{"orpha":254351,"name":"Distal 7q11.23 microdeletion syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Distal del(7)(q11.23)","Distal monosomy 7q11.23"],"definition":"Distal 7q11.23 microdeletion syndrome is a rare chromosomal anomaly characterized by epilepsy, neurodevelopmental disorder variably including developmental delays and intellectual disabilities of variable severity, learning disability and neurobehavioral abnormalities (autism spectrum disorder, hyperactivity, impulsivity, aggression, self-abusive behaviors, depression).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-254351/","orphanet_url":"https://www.orpha.net/en/disease/detail/254351","names":{"fr":{"name":"Syndrome de microdélétion 7q11.23 distale","synonyms":["Del(7)(q11.23) distale","Monosomie 7q11.23 distale"],"definition":"Anomalie chromosomique rare caractérisée par une épilepsie, des troubles neurodéveloppementaux comprenant des retards de développement et des déficiences intellectuelles de gravité variable, des difficultés d'apprentissage et des anomalies neurocomportementales (troubles du spectre autistique, hyperactivité, impulsivité, agressivité, comportements autodestructeurs, dépression)."},"de":{"name":"Mikrodeletionssyndrom 7q11.23, distal","synonyms":["Del(7)(q11.23)","Monosomie 7q11.23, distal"]},"es":{"name":"Síndrome de microdeleción terminal 7q11.23","synonyms":["Del(7)(q11.23) terminal","Distal del(7)(q11.23)","Monosomía terminal 7q11.23"],"definition":"Es una anomalía cromosómica poco frecuente caracterizada por epilepsia, trastorno variable del neurodesarrollo que incluye retrasos en el desarrollo y discapacidad intelectual de gravedad variable, trastornos del aprendizaje y anomalías neuroconductuales (trastorno del espectro autista, hiperactividad, impulsividad, agresividad, comportamientos autoabusivos, depresión)."},"it":{"name":"Sindrome da microdelezione 7q11.23 distale","synonyms":["Del(7)(q11.23) distale","Monosomia 7q11.23 distale","Monosomia distale 7q11.23"],"definition":"La sindrome da microdelezione 7q11.23 distale è un'anomalia cromosomica rara caratterizzata da epilessia e malattia del neurosviluppo, con ritardo dello sviluppo e disabilità intellettiva di grado variabile, difficoltà di apprendimento e anomalie neuro-comportamentali (disturbo dello spettro autistico, iperattività, impulsività, aggressività, autolesionismo e depressione)."},"nl":{"name":"Distale 7q11.23-microdeletiesyndroom","synonyms":["Distale del(7)(q11.23)","Distale monosomie 7q11.23"],"definition":"Distale 7q11.23 microdeletiesyndroom is een zeldzame chromosomale anomalie die gekarakteriseerd wordt door epilepsie, neurologische ontwikkelingsstoornis die afwisselend ontwikkelingsachterstand en intellectuele achterstand van variabele ernst omvat, leerstoornis en neurologische gedragsstoornissen (autismespectrumstoornis, hyperactiviteit, impulsiviteit, agressie, zelfbeschadigend gedrag, depressie)."},"pt":{"name":"Síndrome de microdeleção distal 7q11.23","synonyms":["Monossomia distal 7q11.23"]},"pl":{"name":"Zespół dystalnej mikrodelecji 7q11.23","synonyms":["Dystalna del(7)(q11.23)","Dystalna monosomia 7q11.23"],"definition":"*Zespół dystalnej mikrodelecji 7q11.23 jest rzadką aberracją chromosomową, która charakteryzuje się padaczką, zaburzeniami neurorozwojowymi różnego stopnia, w tym opóźnieniem rozwoju i niepełnosprawnością intelektualna o różnym stopniu nasilenia, trudnościami w uczeniu się i zaburzeniami neurobehawioralnymi (zaburzenia ze spektrum autyzmu, nadmierna aktywność, impulsywność, agresja, samookaleczanie, depresja)."},"cs":{"name":"Syndrom distální mikrodelece 7q11.23","synonyms":["Distální del(7)(q11.23)","Distální monozomie 7q11.23"]},"uk":{"name":"Синдром дистальної мікроделеції 7q11.23","synonyms":["Дистальний del(7)(q11.23)","Дистальна моносомія 7q11.23"],"definition":"Distal 7q11.23 microdeletion syndrome is a rare chromosomal anomaly characterized by epilepsy, neurodevelopmental disorder variably including developmental delays and intellectual disabilities of variable severity, learning disability and neurobehavioral abnormalities (autism spectrum disorder, hyperactivity, impulsivity, aggression, self-abusive behaviors, depression)."},"zh":{"name":"末端染色体7q11.23微缺失综合征","synonyms":["7q11.23远端单体"],"definition":"7q11.23远端微缺失综合征是一种罕见的染色体异常，以癫痫、神经发育障碍的多种表现包括发育迟缓、程度不一的智力障碍以及认知缺陷和神经行为异常(自闭症谱系障碍、多动、冲动、攻击性、自虐行为、抑郁)为特征。"},"tr":{"name":"Distal 7q11.23 mikrodelesyon sendromu","synonyms":["Distal del (7) (q11.23)","Distal monozomi 7q11.23"]}},"xrefs":[{"source":"OMIM","code":"613729","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD44.70","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"7636500"},{"source":"MONDO","code":"0013393","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749584","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262056,"name":"Partial deletion of the long arm of chromosome 7 syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":41.0,"area":"Worldwide","status":"Validated","source":"23637006[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:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000717","label":"Autism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007302","label":"Bipolar affective disorder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002308","label":"Chiari malformation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002132","label":"Porencephaly","frequency":"Occasional (29-5%)","criteria":null}]}}