{"orpha":228402,"name":"2q23.1 microdeletion syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Del(2)(q23.1)","Monosomy 2q23.1","Pseudo-Angelman syndrome"],"definition":"The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-228402/","orphanet_url":"https://www.orpha.net/en/disease/detail/228402","names":{"fr":{"name":"Syndrome de microdélétion 2q23.1","synonyms":["Del(2)(q23.1)","Monosomie 2q23.1","Syndrome pseudo-Angelman"],"definition":"Le syndrome de microdélétion 2q23.1, de description récente, comporte un déficit intellectuel sévère avec retard important du langage, des troubles du comportement marqués par une hyperactivité et des éclats de rire inappropriés, une petite taille et une épilepsie."},"de":{"name":"Mikrodeletionssyndrom 2q23.1","synonyms":["Del(2)(q23.1)","Monosomie 2q23.1","Pseudo-Angelman-Syndrom"],"definition":"Das neu beschriebene 2q23.1-Mikrodeletion-Syndrom ist gekennzeichnet durch schweres intellektuelles Defizit mit ausgeprägter Sprachentwicklungsverzögerung, durch Verhaltensanomalien einschließlich Hyperaktivität und unangemessenes Lachen, durch Kleinwuchs und Krampfanfälle."},"es":{"name":"Síndrome de microdeleción 2q23.1","synonyms":["Del(2)(q23.1)","Monosomía 2q23.1","Síndrome pseudo-Angelman"],"definition":"El síndrome de microdeleción 2q23.1, recientemente descrito, conlleva un déficit intelectual grave con un marcado retraso del habla, trastornos de comportamiento incluyendo hiperactividad y risa inapropiada, estatura baja y convulsiones."},"it":{"name":"Sindrome da microdelezione 2q23.1","synonyms":["Del(2)(q23.1)","Monosomia 2q23.1","Sindrome pseudo-Angelman"],"definition":"La sindrome da microdelezione 2q23.1, descritta di recente, è caratterizzata da grave ritardo mentale associato a un significativo ritardo del linguaggio, disturbi comportamentali con iperattività e crisi di riso ingiustificate, bassa statura ed epilessia."},"nl":{"name":"2q23.1-microdeletiesyndroom","synonyms":["Del(2)(q23.1)","Monosomie 2q23.1","Pseudo-Angelman-syndroom"],"definition":"Een syndroom, gekenmerkt door ernstige intellectuele achterstand met uitgesproken spraakachterstand, gedragsafwijkingen waaronder hyperactiviteit en ongepast lachen, kleine gestalte, en insulten."},"pt":{"name":"Síndrome de microdeleção 2q23.1","definition":"A síndrome da microdelecção 2q23.1 recentemente descrita inclui défice cognitivo grave, com atraso da fala acentuado, alterações comportamentais incluindo hiperactividade e riso inapropriado, baixa estatura e convulsões."},"pl":{"name":"Zespół mikrodelecji 2q23.1","synonyms":["Del(2)(q23.1)","Monosomia 2q23.1","Rzekomy zespół Angelmana"]},"cs":{"name":"Mikrodeleční syndrom 2q23.1","synonyms":["Del(2)(q23.1)","Monozomie 2q23.1","Pseudo-Angelmanův syndrom"]},"uk":{"name":"Синдром мікроделеції 2q23.1","synonyms":["Del(2)(q23.1)","Моносомія 2q23.1","Синдром псевдо-Ангельмана"],"definition":"The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures."},"zh":{"name":"2q23.1微缺失综合征","synonyms":["伪Angelman综合征"],"definition":"最近报道2q23.1微缺失综合征包括严重的智力缺陷伴语言发育明显延迟，包括多动和不恰当的笑声的行为异常，身材矮小和癫痫发作。"},"tr":{"name":"2q23.1 mikrodelesyon sendromu","synonyms":["Del (2) (q23.1)","Monozomi 2q23.1","Psödo-Angelman sendromu"]}},"xrefs":[{"source":"OMIM","code":"156200","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD44.20","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1034590654"},{"source":"MONDO","code":"0016459","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4304532","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10998","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":166469,"name":"Chromosomal anomaly with epilepsy as a major feature","classifications":[156,181]},{"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":262010,"name":"Partial deletion of the long arm of chromosome 2 syndrome","classifications":[147,156]}],"children":[],"genes":[{"symbol":"MBD5","name":"methyl-CpG binding domain protein 5","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"19809484[PMID]","hgnc":"20444","ensembl":"ENSG00000204406","omim":"611472","loci":["2q23.1"]}],"genes_via_subtypes":[],"inheritance":["Not applicable","Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":18.0,"area":"Worldwide","status":"Validated","source":"22407754[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000733","label":"Abnormal repetitive mannerisms","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:0010864","label":"Intellectual disability, severe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000337","label":"Broad forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000232","label":"Everted lower lip vermilion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002230","label":"Generalized hirsutism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002553","label":"Highly arched eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000752","label":"Hyperactivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000194","label":"Open mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000749","label":"Paroxysmal bursts of laughter","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002591","label":"Polyphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001852","label":"Sandal gap","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100716","label":"Self-injurious behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004279","label":"Short palm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000664","label":"Synophrys","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010804","label":"Tented upper lip vermilion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001385","label":"Hip dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008736","label":"Hypoplasia of penis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001572","label":"Macrodontia","frequency":"Occasional (29-5%)","criteria":null}]}}