{"orpha":289513,"name":"12q15q21 microdeletion syndrome","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Del(12)(q15)(q21)","Deletion 12q15q21","Monosomy 12q15q21"],"definition":null,"note":"This disease is described under Intellectual disability-nasal speech-craniofacial dysmorphism syndrome","url":"https://raremap.alftech.space/d/ORPHA-289513/","orphanet_url":"https://www.orpha.net/en/disease/detail/289513","names":{"fr":{"name":"Syndrome de microdélétion 12q15q21","synonyms":["Del(12)(q15)(q21)","Délétion 12q15q21","Monosomie 12q15q21"]},"de":{"name":"Mikrodeletionssyndrom 12q15q21.1","synonyms":["Del(12)(q15)(q21.1)","Deletion 12q15q21.1","Monosomie 12q15q21.1"]},"es":{"name":"Síndrome de microdeleción 12q15q21","synonyms":["Del(12)(q15)(q21)","Deleción 12q15q21","Monosomía 12q15q21"]},"it":{"name":"Sindrome da microdelezione 12q15q21.1","synonyms":["Del(12)(q15)(q21.1)","Delezione 12q15q21.1","Monosomia 12q15q21.1"]},"nl":{"name":"12q15q21-microdeletiesyndroom","synonyms":["Del(12)(q15)(q21)","Deletie 12q15q21","Monosomie 12q15q21"]},"pt":{"name":"Síndrome de microdeleção 12q15q21","synonyms":["Del(12)(q15)(q21)","Deleção 12q15q21","Monossomia 12q15q21"]},"pl":{"name":"Zespół mikrodelecji 12q15q21.1","synonyms":["Del(12)(q15)(q21.1)","Delecja 12q15q21.1","Monosomia 12q15q21.1"]},"cs":{"name":"Mikrodeleční syndrom 12q15q21.1","synonyms":["Del(12)(q15)(q21.1)","Delece 12q15q21.1","Monozomie 12q15q21.1"]},"uk":{"name":"Синдром мікроделеції 12q15q21.1","synonyms":["Del(12)(q15)(q21.1)","Делеція 12q15q21.1","Моносомія 12q15q21.1"],"definition":"12q15q21.1 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 12, with a highly variable phenotype, typically characterized by developmental delay, learning disability, intra-uterine and postnatal growth retardation, and mild facial dysmorphism that changes with age. Nasal speech and hypothyroidism are also associated."},"zh":{"name":"12q15q21.1微缺失综合征","synonyms":["12q15q21.1单体"],"definition":"12q15q21.1微缺失综合征是一种罕见的由12号染色体长臂部分缺失引起的染色体异常综合征，表型高度可变，其典型特征是发育迟缓、学习障碍、宫内和产后发育迟缓，及随年龄变化的轻度面部畸形。鼻音很重和甲状腺功能减退也有关联。"},"tr":{"name":"12q15q21.1 mikrodelesyon sendromu","synonyms":["Del(12)(q15)(q21.1)","Delesyon 12q15q21.1","Monozomi 12q15q21.1"]}},"xrefs":[{"source":"OMIM","code":"618608","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017334","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4518344","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":697760,"name":"Intellectual disability-nasal speech-craniofacial dysmorphism syndrome","classifications":[147,156,181]},{"orpha":261821,"name":"Partial deletion of the long arm of chromosome 12 syndrome","classifications":[147,156]}],"children":[],"genes":[{"symbol":"CNOT2","name":"CCR4-NOT transcription complex subunit 2","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"31145527[PMID]","hgnc":"7878","ensembl":"ENSG00000111596","omim":"604909","loci":["12q15"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":6.0,"area":"Worldwide","status":"Validated","source":"28159701[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_28159701[PMID]"}],"phenotypes":null}