{"orpha":716116,"name":"Global developmental delay-facial dysmorphism-hands and feet anomalies syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["CUL3-related neurodevelopmental disorder"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-716116/","orphanet_url":"https://www.orpha.net/en/disease/detail/716116","names":{"fr":{"name":"Syndrome de retard global de développement-dysmorphie faciale-anomalies des mains et des pieds","synonyms":["Trouble du neurodéveloppement associé à CUL3"]},"de":{"name":"Globale Entwicklungsverzögerung-Gesichtsdysmorphie-Hand- und Fußanomalien-Syndrom","synonyms":["Neurologische Entwicklungsstörung, CUL3-assoziierte"]},"es":{"name":"Síndrome de retraso global del desarrollo-dismorfia facial-anomalías en manos y pies","synonyms":["Trastorno del neurodesarrollo asociado a CUL3"]},"it":{"name":"Sindrome ritardo globale dello sviluppo-dismorfismi facciali-anomalie delle mani e dei piedi","synonyms":["Malattia del neurosviluppo correlata a CUL3"]},"nl":{"name":"Algehele ontwikkelingsachterstand - faciale dysmorfie - hand- en voetanomalieën-syndroom","synonyms":["CUL3-gerelateerde neurologische ontwikkelingsstoornis"]},"pt":{"name":"Global developmental delay-facial dysmorphism-hands and feet anomalies syndrome"},"pl":{"name":"Zespół globalnego opóźnienia rozwoju, dysmorfii twarzy oraz anomalii dłoni i stóp","synonyms":["CUL3-related neurodevelopmental disorder"]},"cs":{"name":"Global developmental delay-facial dysmorphism-hands and feet anomalies syndrome","synonyms":["CUL3-related neurodevelopmental disorder"]}},"xrefs":[{"source":"OMIM","code":"619239","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","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":"CUL3","name":"cullin 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"39301775[PMID]","hgnc":"2553","ensembl":"ENSG00000036257","omim":"603136","loci":["2q36.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}