{"orpha":261190,"name":"Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["15q14 microdeletion syndrome","Del(15)(q14)","Monosomy 15q14"],"definition":"15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-261190/","orphanet_url":"https://www.orpha.net/en/disease/detail/261190","names":{"fr":{"name":"Syndrome de déficience intellectuelle-cardiopathie congénitale-fente palatine dû à une microdélétion 15q14","synonyms":["Del(15)(q14)","Monosomie 15q14","Syndrome de microdélétion 15q14"],"definition":"Le syndrome de microdélétion 15q14, récemment décrit, se caractérise par un retard du développement, une petite taille et une dysmorphie faciale."},"de":{"name":"Mikrodeletionssyndrom 15q14","synonyms":["Del(15)(q14)","Monosomie 15q14"]},"es":{"name":"Síndrome de paladar hendido-defecto cardíaco congénito-discapacidad intelectual por una microdeleción 15q14","synonyms":["Del(15)(q14)","Monosomía 15q14","Síndrome de microdeleción 15q14"],"definition":"El síndrome de microdeleción 15q14 es un síndrome recientemente descrito caracterizado por retraso psicomotor, talla baja y dismorfia facial."},"it":{"name":"Sindrome da microdelezione 15q14","synonyms":["Del(15)(q14)","Monosomia 15q14"],"definition":"La sindrome da microdelezione 15q14, descritta di recente, è una malattia caratterizzata da ritardo dello sviluppo, bassa statura e dismorfismi facciali."},"nl":{"name":"15q14-microdeletiesyndroom","synonyms":["Del(15)(q14)","Monosomie 15q14"],"definition":"Een syndroom, gekenmerkt door ontwikkelingsachterstand, kleine gestalte, en faciale dysmorfie."},"pt":{"name":"Síndrome de microdeleção 15q14","synonyms":["Monossomia 15q14"],"definition":"A síndrome da microdeleção 15q14 é uma síndrome recentemente descrita, caracterizada por atraso no desenvolvimento, baixa estatura e dismorfia facial."},"pl":{"name":"Zespół mikrodelecji 15q14","synonyms":["Del(15)(q14)","Monosomia 15q14"]},"cs":{"name":"Syndrom mikrodelece 15q14","synonyms":["Del(15)(q14)","Monozomie 15q14"]},"uk":{"name":"Синдром розщеплення піднебіння-вродженої вади серця-інтелектуальної недостатностї внаслідок мікроделеції 15q14","synonyms":["Синдром мікроделеції 15q14","Del(15)(q14)","Моносомія 15q14"],"definition":"15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism."},"zh":{"name":"染色体15q14微缺失综合征","synonyms":["15q14单体"],"definition":"15q14微缺失综合征是新近报道的一种以发育迟缓、身材矮小和面部畸形为特征的综合征。"},"tr":{"name":"15q14 mikrodelesyon sendromu","synonyms":["Del (15) (q14)","Monozomi 15q14"]}},"xrefs":[{"source":"OMIM","code":"616898","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":"1577702553"},{"source":"MONDO","code":"0014822","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4305230","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":652519,"name":"Cleft palate-congenital heart defect-intellectual disability syndrome","classifications":[147,156,181]},{"orpha":262119,"name":"Partial deletion of the long arm of chromosome 15 syndrome","classifications":[147,156]}],"children":[],"genes":[{"symbol":"MEIS2","name":"Meis homeobox 2","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"21504564[PMID]_20425846[PMID]_18561338[PMID]_18458017[PMID]_17163532[PMID]_24678003[PMID]","hgnc":"7001","ensembl":"ENSG00000134138","omim":"601740","loci":["15q14"]}],"genes_via_subtypes":[],"inheritance":["Not applicable","Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":9.0,"area":"Worldwide","status":"Validated","source":"24678003[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24678003[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"21504564[PMID]","terms":[{"hpo":"HP:0000175","label":"Cleft palate","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:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004422","label":"Biparietal narrowing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000341","label":"Narrow forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000307","label":"Pointed chin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000319","label":"Smooth philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001061","label":"Acne","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:0000444","label":"Convex nasal ridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002721","label":"Immunodeficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001601","label":"Laryngomalacia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000276","label":"Long face","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000426","label":"Prominent nasal bridge","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:0001629","label":"Ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null}]}}