{"orpha":675782,"name":"Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective Rabenosyn-5"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-675782/","orphanet_url":"https://www.orpha.net/en/disease/detail/675782","names":{"fr":{"name":"Syndrome d'hypotonie progressive-déficience intellectuelle-dysmorphie faciale par déficit FYVE de RBSN","synonyms":["Syndrome d'hypotonie progressive-déficience intellectuelle-dysmorphie faciale par déficit FYVE de Rabenosyn-5"]},"de":{"name":"Progressive Hypotonie-Intelligenzminderung-Gesichtsdysmorphie-Syndrom durch RBSN-Mutation in der FYVE-Domäne"},"es":{"name":"Síndrome de hipotonía progresiva-discapacidad intelectual-dismorfia facial debido a RBSN defectuoso en FYVE","synonyms":["Síndrome de hipotonía progresiva-discapacidad intelectual-dismorfismo facial debido a Rabenosyn-5 defectuoso en FYVE"]},"it":{"name":"Sindrome ipotonia progressiva-disabilità intellettiva-dismorfismi facciali da deficit di FYVE in RBSN","synonyms":["Sindrome ipotonia progressiva-disabilità intellettiva-dismorfismi facciali da deficit di FYVE in rabenosyna-5"]},"nl":{"name":"Progressieve hypotonie - intellectuele achterstand - faciale dysmorfie-syndroom door FYVE-deficiënt Rabenosyn-5","synonyms":["Progressieve hypotonie - intellectuele achterstand - faciale dysmorfie-syndroom door FYVE-deficiënt RBSN"]},"pt":{"name":"Síndrome de hipotonia progressiva-perturbação do desenvolvimento intelectual-dismorfia facial por RBSN FYVE-deficiência","synonyms":["Síndrome de hipotonia progressiva-perturbação do desenvolvimento intelectual-dismorfia facial por Rabenosina-5 FYVE-deficiência"]},"pl":{"name":"Zespół postępującej hipotonii, niepełnosprawności intelektualnej i dysmorfii twarzy spowodowanej RBSN z defektem FYVE","synonyms":["Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective Rabenosyn-5"]},"cs":{"name":"Syndrom zahrnující progresivní hypotonii, intelektovou nedostatečnost a faciální dysmorfii související s defektní FYVE doménou RBSN","synonyms":["Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective Rabenosyn-5"]},"uk":{"name":"Синдром прогресуючої гіпотонії-інтелектуальної недостатності-лицевого дисморфізму, зумовлений FYVE-дефектного RBSN","synonyms":["Синдром прогресуючої гіпотонії-інтелектуальної недостатності-лицьового дисморфізму внаслідок FYVE-дефекту рабенозину-5"]}},"xrefs":[{"source":"OMIM","code":"620937","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-11","code":"LD90.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0971138","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"971138","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5925097","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":309340,"name":"Disorder of lysosomal-related organelles","classifications":[150,156]},{"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":"RBSN","name":"rabenosyn, RAB effector","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"35652444[PMID]","hgnc":"20759","ensembl":"ENSG00000131381","omim":"609511","loci":["3p25.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":6.0,"area":"Worldwide","status":"Validated","source":"26192890[PMID]_35652444[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"26192890[PMID]_35652444[PMID]_ORPHANET"}],"phenotypes":null}