{"orpha":438216,"name":"PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This disease is described under PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome","url":"https://raremap.alftech.space/d/ORPHA-438216/","orphanet_url":"https://www.orpha.net/en/disease/detail/438216","names":{"fr":{"name":"Syndrome d'hypotonie-épilepsie-encéphalopathie sévère neonatale associé à PURA dû à une mutation ponctuelle"},"de":{"name":"Schwere neonatale Hypotonie-Krämpfe-Enzephalopathie-Syndrom durch Punktmutationen im PURA-Gen"},"es":{"name":"Síndrome neonatal de hipotonía-crisis-encefalopatía grave asociado a PURA por una mutación puntual"},"it":{"name":"Sindrome correlata mutazioni puntiformi di PURA con encefalopatia- crisi epilettiche-ipotonia neonatale grave"},"nl":{"name":"PURA-gerelateerde ernstige neonatale hypotonie - insulten - encefalopathie-syndroom door een puntmutatie"},"pt":{"name":"Síndrome de hipotonia neonatal grave-convulsões-encefalopatia PURA-relacionada devida a mutação pontual"},"pl":{"name":"Zespół ciężkiej hipotonii noworodkowej, napadów padaczkowych i encefalopatii zależny od PURA spowodowany mutacją punktową"},"cs":{"name":"PURA-vázaná těžká neonatální hypotonie, záchvaty a encefalopatie způsobené bodovými mutacemi"},"uk":{"name":"Синдром тяжкої неонатальної гіпотонії-судом-енцефалопатії, повязаний з PURA, спричинений точковою мутацією"},"zh":{"name":"点突变所致PURA相关性严重新生儿肌张力低下-癫痫-脑病综合征"},"tr":{"name":"Nokta mutasyonuna bağlı PURA-ilişkili ağır yenidoğan hipotoni-nöbetler-ensefalopati sendromu"}},"xrefs":[{"source":"OMIM","code":"616158","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G40.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014512","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4015357","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":438213,"name":"PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome","classifications":[147,156,181]}],"children":[],"genes":[{"symbol":"PURA","name":"purine rich element binding protein A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25342064[PMID]","hgnc":"9701","ensembl":"ENSG00000185129","omim":"600473","loci":["5q31.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":24.0,"area":"Worldwide","status":"Validated","source":"25533962[PMID]_DOI: 10.1101/mcs.a000356[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25533962[PMID]_DOI: 10.1101/mcs.a000356[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-11-12","source":"27148565[PMID]_28448108[PMID]_25439098[PMID]_25342064[PMID]","terms":[{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very 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(29-5%)","criteria":null},{"hpo":"HP:0011081","label":"Incisor macrodontia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000276","label":"Long face","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000637","label":"Long palpebral fissure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011220","label":"Prominent forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006829","label":"Severe muscular hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000736","label":"Short attention span","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010804","label":"Tented upper lip vermilion","frequency":"Occasional 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