{"orpha":261183,"name":"15q11.2 microdeletion syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["15q11.2 BP1-BP2 microdeletion syndrome","Del(15)(q11.2)","Monosomy 15q11.2"],"definition":"15q11.2 microdeletion syndrome is a rare partial autosomal monosomy with a variable phenotypic expression and reduced penetrance associated with an increased susceptibility to neuropsychiatric or neurodevelopmental disorders including delayed psychomotor development, speech delay, autism spectrum disorder, attention deficit-hyperactivity disorder, obsessive-compulsive disorder, epilepsy or seizures. It may also include mild non-specific dysmorphic features (such as dysplastic ears, broad forehead, hypertelorism), cleft palate, neurological and neuroimaging abnormalities (such as ataxia and muscular hypotonia).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-261183/","orphanet_url":"https://www.orpha.net/en/disease/detail/261183","names":{"fr":{"name":"Syndrome de microdélétion 15q11.2","synonyms":["Del(15)(q11.2)","Monosomie 15q11.2","Syndrome de microdélétion 15q11.2 BP1-BP2"],"definition":"Monosomie partielle rare des autosomes caractérisée par une expression phénotypique variable et une pénétrance réduite associée à une susceptibilité accrue aux troubles neuropsychiatriques ou neurodéveloppementaux, y compris un retard du développement psychomoteur, un retard de parole, un trouble du spectre de l'autisme, un trouble déficitaire de l'attention avec hyperactivité, un trouble obsessionnel compulsif, une épilepsie ou des crises convulsives. Une dysmorphie légère et non spécifique (à type d'oreilles dysplasiques, de front large, et d'hypertélorisme), une fente palatine, des troubles neurologiques (ataxie et hypotonie musculaire) et des anomalies mises en évidence par neuro-imagerie."},"de":{"name":"Mikrodeletionssyndrom 15q11.2","synonyms":["Monosomie 15q11.2","15q11.2 (BP1-BP2)-Mikrodeletionssyndrom","Del(15)(q11.2)"]},"es":{"name":"Síndrome de microdeleción 15q11.2","synonyms":["Del(15)(q11.2)","Monosomía 15q11.2","Síndrome de microdeleción 15q11.2 BP1-BP2"],"definition":"Síndrome de microdeleción 15q11.2 es una monosomía autosómica parcial poco frecuente, con expresión fenotípica variable y penetrancia reducida, asociada a un aumento en la susceptibilidad a trastornos neuropsiquiátricos o del desarrollo neurológico, que incluyen retraso en el desarrollo psicomotor, retraso en el habla, trastornos del espectro autista, trastorno por déficit de atención e hiperactividad, trastorno obsesivo-compulsivo, epilepsia o convulsiones. También puede incluir leves características dismórficas inespecíficas (tales como orejas displásicas, frente ancha, hipertelorismo), paladar hendido, anomalías neurológicas (tales como ataxia e hipotonía muscular) y de neuroimagen."},"it":{"name":"Sindrome da microdelezione 15q11.2","synonyms":["Del(15)(q11.2)","Monosomia 15q11.2"],"definition":"La sindrome da microdelezione 15q11.2 è una monosomia autosomica parziale rara, caratterizzata da ridotta penetranza ed un quadro clinico variabile, che comprende la suscettibilità ai disturbi neuropsichiatrici o dello sviluppo neurologico, compreso il ritardo dello sviluppo psicomotorio e del linguaggio, il disturbo dello spettro autistico, il deficit di attenzione/iperattività, il disturbo ossessivo-compulsivo, l'epilessia o le convulsioni. Inoltre, i pazienti possono presentare dismorfismi sfumati ed aspecifici (orecchie displastiche, fronte ampia, ipertelorismo), palatoschisi, anomalie neurologiche ed altre anomalie evidenti alle neuroimmagini, atassia ed ipotonia muscolare."},"nl":{"name":"15q11.2-microdeletiesyndroom","synonyms":["15q11.2 BP1-BP2-microdeletiesyndroom","Del(15)(q11.2)","Monosomie 15q11.2"],"definition":"15q11.2 microdeletiesyndroom is een zeldzame partiële autosomale monosomie met een variabele fenotypische expressie en verminderde penetrantie, geassocieerd met een verhoogde susceptibiliteit voor neuropsychiatrische stoornissen of stoornissen van de neurologische ontwikkeling, waaronder psychomotorische ontwikkelingsachterstand, spraakachterstand, autismespectrumstoornis, aandachtsstoornis met hyperactiviteit, obsessief-compulsieve stoornis, epilepsie of insulten. Ook andere kenmerken kunnen aanwezig zijn, waaronder milde, niet-specifieke dysmorfe kenmerken (zoal dysplastische oren, breed voorhoofd, hypertelorisme), gespleten verhemelte, neurologische anomalieën en afwijkingen bij beeldvorming van de hersenen (zoals ataxie en musculaire hypotonie)."},"pt":{"name":"Síndrome de microdeleção 15q11.2"},"pl":{"name":"Zespół mikrodelecji 15q11.2","synonyms":["Del(15)(q11.2)","Monosomia 15q11.2"],"definition":"*Zespół mikrodelecji 15q11.2 jest rzadką, częściową monosomią autosomu o zmiennej ekspresji fenotypowej i zmniejszonej penetracji, która jest związana ze zwiększoną podatnością na wystąpienie zaburzeń neuropsychiatrycznych lub neurorozwojowych, takich jak opóźniony rozwój psychoruchowy, opóźnienie mowy, zaburzenia ze spektrum autyzmu, nadpobudliwość ruchowa z deficytem uwagi, zaburzenia obsesyjno-kompulsyjne, padaczka lub drgawki. Mogą także towarzyszyć łagodne niespecyficzne cechy dysmorficzne (dysplastyczne uszy, szerokie czoło, hiperteloryzm), rozszczep podniebienia, zaburzenia neurologiczne (ataksja i hipotonia mięśniowa) i nieprawidłowości w badaniach neuroobrazowych."},"cs":{"name":"Syndrom mikrodelece 15q11.2","synonyms":["Del(15)(q11.2)","Monozomie 15q11.2"]},"uk":{"name":"Синдром мікроделеції 15q11.2","synonyms":["15q11.2 Синдром мікроделеції BP1-BP2","Del(15)(q11.2)","Моносомія 15q11.2"],"definition":"15q11.2 microdeletion syndrome is a rare partial autosomal monosomy with a variable phenotypic expression and reduced penetrance associated with an increased susceptibility to neuropsychiatric or neurodevelopmental disorders including delayed psychomotor development, speech delay, autism spectrum disorder, attention deficit-hyperactivity disorder, obsessive-compulsive disorder, epilepsy or seizures. It may also include mild non-specific dysmorphic features (such as dysplastic ears, broad forehead, hypertelorism), cleft palate, neurological and neuroimaging abnormalities (such as ataxia and muscular hypotonia)."},"zh":{"name":"染色体15q11.2微缺失综合征","synonyms":["15q11.2BP1-BP2微缺失综合征"],"definition":"15q11.2微缺失综合征是一种罕见的部分常染色体单体，具有可变的表型表达和外显性降低，与神经精神或神经发育障碍的易感性增加相关，包括精神运动发育延迟、言语延迟、自闭症谱系障碍、注意缺陷多动障碍、强迫症、惊厥或癫痫。它还可能包括轻微的非特异性畸形特征(如耳朵发育不良、额头宽大、眼距过宽)、腭裂、神经和神经影像异常(如共济失调和肌张力低下)。"},"tr":{"name":"15q11.2 mikrodelesyon sendromu","synonyms":["Del (15) (q11.2)","Monozomi 15q11.2","15q11.2 BP1-BP2 mikrodelesyon sendromu"]}},"xrefs":[{"source":"OMIM","code":"615656","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.F","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"667094294"},{"source":"MONDO","code":"0014294","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749854","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10525","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262119,"name":"Partial deletion of the long arm of chromosome 15 syndrome","classifications":[147,156]}],"children":[],"genes":[{"symbol":"NIPA1","name":"NIPA magnesium transporter 1","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"25689425[PMID]","hgnc":"17043","ensembl":"ENSG00000170113","omim":"608145","loci":["15q11.2"]},{"symbol":"NIPA2","name":"NIPA magnesium transporter 2","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"25689425[PMID]","hgnc":"17044","ensembl":"ENSG00000140157","omim":"608146","loci":["15q11.2"]},{"symbol":"TUBG1","name":"tubulin gamma 1","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"25689425[PMID]","hgnc":"12417","ensembl":"ENSG00000131462","omim":"191135","loci":["17q21.31"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":200.0,"area":"Worldwide","status":"Validated","source":"25689425[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":"2021-03-30","source":"28387067[PMID]_32384786[PMID]_25689425[PMID]","terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000174","label":"Abnormal palate morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000377","label":"Abnormal pinna morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0410263","label":"Brain imaging abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010522","label":"Dyslexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002354","label":"Memory impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006891","label":"Thick cerebral cortex","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000717","label":"Autism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000337","label":"Broad forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002370","label":"Poor coordination","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002172","label":"Postural instability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100753","label":"Schizophrenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100716","label":"Self-injurious behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000736","label":"Short attention span","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001680","label":"Coarctation of aorta","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002198","label":"Dilated fourth ventricle","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001636","label":"Tetralogy of Fallot","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005160","label":"Total anomalous pulmonary venous return","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Very rare (<4-1%)","criteria":null}]}}