{"orpha":261349,"name":"2p15p16.1 microdeletion syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Del(2)(p15p16.1)","Monosomy 2p15p16.1"],"definition":"2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-261349/","orphanet_url":"https://www.orpha.net/en/disease/detail/261349","names":{"fr":{"name":"Syndrome de microdélétion 2p15p16.1","synonyms":["Del(2)(p15p16.1)","Monosomie 2p15p16.1"],"definition":"Le syndrome de microdélétion 2p15p16.1, récemment décrit, se caractérise par un retard du développement et une dysmorphie faciale."},"de":{"name":"Mikrodeletionssyndrom 2p15p16.1","synonyms":["Del(2)(p15p16.1)","Monosomie 2p15-p16.1"],"definition":"Das kürzlich beschriebene 2p15p16.1-Mikrodeletion-Syndrom ist gekennzeichnet durch verzögerte Entwicklung und faziale Dysmorphien."},"es":{"name":"Síndrome de microdeleción 2p15p16.1","synonyms":["Del(2)(p15p16.1)","Monosomía 2p15p16.1"],"definition":"El síndrome de microdeleción 2p15p16.1 es un síndrome descrito recientemente caracterizado por un retraso psicomotor y dismorfia facial."},"it":{"name":"Sindrome da microdelezione 2p15p16.1","synonyms":["Del(2)(p15p16.1)","Monosomia 2p15-p16.1","Monosomia 2p15p16.1","Sindrome da microdelezione 2p15-p16.1"],"definition":"La sindrome da microdelezione 2p15p16.1, descritta di recente, è caratterizzata da ritardo dello sviluppo e dismorfismi facciali."},"nl":{"name":"2p15p16.1-microdeletiesyndroom","synonyms":["Del(2)(p15p16.1)","Monosomie 2p15p16.1"],"definition":"Een syndroom, gekenmerkt door ontwikkelingsachterstand en faciale dysmorfie."},"pt":{"name":"Síndrome de microdeleção 2p15p16.1","definition":"A síndrome da microdeleção 2p15p16.1 é uma síndrome recentemente descrita caracterizada por atraso do desenvolvimento e dismorfismo facial."},"pl":{"name":"Zespół mikrodelecji 2p15p16.1","synonyms":["Del(2)(p15p16.1)","Monosomia 2p15p16.1","Monosomia 2p15-p16.1","Zespół mikrodelecji 2p15-p16.1"]},"cs":{"name":"Syndrom mikrodelece 2p15p16.1","synonyms":["Del(2)(p15p16.1)","Monozomie 2p15-p16.1","Monozomie 2p15p16.1","2p15-p16.1 mikrodeleční syndrom"]},"uk":{"name":"Синдром мікроделеції 2p15p16.1","synonyms":["Del(2)(p15p16.1)","Моносомія 2p15p16.1"],"definition":"2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism."},"zh":{"name":"2p15p16.1微缺失综合征","synonyms":["2p15p16.1单体"],"definition":"2p15p16.1微缺失综合征是近年来发现的一种以发育迟缓和面部畸形为特征的综合征。"},"tr":{"name":"2p15p16.1 mikrodelesyon sendromu","synonyms":["Del(2)(p15p16.1)","Monozomi 2p15p16.1"]}},"xrefs":[{"source":"OMIM","code":"612513","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD44.21","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1407509131"},{"source":"MONDO","code":"0012916","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4304538","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"13391","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":261866,"name":"Partial deletion of the short arm of chromosome 2 syndrome","classifications":[147,156]}],"children":[],"genes":[{"symbol":"BCL11A","name":"BCL11 transcription factor A","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"25979662[PMID]","hgnc":"13221","ensembl":"ENSG00000119866","omim":"606557","loci":["2p16.1"]},{"symbol":"REL","name":"REL proto-oncogene, NF-kB subunit","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"27699255[PMID]","hgnc":"9954","ensembl":"ENSG00000162924","omim":"164910","loci":["2p16.1"]},{"symbol":"XPO1","name":"exportin 1","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"40819229[PMID]_27699255[PMID]","hgnc":"12825","ensembl":"ENSG00000082898","omim":"602559","loci":["2p15"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":11.0,"area":"Worldwide","status":"Validated","source":"24810580[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24810580[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"20799320[PMID]","terms":[{"hpo":"HP:0000581","label":"Blepharophimosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000232","label":"Everted lower lip vermilion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000609","label":"Optic nerve hypoplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000426","label":"Prominent nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000319","label":"Smooth philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000717","label":"Autism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000527","label":"Long eyelashes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002061","label":"Lower limb spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001840","label":"Metatarsus adductus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000341","label":"Narrow forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005274","label":"Prominent nasal tip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000278","label":"Retrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000340","label":"Sloping forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001182","label":"Tapered finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006610","label":"Wide intermamillary distance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001659","label":"Aortic regurgitation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007598","label":"Bilateral single transverse palmar creases","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001321","label":"Cerebellar hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008734","label":"Decreased testicular size","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100625","label":"Enlarged thorax","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010628","label":"Facial palsy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002213","label":"Fine hair","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000771","label":"Gynecomastia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional 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