{"orpha":96152,"name":"OBSOLETE: Distal monosomy 20q","type":"Malformation syndrome","group":"Disorder","status":"inactive","flags":["Obsolete entity"],"synonyms":["OBSOLETE: Distal deletion 20q","OBSOLETE: Monosomy 20qter","OBSOLETE: Telomeric deletion 20q"],"definition":null,"note":"This entity has been obsoleted from the Orphanet nomenclature of rare diseases.<br/><br/>Instead, consider using 20q13.33 microdeletion syndrome","url":"https://raremap.alftech.space/d/ORPHA-96152/","orphanet_url":"https://www.orpha.net/en/disease/detail/96152","names":{"fr":{"name":"OBSOLETE : Monosomie distale 20q","synonyms":["OBSOLETE : Délétion distale 20p","OBSOLETE : Délétion télomérique 20q","OBSOLETE : Monosomie 20qter"]},"de":{"name":"OBSOLET: Monosomie 20q, distale","synonyms":["OBSOLET: Monosomie 20qter","OBSOLET: Deletion 20q, distale"]},"es":{"name":"OBSOLETO: Monosomía terminal 20q","synonyms":["OBSOLETO: Deleción telomérica 20q","OBSOLETO: Deleción terminal 20q","OBSOLETO: Monosomía 20qter"]},"it":{"name":"OBSOLETO: Monosomia distale 20q","synonyms":["OBSOLETO: Delezione 20q distale","OBSOLETO: Delezione 20q telomerica","OBSOLETO: Monosomia 20qter"]},"nl":{"name":"OBSOLEET: Distale monosomie 20q","synonyms":["OBSOLEET: Distale deletie 20q","OBSOLEET: Monosomie 20qter","OBSOLEET: Telomerische deletie 20q"]},"pt":{"name":"OBSOLETO: Monossomia distal 20q","synonyms":["OBSOLETO: Deleção distal 20q","OBSOLETO: Monossomia 20qter"]},"pl":{"name":"NIEAKTUALNE: Dystalna monosomia 20q","synonyms":["NIEAKTUALNE: Delecja dystalna 20q","NIEAKTUALNE: Delecja telomerowa 20q","NIEAKTUALNE: Monosomia 20qter"]},"cs":{"name":"NEAKTUÁLNÍ: Distální monozomie 20q","synonyms":["NEAKTUÁLNÍ: Distální delece 20q","NEAKTUÁLNÍ: Monozomie 20qter","NEAKTUÁLNÍ: Telomerická delece 20q"]},"uk":{"name":"ЗАСТАРІЛО: Дистальна моносомія 20q","synonyms":["ЗАСТАРІЛО: Дистальна делеція 20q","ЗАСТАРІЛО: Моносомія 20qter","ЗАСТАРІЛО: Делеція теломерної ділянки 20q"]},"zh":{"name":"20号染色体长臂远端单体","synonyms":["20号染色体长臂端粒缺失"],"definition":"一种罕见的染色体异常综合征，由20号染色体长臂部分缺失引起，具有高度多变的表型，典型特征为全身发育迟缓，伴严重的言语和语言缺陷、智力障碍、肌张力减退、癫痫、行为异常（如自闭症谱系障碍行为）和手足骨骼畸形。颅面畸形，包括小头畸形、高额头、眼间距宽、宽鼻梁、球形鼻尖、畸形耳朵、人中长、上唇薄和小下颌后缩畸形，偶尔也会出现。"},"tr":{"name":"Distal monozomi 20q","synonyms":["Monozomi 20qter","Distal delesyon 20q","Telomerik delesyon 20q"]}},"xrefs":[],"associations":[{"type":"Referred to","orpha":261311,"name":"20q13.33 microdeletion syndrome"}],"incoming_associations":[],"preferential_parent":null,"parents":[],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}