de regio 15q11.2-q13.1, gekarakteriseerd door vroege centrale hypotonie, algehele ontwikkelingsachterstand en intellectuele achterstand, autistisch gedrag, en insulten."},"pt":{"name":"Síndrome de inversão duplicação do cromossoma 15","synonyms":["Tetrassomia 15q"]},"pl":{"name":"Duplikacja/inwersja 15q11","synonyms":["idic(15)","Interstycjalna tetrasomia 15q","Inv dup(15)","Izodicentryczny chromosom 15","Nietelomerowa tetrasomia 15q"]},"cs":{"name":"Duplikace/inverze 15q11","synonyms":["Inv dup(15)","Izodicentrický chromozom 15","Non-distální tetrazomie 15q","Non-telomerická tetrazomie 15q","Idic(15)"]},"uk":{"name":"Синдром інвертованої дуплікації хромосоми 15","synonyms":["Дуплікація/інверсія 15q11","idic (15) синдром","Синдром Inv dup (15)","Синдром ізодицентричної хромосоми 15","Недистальна тетрасомія 15q","Нетеломерна тетрасомія 15q"],"definition":"A rare, complex chromosomal duplication/inversion in the region 15q11.2-q13.1 characterized by early central hypotonia, global developmental delay and intellectual deficit, autistic behavior, and seizures."},"zh":{"name":"15号染色体反向重复综合征","synonyms":["15号染色体同形双着丝粒综合征"]},"tr":{"name":"İnvert duplike kromozom 15 sendromu","synonyms":["idic (15) sendromu","Inv dup (15) sendromu","Distal olmayan tetrazomi 15q","Duplikasyon/inversiyon 15q11","Telomerik olmayan tetrazomi 15q","İzodikentrik kromozom 15 sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q99.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018027","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C580205","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3711376","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5153","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10081682","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":263708,"name":"Complex chromosomal rearrangement syndrome","classifications":[147,156]},{"orpha":180772,"name":"Rare disease with autism","classifications":[156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable","Unknown"],"onset":["Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":3.33,"area":"Worldwide","status":"Validated","source":"11579431[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-02-19","source":"19019226[PMID]_24239951[PMID]","terms":[{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002307","label":"Drooling","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000733","label":"Abnormal repetitive mannerisms","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010529","label":"Echolalia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000752","label":"Hyperactivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012758","label":"Neurodevelopmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012169","label":"Self-biting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006863","label":"Severe expressive language delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011352","label":"Severe receptive language delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004691","label":"2-3 toe syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012443","label":"Abnormality of brain morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000455","label":"Broad nasal tip","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000135","label":"Hypogonadism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000664","label":"Synophrys","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000133","label":"Gonadal dysgenesis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100790","label":"Hernia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000826","label":"Precocious puberty","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001636","label":"Tetralogy of Fallot","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000122","label":"Unilateral renal agenesis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Excluded (0%)","criteria":null}]}}