{"orpha":251028,"name":"SATB2-associated syndrome due to a chromosomal rearrangement","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["2q33.1 microdeletion syndrome","Del(2)(q33.1)","Monosomy 2q33.1"],"definition":null,"note":"This disease is described under SATB2-associated syndrome","url":"https://raremap.alftech.space/d/ORPHA-251028/","orphanet_url":"https://www.orpha.net/en/disease/detail/251028","names":{"fr":{"name":"Syndrome associé à SATB2 dû à un réarrangement chromosomique","synonyms":["Del(2)(q33.1)","Monosomie 2q33.1","Syndrome de microdélétion 2q33.1"]},"de":{"name":"SATB2-assoziiertes-Syndrom durch chromosomales Rearrangement","synonyms":["Del(2)(q33.1)","Mikrodeletionssyndrom 2q33.1","Monosomie 2q33.1"]},"es":{"name":"Síndrome asociado a SATB2 por un reordenamiento cromosómico","synonyms":["Síndrome de microdeleción 2q33.1","Del(2)(q33.1)","Monosomía 2q33.1"]},"it":{"name":"Sindrome da microdelezione 2q33.1","synonyms":["Del(2)(q33.1)","Monosomia 2q33.1"]},"nl":{"name":"SATB2-geassocieerd syndroom door een chromosomale herschikking","synonyms":["2q33.1-microdeletiesyndroom","Del(2)(q33.1)","Monosomie 2q33.1"]},"pt":{"name":"Síndrome associado a SATB2 por rearranjo cromossómico","synonyms":["Monossomia 2q33.1","Síndrome de microdeleção 2q33.1"]},"pl":{"name":"Zespół mikrodelecji 2q33.1","synonyms":["Del(2)(q33.1)","Monosomia 2q33.1"]},"cs":{"name":"Syndrom mikrodelece 2q33.1","synonyms":["Del(2)(q33.1)","Monozomie 2q33.1"]},"uk":{"name":"SATB2-асоційований синдром внаслідок хромосомної перебудови","synonyms":["Синдром мікроделеції 2q33.1","Del(2)(q33.1)","Моносомія 2q33.1"]},"zh":{"name":"染色体重排所致SATB2蛋白相关综合征","synonyms":["2q33.1微缺失综合征"],"definition":"2q33.1微缺失综合征是一种罕见的染色体异常综合征，由2号染色体长臂部分缺失引起，具有高度变异的表型，典型特征为严重智力障碍、中到重度发育迟缓(尤其是言语)、进食困难、发育不良、肌张力低下、稀疏毛发、各种牙齿异常和腭裂/高腭弓。典型的畸形特征包括高、突出的额头、眼裂下斜和突出的鼻梁，鼻梁呈喙状。各种行为问题(如多动症、混乱/重复行为、避免触摸)也与此相关。"},"tr":{"name":"Kromozomal yeniden düzenlemeye bağlı SATB2-ilişkili sendrom","synonyms":["Del (2) (q33.1)","Monozomi 2q33.1","2q33.1 mikrodelesyon sendromu"]}},"xrefs":[{"source":"OMIM","code":"612313","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0016653","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4706258","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262010,"name":"Partial deletion of the long arm of chromosome 2 syndrome","classifications":[147,156]},{"orpha":576278,"name":"SATB2-associated syndrome","classifications":[147,156,181,197,200,209]}],"children":[],"genes":[{"symbol":"SATB2","name":"SATB homeobox 2","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"19668335[PMID]_21343628[PMID]","hgnc":"21637","ensembl":"ENSG00000119042","omim":"608148","loci":["2q33.1"]}],"genes_via_subtypes":[],"inheritance":["Not applicable","Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":20.0,"area":"Worldwide","status":"Validated","source":"21343628[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-11-19","source":"19668335[PMID]_21343628[PMID]","terms":[{"hpo":"HP:0001344","label":"Absent speech","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001776","label":"Bilateral talipes equinovarus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008734","label":"Decreased testicular size","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002307","label":"Drooling","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000540","label":"Hypermetropia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011470","label":"Nasogastric tube feeding in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011220","label":"Prominent forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000426","label":"Prominent nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011344","label":"Severe global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008070","label":"Sparse hair","frequency":"Frequent 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