{"orpha":401935,"name":"14q24.1q24.3 microdeletion syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Del(14)(q24.1q24.3)","Monosomy 14q24.1q24.3"],"definition":"14q24.1q24.3 microdeletion syndrome is a rare, genetic, syndromic intellectual disability characterized by mild intellectual disability, delayed speech development, congenital heart defects, brachydactyly and dysmorphic facial features.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-401935/","orphanet_url":"https://www.orpha.net/en/disease/detail/401935","names":{"fr":{"name":"Syndrome de microdélétion 14q24.1q24.3","synonyms":["Del(14)(q24.1q24.3)","Monosomie 14q24.1q24.3"],"definition":"Déficience intellectuelle syndromique rare, d'origine génétique, caractérisée par une déficience intellectuelle légère, un retard de développement de la parole, des malformations cardiaques congénitales, une brachydactylie et une dysmorphie faciale."},"de":{"name":"Mikrodeletionssyndrom 14q24.1q24.3","synonyms":["Del(14)(q24.1q24.3)","Monosomie 14q24.1q24.3"]},"es":{"name":"Síndrome de microdeleción 14q24.1q24.3","synonyms":["Del(14)(q24.1q24.3)","Monosomía 14q24.1q24.3"],"definition":"El síndrome de microdeleción 14q24.1q24.3, es un trastorno sindrómico poco frecuente, caracterizado por discapacidad intelectual leve, retraso del habla, defectos cardíacos congénitos, braquidactilia y rasgos faciales dismórficos."},"it":{"name":"Sindrome da microdelezione 14q24.1q24.3","synonyms":["Del(14)(q24.1q24.3)","Monosomia 14q24.1q24.3"],"definition":"La sindrome da microdelezione 14q24.1q24.3 è una disabilità intellettiva sindromica genetica rara, caratterizzata da disabilità intellettiva lieve, ritardo nello sviluppo del linguaggio, cardiopatie congenite, brachidattilia e dismorfismi facciali."},"nl":{"name":"14q24.1q24.3-microdeletiesyndroom","synonyms":["Del(14)(q24.1q24.3)","Monosomie 14q24.1q24.3"],"definition":"14q24.1q24.3 microdeletiesyndroom is een zeldzame, genetische, syndromale intellectuele invaliditeit die gekarakteriseerd wordt door milde intellectuele achterstand, vertraagde spraakontwikkeling, congenitale hartdefecten, brachydactylie en dysmorfe gelaatskenmerken."},"pt":{"name":"Síndrome de microdeleção 14q24.1q24.3"},"pl":{"name":"Zespół mikrodelecji 14q24.1q24.3","synonyms":["Del(14)(q24.1q24.3)","Monosomia 14q24.1q24.3"],"definition":"*Zespół mikrodelecji 14q24.1q24.3 jest rzadkim, genetycznie uwarunkowanym zespołem niepełnosprawności intelektualnej; charakteryzuje się niepełnosprawnością intelektualną lekkiego stopnia, opóźnionym rozwojem mowy, wrodzonymi wadami serca, brachydaktylią i dysmorficznymi cechami twarzy"},"cs":{"name":"Mikrodeleční syndrom 14q24.1q24.3","synonyms":["Del(14)(q24.1q24.3)","Monozomie 14q24.1q24.3"]},"uk":{"name":"Синдром мікроделеції 14q24.1q24.3","synonyms":["Del(14)(q24.1q24.3)","Моносомія 14q24.1q24.3"],"definition":"14q24.1q24.3 microdeletion syndrome is a rare, genetic, syndromic intellectual disability characterized by mild intellectual disability, delayed speech development, congenital heart defects, brachydactyly and dysmorphic facial features."},"zh":{"name":"14q24.1q24.3微缺失综合症","synonyms":["14q24.1q24.3单体"],"definition":"14q24.1q24.3微缺失综合征是一种罕见的遗传性智力障碍综合征，主要表现为智力障碍，语言发育迟缓，先天性心脏病，短指畸形以及面部畸形。"},"tr":{"name":"14q24.1q24.3 mikrodelesyon sendromu","synonyms":["Del(14)(q24.1q24.3)","Monozomi 14q24.1q24.3"]}},"xrefs":[{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018429","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4750911","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"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]},{"orpha":262110,"name":"Partial deletion of the long arm of chromosome 14 syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"24357125[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24357125[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-12-04","source":"24357125[PMID]","terms":[{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009778","label":"Short thumb","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000219","label":"Thin upper lip vermilion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003083","label":"Dislocated radial head","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000086","label":"Ectopic kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002566","label":"Intestinal malrotation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005852","label":"Limited elbow extension and supination","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000426","label":"Prominent nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004935","label":"Pulmonary artery atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000319","label":"Smooth philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000664","label":"Synophrys","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001660","label":"Truncus arteriosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Occasional (29-5%)","criteria":null}]}}