{"orpha":261250,"name":"16q24.3 microdeletion syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Del(16)(q24.3)","Monosomy 16q24.3"],"definition":"16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-261250/","orphanet_url":"https://www.orpha.net/en/disease/detail/261250","names":{"fr":{"name":"Syndrome de microdélétion 16q24.3","synonyms":["Del(16)(q24.3)","Monosomie 16q24.3"],"definition":"Le syndrome de microdélétion 16q24.3, récemment décrit, se caractérise par un retard du développement variable, une dysmorphie faciale, une épilepsie et des troubles du spectre autistique."},"de":{"name":"Mikrodeletionssyndrom 16q24.3","synonyms":["Del(16)(q24.3)","Monosomie 16q24.3"],"definition":"Das kürzlich beschriebene 16q24.3-Mikrodeletion-Syndrom ist mit einer Reihe verschiedener klinischer Symptome verbunden, darunter unterschiedlich schwer verzögerte Entwicklung, faziale Dysmorphien, Krampfanfälle und Autismus-Spektrum-Störungen."},"es":{"name":"Síndrome de microdeleción 16q24.3","synonyms":["Del(16)(q24.3)","Monosomía 16q24.3"],"definition":"El síndrome de microdeleción 16q24.3 es un síndrome recientemente descrito asociado a retraso variable en el desarrollo, dismorfismo facial, convulsiones y trastornos del espectro autista."},"it":{"name":"Sindrome da microdelezione 16q24.3","synonyms":["Del(16)(q24.3)","Monosomia 16q24.3"],"definition":"La sindrome da microdelezione 16q24.3 è una condizione descritta di recente, caratterizzata da variabile ritardo dello sviluppo, dismorfismi facciali, convulsioni e disturbi dello spettro dell'autismo."},"nl":{"name":"16q24.3-microdeletiesyndroom","synonyms":["Del(16)(q24.3)","Monosomie 16q24.3"],"definition":"Een syndroom, gekenmerkt door variabele ontwikkelingsachterstand, faciale dysmorfie, insulten, en autismespectrumstoornis."},"pt":{"name":"Síndrome de microdeleção 16q24.3","definition":"A síndrome de microdeleção 16q24.3 é uma síndrome recentemente descrita associada a atraso do desenvolvimento variável, dismorfia facial, convulsões e perturbação do espectro clínico do autismo."},"pl":{"name":"Zespół mikrodelecji 16q24.3","synonyms":["Del(16)(q24.3)","Monosomia 16q24.3"]},"cs":{"name":"Syndrom mikrodelece 16q24.3","synonyms":["Del(16)(q24.3)","Monozomie 16q24.3"]},"uk":{"name":"Синдром мікроделеції 16q24.3","synonyms":["Del(16)(q24.3)","Моносомія 16q24.3"],"definition":"16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder."},"zh":{"name":"16q24.3微缺失综合征","synonyms":["16q24.3单体"],"definition":"16q24.3微缺失综合征是近年来发现的一种与程度不一的发育迟缓、面部畸形、癫痫发作和自闭症谱系障碍相关的综合征。"},"tr":{"name":"16q24.3 mikrodelesyon sendromu","synonyms":["Del (16) (q24.3)","Monozomi 16q24.3"]}},"xrefs":[{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD44.G0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"875703691"},{"source":"MONDO","code":"0016838","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4304594","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10935","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262128,"name":"Partial deletion of the long arm of chromosome 16 syndrome","classifications":[147,156]}],"children":[],"genes":[{"symbol":"ANKRD11","name":"ankyrin repeat domain 11","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Not yet assessed","source":null,"hgnc":"21316","ensembl":"ENSG00000167522","omim":"611192","loci":["16q24.3"]}],"genes_via_subtypes":[],"inheritance":["Not applicable","Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":27.0,"area":"Worldwide","status":"Validated","source":"28422132[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_28422132[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"19920853[PMID]","terms":[{"hpo":"HP:0000717","label":"Autism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030048","label":"Colpocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000609","label":"Optic nerve hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007165","label":"Periventricular heterotopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000307","label":"Pointed chin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000319","label":"Smooth philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000154","label":"Wide mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010720","label":"Abnormal hair pattern","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000483","label":"Astigmatism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004422","label":"Biparietal narrowing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000389","label":"Chronic otitis media","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001644","label":"Dilated cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002553","label":"Highly arched eyebrow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001385","label":"Hip dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005518","label":"Increased mean corpuscular volume","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000276","label":"Long face","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001653","label":"Mitral regurgitation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000384","label":"Preauricular skin tag","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009623","label":"Proximal placement of thumb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006315","label":"Single median maxillary incisor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012471","label":"Thick vermilion border","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000325","label":"Triangular face","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Occasional (29-5%)","criteria":null}]}}