{"orpha":397695,"name":"3q27.3 microdeletion syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Del(3)(q27.3)"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-397695/","orphanet_url":"https://www.orpha.net/en/disease/detail/397695","names":{"fr":{"name":"Syndrome de microdélétion 3q27.3","synonyms":["Del(3)(q27.3)"]},"de":{"name":"Mikrodeletionssyndrom 3q27.3","synonyms":["Del(3)(q27.3)"]},"es":{"name":"Síndrome de microdeleción 3q27.3","synonyms":["Del(3)(q27.3)"]},"it":{"name":"Sindrome da microdelezione 3q27.3","synonyms":["Del(3)(q27.3)"]},"nl":{"name":"3q27.3-microdeletiesyndroom","synonyms":["Del(3)(q27.3)"]},"pt":{"name":"Síndrome de microdeleção 3q27.3"},"pl":{"name":"Zespół mikrodelecji 3q27.3","synonyms":["Del(3)(q27.3)"]},"cs":{"name":"Mikrodeleční syndrom 3q27.3","synonyms":["Del(3)(q27.3)"]},"uk":{"name":"Синдром мікроделеції 3q27.3","synonyms":["Del(3)(q27.3)"],"definition":"3q27.3 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 3, characterized by mild to severe intellectual disability, neuropsychiatric disorders of the psychotic and dysthymic spectrum, mild distinctive facial dysmorphism (incl. slender face, deep-set eyes, high nasal bridge with a hooked nose, small, low- set ears, short philtrum, small mouth with thin upper lip, prognathism) and a marfanoid habitus."},"zh":{"name":"3q27.3微缺失综合征","synonyms":["3q27.3缺失"],"definition":"3q27.3微缺失综合征是一种罕见的染色体异常综合征，由3号染色体长臂部分缺失引起，其特征包括轻至重度智力障碍、精神病性和心境恶劣的神经精神障碍、轻度特征性面部畸形(细长脸、深邃眼、高鼻梁和钩鼻、低位小耳朵、短人中、小嘴伴薄上唇、凸颚)和马方氏综合症样体征。"},"tr":{"name":"3q27.3 mikrodelesyon sendromu","synonyms":["Del(3)(q27.3)"]}},"xrefs":[{"source":"MONDO","code":"0018341","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749427","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"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":262019,"name":"Partial deletion of the long arm of chromosome 3 syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}