{"orpha":254525,"name":"Temple syndrome due to paternal 14q32.2 microdeletion","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Paternal del(14)(q32.2)"],"definition":null,"note":"This disease is described under Temple syndrome","url":"https://raremap.alftech.space/d/ORPHA-254525/","orphanet_url":"https://www.orpha.net/en/disease/detail/254525","names":{"fr":{"name":"Syndrome de Temple lié à une microdélétion paternelle 14q32.2","synonyms":["Del(14)(q32.2) paternelle"]},"de":{"name":"Temple-Syndrom durch paternale Mikrodeletion 14q32.2","synonyms":["Del (14)(q32.2), paternal"]},"es":{"name":"Síndrome de Temple por microdeleción paterna 14q32.2","synonyms":["Del(14)(q32.2) paterna"]},"it":{"name":"Sindrome da microdelezione 14q32.2 paterna","synonyms":["Del (14)(q32.2) paterna","Monosomia 14q32.2 paterna"]},"nl":{"name":"Syndroom van Temple door paternale 14q32.2-microdeletie","synonyms":["Paternale del(14)(q32.2)"]},"pt":{"name":"Síndrome de Temple por microdeleção 14q32.2 paterna"},"pl":{"name":"Zespół mikrodelecji ojcowskiej 14q32.2","synonyms":["Monosomia ojcowska 14q32.2","Ojcowska del(14)(q32.2)"]},"cs":{"name":"Syndrom paternální mikrodelece 14q32.2","synonyms":["Paternální del (14)(q32.2)","Paternální monozomie 14q32.2"]},"uk":{"name":"Синдром Темпла, зумовлений батьковою мікроделецією 14q32.2","synonyms":["Батьківська del(14)(q32.2)"]},"zh":{"name":"父源染色体14q32.2微缺失所致Temple综合征","synonyms":["父源14q32.2缺失"]},"tr":{"name":"Paternal 14q32.2 mikrodelesyonuna bağlı tapınak sendromu","synonyms":["Paternal del (14) (q32.2)"]}},"xrefs":[{"source":"OMIM","code":"616222","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD44.E","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"191128701"},{"source":"MONDO","code":"0016780","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679639","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262110,"name":"Partial deletion of the long arm of chromosome 14 syndrome","classifications":[147,156]},{"orpha":254516,"name":"Temple syndrome","classifications":[147,156,181,193]}],"children":[],"genes":[{"symbol":"DLK1","name":"delta like non-canonical Notch ligand 1","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"18176563[PMID]","hgnc":"2907","ensembl":"ENSG00000185559","omim":"176290","loci":["14q32.2"]},{"symbol":"MEG3","name":"maternally expressed 3","gene_type":"Non-coding RNA","association":"Role in the phenotype of","status":"Assessed","source":"18176563[PMID]_24801763[PMID]","hgnc":"14575","ensembl":"ENSG00000214548","omim":"605636","loci":["14q32.2"]},{"symbol":"RTL1","name":"retrotransposon Gag like 1","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"18176563[PMID]","hgnc":"14665","ensembl":"ENSG00000254656","omim":"611896","loci":["14q32.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":9.0,"area":"Worldwide","status":"Validated","source":"26377239[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26377239[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-10-22","source":"29659920[PMID]_24891339[PMID]","terms":[{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001773","label":"Short foot","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200055","label":"Small hand","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001319","label":"Neonatal hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011220","label":"Prominent forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000119","label":"Abnormality of the genitourinary system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031878","label":"Acromicria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030084","label":"Clinodactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002714","label":"Downturned corners of mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007010","label":"Poor fine motor coordination","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000826","label":"Precocious puberty","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004482","label":"Relative macrocephaly","frequency":"Occasional (29-5%)","criteria":null}]}}