{"orpha":693549,"name":"Facial dysmorphism-Intellectual disability-rhombencephalosynapsis syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["CEBALID","Craniofacial defects-dysmorphic ears-brain abnormalities-language delay-intellectual disability","MCTT","MN1 C-terminal truncation syndrome"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-693549/","orphanet_url":"https://www.orpha.net/en/disease/detail/693549","names":{"fr":{"name":"Syndrome de dysmorphie faciale-déficience intellectuelle-rhombencéphalosynapsis","synonyms":["CEBALID","MCTT"]},"de":{"name":"Gesichtsdysmorphien-Intelligenzminderung-Rhombenzephalosynapsis-Syndrom","synonyms":["CEBALID-Syndrom","Kraniofaziale Defekte-dysmorphe Ohren-Hirnanomalien-verzögerte Sprachentwicklung-Intelligenzminderung-Syndrom"]},"es":{"name":"Síndrome de dismorfia facial-discapacidad intelectual-romboencefalosinapsis","synonyms":["CEBALID","Defectos craneofaciales-orejas dismórficas-anomalías cerebrales-retraso del lenguaje-discapacidad intelectual","MCTT","Síndrome CEBALID","Síndrome de truncamiento C-terminal de MN1","Síndrome de truncamiento C-terminal del gen MN1"]},"it":{"name":"Sindrome dismorfismi facciali-disabilità intellettiva-romboencefalosinapsi","synonyms":["CEBALID","Difetti craniofacciali-orecchie dismorfiche-anomalie cerebrali-ritardo del linguaggio-disabilità intellettiva","MCTT","Sindrome da troncamento C-terminale di MN1"]},"nl":{"name":"Faciale dysmorfie - intellectuele achterstand - rombencefalosynapsis-syndroom","synonyms":["CEBALID","Craniofaciale defecten - dysmorfe oren - hersenafwijkingen - taalachterstand - intellectuele achterstand","MCTT","Syndroom door C-terminale truncatie van MN1"]},"pt":{"name":"Síndrome de dismorfia facial-perturbação do desenvolvimento intelectual-romboencefalosinapse","synonyms":["CEBALID","Defeitos craniofaciais-orelhas dismórficas-anomalias cerebrais-atraso linguagem-perturbação do desenvolvimento intelectual","MCTT","Síndrome de truncagem MN1 C-terminal"]},"pl":{"name":"Zespół dysmorfii twarzy, niepełnosprawności intelektualnej i aplazji robaka z połączeniem półkul móżdżku","synonyms":["CEBALID","Craniofacial defects-dysmorphic ears-brain abnormalities-language delay-intellectual disability","MCTT","MN1 C-terminal truncation syndrome"]},"cs":{"name":"Facial dysmorphism-Intellectual disability-rhombencephalosynapsis syndrome","synonyms":["CEBALID","Craniofacial defects-dysmorphic ears-brain abnormalities-language delay-intellectual disability","MCTT","MN1 C-terminal truncation syndrome"]}},"xrefs":[{"source":"OMIM","code":"618774","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":730699,"name":"Genetic syndromic rhombencephalosynapsis","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":729538,"name":"Syndromic rhombencephalosynapsis","classifications":[147,181]}],"children":[],"genes":[{"symbol":"MN1","name":"MN1 proto-oncogene, transcriptional regulator","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"31834374[PMID]_31839203[PMID]_37575653[PMID]","hgnc":"7180","ensembl":"ENSG00000169184","omim":"156100","loci":["22q12.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":26.0,"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}