{"orpha":96263,"name":"48,XXXY syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"The 48,XXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of two extra X chromosomes in males.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-96263/","orphanet_url":"https://www.orpha.net/en/disease/detail/96263","names":{"fr":{"name":"Syndrome 48,XXXY","definition":"Le syndrome 48,XXXY représente une anomalie chromosomique à type d'aneuploïdie caractérisée par la présence de deux chromosomes X supplémentaires chez un garçon."},"de":{"name":"48,XXXY-Syndrom","synonyms":["48, XXXY"],"definition":"Das 48,XXXY-Syndrom ist eine aneuploide Chromosomenanomalie mit zwei überzähligen X-Chromosomen bei männlichen Patienten."},"es":{"name":"Síndrome 48,XXXY","definition":"El síndrome 48,XXXY es una anomalía cromosómica de tipo aneuploide caracterizada por la presencia de dos cromosomas X extra en varones."},"it":{"name":"Sindrome 48,XXXY"},"nl":{"name":"48,XXXY-syndroom","definition":"Het 48,XXXY-syndroom is een chromosomale anomalie van het aneuploïdie-type, gekenmerkt door de aanwezigheid van twee extra X-chromosomen bij mannen."},"pt":{"name":"Síndrome 48,XXXY","definition":"A síndrome 48,XXXY representa uma anomalia cromossómica do tipo aneuplóide caracterizada pela presença de dois cromossomas X extra em indivíduos do sexo masculino."},"pl":{"name":"Zespół 48,XXXY"},"cs":{"name":"48,XXXY syndrom"},"uk":{"name":"Синдром 48,XXXY","definition":"The 48,XXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of two extra X chromosomes in males."},"zh":{"name":"48,XXXY综合征","definition":"48，XXXY综合征是一种非整倍体类型的染色体异常，其特征是男性有两条额外的X染色体。"},"tr":{"name":"48, XXXY sendromu"}},"xrefs":[{"source":"ICD-10","code":"Q98.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0019928","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265498","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5676","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10048228","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":98313,"name":"Male infertility due to gonadal dysgenesis","classifications":[156,201]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":325546,"name":"Sex chromosome difference of sex development","classifications":[147,156,185,193]},{"orpha":165707,"name":"Syndromic urogenital tract malformation","classifications":[147,156,185]},{"orpha":263720,"name":"X chromosome number anomaly with male phenotype syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable","Unknown"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Europe","status":"Validated","source":"[EXPERT]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"17062147[PMID]_21342258[PMID]","terms":[{"hpo":"HP:0000027","label":"Azoospermia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008734","label":"Decreased testicular size","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000135","label":"Hypogonadism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000789","label":"Infertility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002463","label":"Language impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000682","label":"Abnormality of dental 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