{"orpha":353281,"name":"Rubinstein-Taybi syndrome due to 16p13.3 microdeletion","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This disease is described under Rubinstein-Taybi syndrome","url":"https://raremap.alftech.space/d/ORPHA-353281/","orphanet_url":"https://www.orpha.net/en/disease/detail/353281","names":{"fr":{"name":"Syndrome de Rubinstein-Taybi dû à une microdélétion 16p13.3"},"de":{"name":"Rubinstein-Taybi-Syndrom durch Mikrodeletion 16p13.3"},"es":{"name":"Síndrome de Rubinstein-Taybi por microdeleción 16p13.3"},"it":{"name":"Sindrome di Rubinstein-Taybi da microdelezione 16p13.3"},"nl":{"name":"Syndroom van Rubinstein-Taybi door 16p13.3-microdeletie"},"pt":{"name":"Síndrome Rubinstein-Taybi por microdeleção 16p13.3"},"pl":{"name":"Zespół Rubinsteina i Taybiego z powodu mikrodelecji 16p13.3"},"cs":{"name":"Rubinsteinův-Taybiův syndrom způsobený mikrodelecí 16p13.3","synonyms":["Rubinstein-Taybiův syndrom způsobený mikrodelecí 16p13.3"]},"uk":{"name":"Синдром Рубінштейна-Тайбі, зумовлений мікроделецією 16p13.3"},"zh":{"name":"16p13.3微缺失所致Rubinstein-Taybi综合征"},"tr":{"name":"16p13.3 mikrodelesyonuna bağlı Rubinstein-Taybi sendromu"}},"xrefs":[{"source":"OMIM","code":"610543","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD44.G1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1963659381"},{"source":"MONDO","code":"0012519","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1864648","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10754","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]},{"orpha":783,"name":"Rubinstein-Taybi syndrome","classifications":[147,156,181,188,189,193,199,202,233]}],"children":[],"genes":[{"symbol":"CREBBP","name":"CREB binding lysine acetyltransferase","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"20301699[PMID]","hgnc":"2348","ensembl":"ENSG00000005339","omim":"600140","loci":["16p13.3"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Antenatal","Neonatal"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-06-09","source":"25599811[PMID]_20301699[PMID]","terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100852","label":"Abnormal fear/anxiety-related behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009834","label":"Abnormal proximal phalanx morphology of the hand","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000733","label":"Abnormal repetitive mannerisms","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000079","label":"Abnormality of the urinary system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000756","label":"Agoraphobia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009836","label":"Broad distal phalanx of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010055","label":"Broad hallux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011304","label":"Broad thumb","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000722","label":"Compulsive behaviors","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000444","label":"Convex nasal ridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000712","label":"Emotional lability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100710","label":"Impulsivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009765","label":"Low hanging columella","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000189","label":"Narrow palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002870","label":"Obstructive sleep apnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025269","label":"Panic attack","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012760","label":"Reduced social responsiveness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005484","label":"Secondary microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007086","label":"Social and occupational deterioration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011087","label":"Talon cusp","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000539","label":"Abnormality of refraction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003319","label":"Abnormality of the cervical spine","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010674","label":"Abnormality of the curvature of the vertebral column","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000932","label":"Abnormality of the posterior cranial fossa","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001344","label":"Absent speech","frequency":"Occasional (29-5%)","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:0005743","label":"Avascular necrosis of the capital femoral epiphysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031546","label":"Cardiac conduction abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000670","label":"Carious teeth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002308","label":"Chiari malformation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000678","label":"Dental crowding","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000689","label":"Dental malocclusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000752","label":"Hyperactivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000668","label":"Hypodontia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010562","label":"Keloids","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002664","label":"Neoplasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000787","label":"Nephrolithiasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000388","label":"Otitis media","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002999","label":"Patellar dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002090","label":"Pneumonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000010","label":"Recurrent urinary tract infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000488","label":"Retinopathy","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:0000407","label":"Sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011069","label":"Supernumerary tooth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000076","label":"Vesicoureteral reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001650","label":"Aortic valve stenosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002099","label":"Asthma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001647","label":"Bicuspid aortic valve","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005374","label":"Cellular immunodeficiency","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002341","label":"Cervical cord compression","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001680","label":"Coarctation of aorta","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000589","label":"Coloboma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005363","label":"Humoral immunodeficiency","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002566","label":"Intestinal malrotation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002858","label":"Meningioma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000695","label":"Natal tooth","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030434","label":"Pilomatrixoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001642","label":"Pulmonic stenosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0010302","label":"Spinal cord tumor","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003396","label":"Syringomyelia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0010775","label":"Vascular ring","frequency":"Very rare (<4-1%)","criteria":null}]}}