{"orpha":293642,"name":"Blepharophimosis-intellectual disability syndrome","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":"A rare group of syndromic intellectual disabilities characterized by global developmental delay (DD)/intellectual disability (ID), blepharophimosis and other craniofacial dysmorphisms, and organ anomalies.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-293642/","orphanet_url":"https://www.orpha.net/en/disease/detail/293642","names":{"fr":{"name":"Syndrome de blépharophimosis-déficience intellectuelle","definition":"Groupe rare de déficiences intellectuelles syndromiques caractérisées par un retard global de développement (RD)/une déficience intellectuelle (DI), un blépharophimosis et d'autres dysmorphies craniofaciales, ainsi que des malformations des organes."},"de":{"name":"Blepharophimose-Intelligenzminderung-Syndrom","definition":"Eine seltene Gruppe der syndromalen Form der Intelligenzminderung, die durch eine allgemeine Entwicklungsverzögerung (DD)/Intelligenzminderung (ID), Blepharophimose und andere kraniofaziale Dysmorphien sowie Organanomalien gekennzeichnet ist."},"es":{"name":"Síndrome de blefarofimosis-discapacidad intelectual","definition":"Es un grupo poco frecuente de síndromes de discapacidad intelectual caracterizado por retraso global del desarrollo (RGD)/ discapacidad intelectual (DI), blefarofimosis y otras dismorfias craneofaciales, así como anomalías orgánicas."},"it":{"name":"Sindrome blefarofimosi-deficit cognitivo","synonyms":["BMRS"]},"nl":{"name":"Blefarofimose - intellectuele achterstand-syndroom","definition":"Een zeldzame groep van syndromale intellectuele achterstand, gekenmerkt door algehele ontwikkelingsachterstand/intellectuele achterstand, blefarofimose en andere vormen van craniofaciale dysmorfie, en orgaananomalieën."},"pt":{"name":"Síndrome de blefarofimose-perturbação do desenvolvimento intelectual"},"pl":{"name":"Zespół zwężenie szpar powiekowych-niepełnosprawność intelektualna","synonyms":["BMRS"]},"cs":{"name":"Syndrom zahrnující blefarofimózu a mentální retardaci","synonyms":["BMRS"]},"uk":{"name":"Синдром блефарофімозу-інтелектуальної недостатності","synonyms":["BMRS"]},"zh":{"name":"睑裂-智力障碍综合征","synonyms":["睑裂-智力发育迟缓综合征"]},"tr":{"name":"Blefarofimoz-zihinsel yetersizlik sendromu","synonyms":["BMRS"]}},"xrefs":[{"source":"MONDO","code":"0017393","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"17393","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5229849","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10892","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]},{"orpha":98578,"name":"Rare disorder with ptosis","classifications":[147,156,189]}],"children":[{"orpha":700160,"name":"ADNP-related blepharophimosis-intellectual disability syndrome","type":"Disease"},{"orpha":293707,"name":"Blepharophimosis-intellectual disability syndrome, MKB type","type":"Malformation syndrome"},{"orpha":2728,"name":"Blepharophimosis-intellectual disability syndrome, Ohdo type","type":"Malformation syndrome"},{"orpha":3047,"name":"Blepharophimosis-intellectual disability syndrome, SBBYS type","type":"Malformation syndrome"},{"orpha":293725,"name":"Blepharophimosis-intellectual disability syndrome, Verloes type","type":"Malformation syndrome"},{"orpha":720321,"name":"Developmental delay-blepharophimosis-telecanthus-facial dysmorphism-intellectual disability syndrome","type":"Malformation syndrome"},{"orpha":1620,"name":"Distal deletion 3p syndrome","type":"Malformation syndrome"},{"orpha":637013,"name":"SMARCA2-related blepharophimosis-intellectual disability syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive","Mitochondrial inheritance","X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":58.0,"area":"Worldwide","status":"Validated","source":"22077973[PMID]_21567902[PMID]_18798845[PMID]_16700052[PMID]_15176598[PMID]_15127758[PMID]_12868473[PMID]_10955481[PMID]_10631927[PMID]_9605288[PMID]_9546834[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}