{"orpha":177901,"name":"Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This disease is described under Prader-Willi syndrome","url":"https://raremap.alftech.space/d/ORPHA-177901/","orphanet_url":"https://www.orpha.net/en/disease/detail/177901","names":{"fr":{"name":"Syndrome de Prader-Willi dû à une délétion 15q11q13 d'origine paternelle de type 1","synonyms":["Syndrome de Prader-Willi dû à une monosomie 15q11q13 d'origine paternelle de type 1"]},"de":{"name":"Prader-Willi-Syndrom durch paternale Deletion von 15q11.13, Typ 1"},"es":{"name":"Síndrome de Prader-Willi por deleción paterna 15q11q13 tipo 1"},"it":{"name":"Sindrome di Prader-Willi da delezione paterna di 15q11q13, tipo 1"},"nl":{"name":"Prader-Willisyndroom door paternale deletie van 15q11q13 type 1"},"pt":{"name":"Síndrome de Prader-Willi por deleção paterna de 15q11.13, tipo 1"},"pl":{"name":"Zespół Pradera i Willego spowodowany ojcowską delecją 15q11q13 typu 1"},"cs":{"name":"Praderův-Williho syndrom na podkladě paternální delece 15q11q13, typ 1","synonyms":["Prader-Williho syndrom na podkladě paternální delece 15q11q13, typ 1"]},"uk":{"name":"Синдром Прадера-Віллі, зумовлений батьковою делецією 15q11q13, тип 1"},"zh":{"name":"父源性15q11q13片段缺失所致Prader-Willi综合征1型"},"tr":{"name":"15q11q13 tip 1'in paternal delesyonuna bağlı Prader-Willi sendromu"}},"xrefs":[{"source":"OMIM","code":"615547","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD90.3","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0015783","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680507","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98793,"name":"Prader-Willi syndrome due to paternal 15q11q13 deletion","classifications":[147,156,181,193,201,205]}],"children":[],"genes":[{"symbol":"MAGEL2","name":"MAGE family member L2","gene_type":"gene with protein product","association":"Role in the phenotype 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box 116 cluster","gene_type":"Non-coding RNA","association":"Role in the phenotype of","status":"Assessed","source":"20301505[PMID]_20588305[PMID]_22694955[PMID]","hgnc":"32781","ensembl":null,"omim":"605436","loci":["15q11.2"]},{"symbol":"SNRPN","name":"small nuclear ribonucleoprotein polypeptide N","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"20301505[PMID]","hgnc":"11164","ensembl":"ENSG00000128739","omim":"182279","loci":["15q11.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Neonatal"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-11-16","source":"27777904[PMID]_31920975[PMID]_20301505[PMID]_26062517[PMID]","terms":[{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Very frequent 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(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:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002871","label":"Central apnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001558","label":"Decreased fetal movement","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031100","label":"Decreased inhibin B level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002714","label":"Downturned corners of mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002578","label":"Gastroparesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001385","label":"Hip dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010829","label":"Impaired temperature 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