{"orpha":729649,"name":"Early-onset leucoencephalopaty-spasticity-stroke-neurodevelopmental disorder","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-729649/","orphanet_url":"https://www.orpha.net/en/disease/detail/729649","names":{"fr":{"name":"Leucoencéphalopathie à début précoce-spasticité-accident vasculaire cérébral ischémique-trouble du neurodéveloppement"},"de":{"name":"Früh beginnende Leukoenzephalopathie mit Spastik, Schlaganfall und neurologischer Entwicklungsstörung"},"es":{"name":"Leucoencefalopatía-espasticidad-accidente cerebrovascular-trastorno del neurodesarrollo de inicio precoz"},"it":{"name":"Leucoencefalopatia ad esordio precoce-spasticità-ictus-malattia del neurosviluppo"},"nl":{"name":"Vroeg optredende leuko-encefalopathie - spasticiteit - cerebrovasculair accident - neurologische ontwikkelingsstoornis","synonyms":["Vroeg optredende leukencefalopathie - spasticiteit - beroerte - neurologische ontwikkelingsstoornis"]},"pt":{"name":"Early-onset-leucoencephalopaty-spasticity-stroke-neurodevelopmental disorder"},"pl":{"name":"Early-onset leucoencephalopaty-spasticity-stroke-neurodevelopmental disorder"},"cs":{"name":"Early-onset leucoencephalopaty-spasticity-stroke-neurodevelopmental disorder"}},"xrefs":[{"source":"OMIM","code":"125310","qualifier":"NTBT","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":477754,"name":"Genetic cerebral small vessel disease","classifications":[156,181]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":68356,"name":"Leukodystrophy","classifications":[156,181]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]}],"children":[],"genes":[{"symbol":"NOTCH3","name":"notch receptor 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"39191170[PMID]","hgnc":"7883","ensembl":"ENSG00000074181","omim":"600276","loci":["19p13.12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":30.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}