{"orpha":254531,"name":"Temple syndrome due to paternal 14q32.2 hypomethylation","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This disease is described under Temple syndrome","url":"https://raremap.alftech.space/d/ORPHA-254531/","orphanet_url":"https://www.orpha.net/en/disease/detail/254531","names":{"fr":{"name":"Syndrome de Temple lié à une hypométhylation paternelle 14q32.2"},"de":{"name":"Temple-Syndrom durch paternale 14q32.2-Hypomethylierung"},"es":{"name":"Síndrome de Temple por hipometilación en 14q32.2 del alelo paterno"},"it":{"name":"Sindrome da ipometilazione paterna 14q32.2"},"nl":{"name":"Syndroom van Temple door paternale 14q32.2-hypomethylatie"},"pt":{"name":"Síndrome da hipometilação paterna 14q32.2"},"pl":{"name":"Zespół hipometylacji ojcowskiej 14q32.2"},"cs":{"name":"Syndrom paternální hypomethylace 14q32.2"},"uk":{"name":"Синдром Темпла, зумовлений батьковим гіпометилюванням 14q32.2"},"zh":{"name":"父源染色体14q32.2低甲基化所致坦Temple合征"},"tr":{"name":"Paternal 14q32.2 hipometilasyonuna bağlı tapınak sendromu"}},"xrefs":[{"source":"OMIM","code":"616222","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0016782","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680721","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"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":12.0,"area":"Worldwide","status":"Validated","source":"28640239[PMID]_24891339[PMID]"},{"type":"Point prevalence","qualification":"Class 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(99-80%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000826","label":"Precocious puberty","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011220","label":"Prominent forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030084","label":"Clinodactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004673","label":"Decreased facial expression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003124","label":"Hypercholesterolemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004904","label":"Maturity-onset diabetes of the young","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007010","label":"Poor fine motor coordination","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000403","label":"Recurrent otitis media","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000817","label":"Reduced eye contact","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:0000322","label":"Short philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000445","label":"Wide nose","frequency":"Occasional (29-5%)","criteria":null}]}}