{"orpha":726695,"name":"Developmental delay-vision anomalies-hand stereotypies-intellectual disability syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["HECW2-related neurodevelopmental disorder"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-726695/","orphanet_url":"https://www.orpha.net/en/disease/detail/726695","names":{"fr":{"name":"Syndrome de retard du développement-anomalies visuels- stéréotypies des mains-déficience intellectuelle","synonyms":["Trouble du neurodéveloppement associé à HECW2"]},"de":{"name":"Entwicklungsverzögerung-Sehstörungen-stereotype Handbewegungen-Intelligenzminderung-Syndrom","synonyms":["HECW2-assoziierte neurologische Entwicklungsstörung"]},"es":{"name":"Síndrome de retraso del desarrollo-anomalías visuales-movimientos estereotipados de las manos-discapacidad intelectual","synonyms":["Trastorno del neurodesarrollo asociado al gen HECW2"]},"it":{"name":"Sindrome ritardo dello sviluppo-anomalie della vista-stereotipie delle mani-disabilità intellettiva","synonyms":["Malattia del neurosviluppo correlata a HECW2"]},"nl":{"name":"Ontwikkelingsachterstand - afwijkingen van zicht - stereotiepe handbewegingen - intellectuele achterstand-syndroom","synonyms":["HECW2-gerelateerde neurologische ontwikkelingsstoornis"]},"pt":{"name":"Developmental delay-vision anomalies-hand stereotypies-intellectual disability syndrome"},"pl":{"name":"Developmental delay-vision anomalies-hand stereotypies-intellectual disability syndrome","synonyms":["HECW2-related neurodevelopmental disorder"]},"cs":{"name":"Developmental delay-vision anomalies-hand stereotypies-intellectual disability syndrome","synonyms":["HECW2-related neurodevelopmental disorder"]}},"xrefs":[{"source":"OMIM","code":"617268","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]}],"children":[],"genes":[{"symbol":"HECW2","name":"HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"34321324[PMID]","hgnc":"29853","ensembl":"ENSG00000138411","omim":"617245","loci":["2q32.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":35.0,"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}