{"orpha":314655,"name":"Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["5q31.3 microdeletion syndrome","Del(5)(q31.3)","Monosomy 5q31.3"],"definition":null,"note":"This disease is described under PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome","url":"https://raremap.alftech.space/d/ORPHA-314655/","orphanet_url":"https://www.orpha.net/en/disease/detail/314655","names":{"fr":{"name":"Syndrome d'hypotonie-épilepsie-encéphalopathie sévère neonatale dû à une microdélétion 5q31.3","synonyms":["Del(5)(q31.3)","Monosomie 5q31.3","Syndrome de microdélétion 5q31.3"]},"de":{"name":"Schwere neonatale Hypotonie-Krämpfe-Enzephalopathie-Syndrom durch Mikrodeletion 5q31.3","synonyms":["Del(5)(q31.3)","Mikrodeletionssyndrom 5q31.3","Monosomie 5q31.3"]},"es":{"name":"Síndrome de hipotonía-crisis-encefalopatía neonatal grave por microdeleción 5q31.3","synonyms":["Del(5)(q31.3)","Monosomía 5q31.3","Síndrome de microdeleción 5q31.3"]},"it":{"name":"Sindrome ipotonia neonatale grave-epilessia-encefalopatia, da microdelezione 5q31.3","synonyms":["Del(5)(q31.3)","Monosomia 5q31.3","Sindrome da microdelezione 5q31.3"]},"nl":{"name":"Ernstige neonatale hypotonie - insulten - encefalopathie-syndroom door 5q31.3-microdeletie","synonyms":["5q31.3-microdeletiesyndroom","Del(5)(q31.3)","Monosomie 5q31.3"]},"pt":{"name":"Síndrome de hipotonia neonatal grave-convulsões-encefalopatia por microdeleção 5q31.3","synonyms":["Del(5)(q31.3)","Monossomia 5q31.3"]},"pl":{"name":"Ciężka hipotonia noworodków-napady padaczkowe-encefalopatia spowodowane mikrodelecją 5q31.3","synonyms":["Del(5)(q31.3)","Monosomia 5q31.3","Zespół mikrodelecji 5q31.3"]},"cs":{"name":"Mikrodeleční syndrom 5q31.3 zahrnující těžkou novorozeneckou hypotonii, záchvaty a encefalopatii","synonyms":["Del(5)(q31.3)","Monozomie 5q31.3","Mikrodeleční syndrom 5q31.3"]},"uk":{"name":"Синдром тяжкої неонатальної гіпотонії-судом-енцефалопатії. зумовлений мікроделецією 5q31.3","synonyms":["Синдром мікроделеції 5q31.3","Del(5)(q31.3)","Моносомія 5q31.3"]},"zh":{"name":"5q31.3微缺失所致重型新生儿低张力-惊厥-脑病综合征","synonyms":["5q31.3微缺失综合征"]},"tr":{"name":"5q31.3 mikrodelesyonuna bağlı ağır Yenidoğan hipotoni-nöbetler-ensefalopati sendromu","synonyms":["Del(5)(q31.3)","Monozomi 5q31.3","5q31.3 mikrodelesyon sendromu"]}},"xrefs":[{"source":"OMIM","code":"616158","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017811","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4708510","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]},{"orpha":262038,"name":"Partial deletion of the long arm of chromosome 5 syndrome","classifications":[147,156]}],"children":[],"genes":[{"symbol":"PURA","name":"purine rich element binding protein A","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"23950017[PMID]","hgnc":"9701","ensembl":"ENSG00000185129","omim":"600473","loci":["5q31.3"]}],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"23950017[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_23950017[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-11-12","source":"22711443[PMID]_28448108[PMID]","terms":[{"hpo":"HP:0012444","label":"Brain atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0410263","label":"Brain imaging abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002002","label":"Deep philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012448","label":"Delayed myelination","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000341","label":"Narrow forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001319","label":"Neonatal hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005487","label":"Prominent metopic ridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005338","label":"Sparse lateral eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010804","label":"Tented upper lip vermilion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002104","label":"Apnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011951","label":"Aspiration pneumonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025190","label":"Bilateral tonic-clonic seizure with generalized onset","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011097","label":"Epileptic spasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011167","label":"Focal tonic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002791","label":"Hypoventilation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010442","label":"Polydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006532","label":"Recurrent pneumonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006829","label":"Severe muscular hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011098","label":"Speech apraxia","frequency":"Occasional (29-5%)","criteria":null}]}}