{"orpha":686488,"name":"RNU4-2-related autosomal dominant neurodevelopmental disorder","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["ReNU syndrome"],"definition":"A rare, genetic, syndromic neurodevelopmental disorder characterized by global development delay with absent/poor speech, mild to profound intellectual disability, hypotonia and microcephaly. Other common clinical manifestations include brain abnormalities, behavioral disturbances, seizures, ophthalmological and skeletal manifestations, feeding difficulties, weight gain problems and distinctive facial features.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-686488/","orphanet_url":"https://www.orpha.net/en/disease/detail/686488","names":{"fr":{"name":"Trouble neurodéveloppemental autosomique dominant associé à RNU4-2","synonyms":["Syndrome ReNU"],"definition":"Trouble neurodéveloppemental syndromique génétique rare caractérisé par un retard global de développement et une absence ou insuffisance de langage, une déficience intellectuelle légère à profonde, une hypotonie et une microcéphalie. D'autres signes cliniques courants comprennent des anomalies cérébrales, des troubles du comportement, des convulsions, des troubles ophtalmologiques et squelettiques, des difficultés à s'alimenter, des problèmes de prise de poids et une dysmorphie caractéristique."},"de":{"name":"RNU4-2-assoziierte neurologische Entwicklungsstörung","synonyms":["NEDHAFA","ReNU-Syndrom"],"definition":"Eine seltene syndromale neurologische Entwicklungsstörung, die durch eine globale Entwicklungsverzögerung mit fehlender/schlechter Sprache, leichter bis hochgradiger Intelligenzminderung, Hypotonie und Mikrozephalie gekennzeichnet ist. Weitere häufige klinische Manifestationen sind Hirnanomalien, Verhaltensstörungen, Krampfanfälle, ophthalmologische und skelettale Manifestationen, Fütterungsschwierigkeiten, Probleme bei der Gewichtszunahme und ausgeprägte Gesichtszüge."},"es":{"name":"Trastorno del neurodesarrollo autosómico dominante asociado a RNU4-2","synonyms":["Síndrome ReNU"]},"it":{"name":"Malattia del neurosviluppo autosomica dominante correlata a RNU4-2","synonyms":["Sindrome ReNU","Malattia del neurosviluppo-dismorfismi facciali-anomalie della sostanza bianca-bassa statura correlata a RNU4-2"]},"nl":{"name":"RNU4-2-gerelateerde autosomaal dominante neurologische ontwikkelingsstoornis","synonyms":["ReNU-syndroom"],"definition":"Een zeldzame genetische syndromale neurologische ontwikkelingsstoornis, gekenmerkt door algehele ontwikkelingsachterstand met afwezige/slechte spraak, milde tot zeer ernstige intellectuele achterstand, hypotonie en microcefalie. Overige gangbare klinische manifestaties zijn onder meer afwijkingen van de hersenen, gedragsstoornissen, insulten, manifestaties van oog en skelet, voedingsproblemen, problemen met gewichtstoename en typische gelaatskenmerken."},"pt":{"name":"Doença do neurodesenvolvimento RNU4-2-relacionada - dismorfia facial - anomalias da substância branca - síndrome de baixa estatura","synonyms":["Síndrome do neurodesenvolvimento RNU4-2-relacionada"]},"pl":{"name":"Zaburzenie neurorozwojowe dziedziczone autosomalnie dominująco związane z RNU4-2","synonyms":["ReNU syndrome"]},"cs":{"name":"RNU4-2 asociovaný syndrom zahrnující neurovývojovou poruchu, faciální dysmorfii, abnormality bílé hmoty a malý vzrůst","synonyms":["ReNU syndrome"]}},"xrefs":[{"source":"OMIM","code":"620851","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"971172","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":183570,"name":"Genetic malformation syndrome with short stature","classifications":[156]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":139021,"name":"Malformation syndrome with short stature","classifications":[147]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]}],"children":[],"genes":[{"symbol":"RNU4-2","name":"RNA, U4 small nuclear 2","gene_type":"Non-coding RNA","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"38821540[PMID]_38645094[PMID]","hgnc":"10193","ensembl":"ENSG00000202538","omim":"620823","loci":["12q24.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":189.0,"area":"Worldwide","status":"Validated","source":"38859706[PMID]_38821540[PMID]_38991538[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"38859706[PMID]_38821540[PMID]_38991538[PMID]_ORPHANET"}],"phenotypes":null}