{"orpha":714385,"name":"Global developmental delay-high pain tolerance-intellectual disability syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["DEAF1-related autosomal dominant neurodevelopmental disorder","Vulto-van Silfout-de Vries syndrome"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-714385/","orphanet_url":"https://www.orpha.net/en/disease/detail/714385","names":{"fr":{"name":"Syndrome de retard global de développement-tolérance élevée à la douleur-déficience intellectuelle","synonyms":["Syndrome de Vulto-van Silfout-de Vries","Trouble du neurodéveloppement autosomique dominant associé à DEAF1"]},"de":{"name":"Globale Entwicklungsverzögerung-Hohe Schmerztoleranz-Intelligenzminderung-Syndrom","synonyms":["DEAF1-assoziierte autosomal-dominante neurologische Entwicklungsstörung","Vulto-van Silfout-de Vries-Syndrom"]},"es":{"name":"Síndrome de retraso global del desarrollo-alta tolerancia al dolor-discapacidad intelectual","synonyms":["Síndrome de Vulto-van Silfout-de Vries","Trastorno del neurodesarrollo asociado a DEAF1 autosómico dominante","Trastorno del neurodesarrollo autosómico dominante asociado a DEAF-1"]},"it":{"name":"Sindrome ritardo dello sviluppo globale-elevata tolleranza al dolore-disabilità intellettiva","synonyms":["Malattia del neurosviluppo autosomica dominante correlata a DEAF1","Sindrome di Vulto-van Silfout-de Vries"]},"nl":{"name":"Algehele ontwikkelingsachterstand - hoge pijntolerantie - intellectuele achterstand-syndroom","synonyms":["DEAF1-gerelateerde autosomaal dominante neurologische ontwikkelingsstoornis","Syndroom van Vulto-van Silfout-de Vries"]},"pt":{"name":"Global developmental delay-high pain tolerance-intellectual disability syndrome"},"pl":{"name":"Zespół globalnego opóźnienia rozwoju, wysokiej tolerancja bólu i niepełnosprawności intelektualnej","synonyms":["DEAF1-related autosomal dominant neurodevelopmental disorder","Vulto-van Silfout-de Vries syndrome"]},"cs":{"name":"Global developmental delay-high pain tolerance-intellectual disability syndrome","synonyms":["DEAF1-related autosomal dominant neurodevelopmental disorder","Vulto-van Silfout-de Vries syndrome"]}},"xrefs":[{"source":"OMIM","code":"615828","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"DEAF1","name":"DEAF1 transcription factor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24726472[PMID]","hgnc":"14677","ensembl":"ENSG00000177030","omim":"602635","loci":["11p15.5"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":35.0,"area":"Worldwide","status":"Validated","source":"24726472[PMID]_38073621[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"24726472[PMID]_38073621[PMID]_ORPHANET"}],"phenotypes":null}