{"orpha":65286,"name":"3q29 microdeletion syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["3q subtelomere deletion syndrome","3qter deletion","Del(3)(q29)","Monosomy 3q29","Monosomy 3qter"],"definition":"A recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-65286/","orphanet_url":"https://www.orpha.net/en/disease/detail/65286","names":{"fr":{"name":"Syndrome de microdélétion 3q29","synonyms":["Del(3)(q29)","Délétion 3q29","Délétion 3qter","Monosomie 3q29","Monosomie 3qter","Syndrome de délétion subtélomérique 3q"],"definition":"Le syndrome de microdélétion 3q29 est associé à une délétion subtélomérique récurrente de 3q et à des manifestations cliniques variables, dont un déficit intellectuel et une dysmorphie faciale."},"de":{"name":"Mikrodeletionssyndrom 3q29","synonyms":["Del(3)(q29)","Deletion 3qter","Monosomie 3q29","Monosomie3qter"],"definition":"Das 3q29-Mikrodeletion-Syndrom ist ein rekurrentes subtelomerisches Deletions-Syndrom, das sich klinisch unterschiedlich mit intellektuellem Defizit und Dysmorphien manifestiert.."},"es":{"name":"Síndrome de microdeleción 3q29","synonyms":["Del(3)(q29)","Deleción 3qter","Monosomía 3q29","Monosomía 3qter","Síndrome de deleción subtelomérica 3q"],"definition":"Es una deleción subtelomérica recurrente con manifestaciones clínicas variables, incluyendo déficit intelectual y rasgos dismórficos."},"it":{"name":"Sindrome da microdelezione 3q29","synonyms":["Del(3)(q29)","Delezione 3qter","Monosomia 3q29","Monosomia 3qter","Sindrome da delezione 3q subtelomerica"]},"nl":{"name":"3q29-microdeletiesyndroom","synonyms":["3q subtelomerische deletie-syndroom","3qter-deletie","Del(3)(q29)","Monosomie 3q29","Monosomie 3qter"],"definition":"Een recidiverende subtelomerische deletie-syndroom, gekenmerkt door variabele klinische manifestaties waaronder intellectuele achterstand en dysmorfe kenmerken."},"pt":{"name":"Síndrome de microdeleção 3q29","definition":"A síndrome de microdeleção 3q29 é uma síndrome de deleção subtelomérica recorrente com manifestações clínicas variáveis, incluindo défice cognitivo e características dismórficas."},"pl":{"name":"Zespół mikrodelecji 3q29","synonyms":["Del(3)(q29)","Delecja 3qter","Monosomia 3q29","Monosomia 3qter","Zespół subtelomerowej delecji 3q"]},"cs":{"name":"Mikrodeleční syndrom 3q29","synonyms":["Syndrom subtelomerické delece 3q","3qter delece","Del(3)(q29)","Monozomie 3q29","Monozomie 3qter"]},"uk":{"name":"Синдром мікроделеції 3q29","synonyms":["Синдром делеції субтеломера 3q","Видалення 3qter","Del(3)(q29)","Моносомія 3q29","Моносомія 3qter"],"definition":"A recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features."},"zh":{"name":"3q29微缺失综合征","synonyms":["3q亚端粒微小缺失综合征"]},"tr":{"name":"3q29 mikrodelesyon sendromu","synonyms":["Del (3) (q29)","Monozomi 3q29","3qter delesyon","Monozomi 3qter","3q subtelomer delesyon sendromu"]}},"xrefs":[{"source":"OMIM","code":"609425","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD44.30","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1617588865"},{"source":"MONDO","code":"0012269","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C567184","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2674949","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"11974","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262019,"name":"Partial deletion of the long arm of chromosome 3 syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"15918153[PMID]_20830797[PMID]_19460468[PMID]_19298871[PMID]","terms":[{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000232","label":"Everted lower lip vermilion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000426","label":"Prominent nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001000","label":"Abnormality of skin pigmentation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000717","label":"Autism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007302","label":"Bipolar affective disorder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000678","label":"Dental crowding","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000324","label":"Facial asymmetry","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000085","label":"Horseshoe kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001611","label":"Hypernasal speech","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000276","label":"Long face","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000275","label":"Narrow face","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000202","label":"Orofacial cleft","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000768","label":"Pectus carinatum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000709","label":"Psychosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002092","label":"Pulmonary arterial hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008416","label":"Six lumbar vertebrae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001682","label":"Subvalvular aortic stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001182","label":"Tapered finger","frequency":"Occasional (29-5%)","criteria":null}]}}