{"orpha":261197,"name":"Proximal 16p11.2 microdeletion syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Proximal del(16)(p11.2)","Proximal monosomy 16p11.2"],"definition":"The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-261197/","orphanet_url":"https://www.orpha.net/en/disease/detail/261197","names":{"fr":{"name":"Syndrome de microdélétion 16p11.2 proximale","synonyms":["Del(16)(p11.2) proximale","Monosomie 16p11.2 proximale"],"definition":"Anomalie chromosomique caractérisée par un retard de développement et d'acquisition du langage, une déficience intellectuelle légère, des dysfonctionnements dans les interactions sociales (troubles du spectre de l'autisme), une dysmorphie légère et inconstante, ainsi qu'une prédisposition à l'obésité."},"de":{"name":"Mikrodeletionssyndrom 16p11.2, proximales","synonyms":["Del(16)(p11.2)","Monosomie 16p11.2"],"definition":"Das Proximale 16p11.2 Mikrodeletions-Syndrom ist eine Chromosomenanomalie und gekennzeichnet durch Entwicklungsverzögerung, verzögerte Sprachentwicklung, leichte geistige Behinderung, soziale Beeinträchtigungen (Autismus-Spektrum-Störungen), unterschiedliche leichte Dysmorphien und Prädisposition für Adipositas ."},"es":{"name":"Síndrome de microdeleción proximal 16p11.2","synonyms":["Del(16)(p11.2) proximal","Monosomía proximal 16p11.2"],"definition":"El síndrome de microdeleción 16p11.2 proximal es una anomalía cromosómica caracterizada por un retraso en el desarrollo y el lenguaje, discapacidad intelectual leve, discapacidad social (trastornos del espectro autista), rasgos dismórficos leves y predisposición a la obesidad."},"it":{"name":"Sindrome da microdelezione 16p11.2 prossimale","synonyms":["Del(16)(p11.2) prossimale","Monosomia 16p11.2 prossimale"],"definition":"La sindrome da microdelezione 16p11.2 prossimale è un'anomalia cromosomica caratterizzata da ritardo dello sviluppo e del linguaggio, deficit cognitivo lieve, disabilità sociale (disturbi dello spettro autistico), lievi dismorfismi variabili e predisposizione all'obesità."},"nl":{"name":"Proximale 16p11.2-microdeletiesyndroom","synonyms":["Proximale Del(16)(p11.2)","Proximale monosomie 16p11.2"],"definition":"Proximale 16p11.2 microdeletiesyndroom is een chromosoomafwijking die gekenmerkt wordt door ontwikkelings- en taalachterstand, milde intellectuele achterstand, sociale stoornissen (autismespectrumstoornissen), milde variabele dysmorfie en predispositie voor obesitas."},"pt":{"name":"Síndrome de microdeleção proximal 16p11.2"},"pl":{"name":"Zespół mikrodelecji proksymalnej 16p11.2","synonyms":["Monosomia proksymalna 16p11.2","Proksymalna del(16)(p11.2)"]},"cs":{"name":"Syndrom proximální mikrodelece 16p11.2","synonyms":["Proximální del(16)(p11.2)","Proximální monozomie 16p11.2"]},"uk":{"name":"Синдром проксимальної мікроделеції 16p11.2","synonyms":["Proximal del(16)(p11.2)","Проксимальна моносомія 16p11.2"],"definition":"The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity."},"zh":{"name":"近端染色体16p11.2微缺失综合征","synonyms":["16p11.2近端单体"],"definition":"近端16p11.2微缺失综合征是一种染色体异常，以发育和语言发育迟缓、轻度智能障碍、社会障碍(自闭症谱系障碍)、轻度多样性畸形和肥胖易感性为特征。"},"tr":{"name":"Proksimal 16p11.2 mikrodelesyon sendromu","synonyms":["Proksimal del (16) (p11.2)","Proksimal monozomi 16p11.2"]}},"xrefs":[{"source":"OMIM","code":"611913","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.G1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1398449020"},{"source":"MONDO","code":"0012756","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4273657","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10740","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":261956,"name":"Partial deletion of the short arm of chromosome 16 syndrome","classifications":[147,156]}],"children":[],"genes":[{"symbol":"SH2B1","name":"SH2B adaptor protein 1","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":null,"hgnc":"30417","ensembl":"ENSG00000178188","omim":"608937","loci":["16p11.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":20.0,"area":"Europe","status":"Validated","source":"19306953[PMID]_[EXPERT]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":20.0,"area":"United States","status":"Validated","source":"21731881[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-05-03","source":"20301775[PMID]_29636920[PMID]_19914906[PMID]","terms":[{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","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:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011351","label":"Moderate receptive language delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006863","label":"Severe expressive language delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009088","label":"Speech articulation difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001646","label":"Abnormal aortic valve morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000733","label":"Abnormal repetitive mannerisms","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003468","label":"Abnormal vertebral morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100702","label":"Arachnoid cyst","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000717","label":"Autism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000337","label":"Broad forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007099","label":"Chiari type I malformation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001266","label":"Choreoathetosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002280","label":"Enlarged cisterna magna","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007166","label":"Paroxysmal dyskinesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002691","label":"Platybasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012760","label":"Reduced social responsiveness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011098","label":"Speech apraxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000776","label":"Congenital diaphragmatic hernia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001363","label":"Craniosynostosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001651","label":"Dextrocardia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001161","label":"Hand polydactyly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000003","label":"Multicystic kidney dysplasia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002021","label":"Pyloric stenosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000902","label":"Rib fusion","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003396","label":"Syringomyelia","frequency":"Very rare (<4-1%)","criteria":null}]}}