{"orpha":698090,"name":"Ophthalmological abnormalities-facial dysmorphism-intellectual disability syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["BRPF1-related neurodevelopmental disorder"],"definition":"A rare genetic syndrome characterized by developmental delay, intellectual disability, ophthalmological abnormalities and dysmorphic facial features such as ptosis and round face.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-698090/","orphanet_url":"https://www.orpha.net/en/disease/detail/698090","names":{"fr":{"name":"Syndrome d'anomalies ophtalmologiques-dysmorphie faciale-déficience intellectuelle","synonyms":["Trouble du neurodéveloppement associé à BRPF1"],"definition":"Syndrome génétique rare caractérisé par un retard de développement, une déficience intellectuelle, des anomalies ophtalmologiques et des traits faciaux dysmorphiques de type ptosis et visage rond."},"de":{"name":"Ophthalmologische Anomalien-Gesichtsdysmorphien-Intelligenzminderung-Syndrom","synonyms":["IDDDFP","Intellektuelle Entwicklungsstörung mit dysmorphen Gesichtszügen und Ptosis","Neurologische Entwicklungsstörung, BRPF1-assoziierte"],"definition":"Ein seltene genetische Form der intellektuellen Entwicklungsstörung, die gekennzeichnet ist durch Entwicklungsverzögerung, Intelligenzminderung, ophthalmologische Anomalien und Gesichtsdysmorphien wie Ptosis und rundes Gesicht."},"es":{"name":"Síndrome de anomalías oftalmológicas-dismorfia facial-discapacidad intelectual","synonyms":["Trastorno del neurodesarrollo asociado a BRPF1"]},"it":{"name":"Sindrome anomalie oculari, dismorfismi facciali-disabilità intellettiva","synonyms":["Malattia del neurosviluppo correlata a BRPF1"]},"nl":{"name":"Oftalmologische afwijkingen - faciale dysmorfie - intellectuele achterstand-syndroom","synonyms":["BRPF1-gerelateerde neurologische ontwikkelingsstroonis"],"definition":"Een zeldzaam genetisch syndroom, gekenmerkt door ontwikkelingsachterstand, intellectuele achterstand, oftalmologische afwijkingen, en dysmorfe gelaatskenmerken zoals ptosis en rond aangezicht."},"pt":{"name":"Ophthalmological abnormalities-facial dysmorphism-intellectual disability syndrome"},"pl":{"name":"Ophthalmological abnormalities-facial dysmorphism-intellectual disability syndrome","synonyms":["BRPF1-related neurodevelopmental disorder"]},"cs":{"name":"Ophthalmological abnormalities-facial dysmorphism-intellectual disability syndrome","synonyms":["BRPF1-related neurodevelopmental disorder"]}},"xrefs":[{"source":"OMIM","code":"617333","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":"BRPF1","name":"bromodomain and PHD finger containing 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"39837771[PMID]_27939639[PMID]_27939640[PMID]","hgnc":"14255","ensembl":"ENSG00000156983","omim":"602410","loci":["3p25.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":79.0,"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}