{"orpha":660021,"name":"Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["AMOTL1-related syndrome"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-660021/","orphanet_url":"https://www.orpha.net/en/disease/detail/660021","names":{"fr":{"name":"Syndrome de fente oro-faciale-anomalies cardiaques-dysmorphie faciale","synonyms":["Syndrome associé à AMOTL1"]},"de":{"name":"Orofaziale Spaltbildung-Herzanomalien-Hochwuchs-Gesichtsdysmorphie-Syndrom","synonyms":["AMOTL1-assoziiertes Syndrom"]},"es":{"name":"Síndrome de hendidura orofacial-anomalías cardíacas-dismorfia facial","synonyms":["Síndrome asociado al gen AMOTL1"]},"it":{"name":"Sindrome schisi orofacciale-cardiopatie-dismorfismi facciali","synonyms":["Sindrome correlata a AMOTL1"]},"nl":{"name":"Orofaciale schisis - hartanomalieën - faciale dysmorfie-syndroom","synonyms":["AMOTL1-gerelateerd syndroom"]},"pt":{"name":"Síndrome de fenda orofacial-anomalias cardíacas-dismorfia facial","synonyms":["Síndrome AMOTL1-relacionada"]},"pl":{"name":"Zespół z rozszczepem jamy ustnej i twarzy, wadami serca i dysmorfią twarzy","synonyms":["AMOTL1-related syndrome"]},"cs":{"name":"Syndrom zahrnující orofaciální rozštěpy, srdeční anomálie a faciální dysmorfii","synonyms":["AMOTL1-related syndrome"]},"uk":{"name":"Синдром розщеплення лицьової кістки-серцевих аномалій-лицьового дизморфізму","synonyms":["Синдром, повязаний з AMOTL1"]}},"xrefs":[{"source":"OMIM","code":"621192","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0971064","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"971064","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5925125","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":139039,"name":"Orofacial clefting syndrome","classifications":[147,156,200,209]}],"children":[],"genes":[{"symbol":"AMOTL1","name":"angiomotin like 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"36751037[PMID]","hgnc":"17811","ensembl":"ENSG00000166025","omim":"614657","loci":["11q21"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":13.0,"area":"Worldwide","status":"Validated","source":"36751037[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"36751037[PMID]_ORPHANET"}],"phenotypes":null}