{"orpha":228407,"name":"Craniofacial dysmorphism-skeletal anomalies-intellectual disability syndrome","type":"Malformation syndrome","group":"Disorder","status":"inactive","flags":["Deprecated entity"],"synonyms":["TMCO1 defect syndrome"],"definition":null,"note":"This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Cerebrofaciothoracic dysplasia","url":"https://raremap.alftech.space/d/ORPHA-228407/","orphanet_url":"https://www.orpha.net/en/disease/detail/228407","names":{"fr":{"name":"Syndrome de dysmorphie craniofaciale-anomalies squelettiques-déficience intellectuelle","synonyms":["Syndrome de déficit en TMCO1"]},"de":{"name":"Kaniofaziale Dysmorphie-Skelettanomalien-Intellektuelle Beeinträchtigung-Syndrom","synonyms":["TMCO1-Defekt-Syndrom"]},"es":{"name":"Síndrome de dismorfia craneofacial-anomalías esqueléticas-discapacidad intelectual","synonyms":["Síndrome por defecto de TMCO1"]},"it":{"name":"Sindrome dismorfismi craniofacciali-anomalie scheletriche-deficit cognitivo","synonyms":["Sindrome da deficit di TMCO1"]},"nl":{"name":"Craniofaciale dysmorfie - skeletale anomalieën - intellectuele achterstand-syndroom","synonyms":["TMCO1-defectsyndroom"]},"pt":{"name":"Síndrome de dismorfia craniofacial-anomalias esqueléticas-perturbação do desenvolvimento intelectual","synonyms":["Síndrome de deficiência TMCO1"]},"pl":{"name":"Zespół dysmorfii czaszkowo-twarzowej, anomalii szkieletu i niepełnosprawności intelektulanej","synonyms":["Zespół defektu TMCO1"]},"cs":{"name":"Syndrom zahrnující kraniofaciální dysmorfismus, anomálie skeletu a mentální retardaci","synonyms":["Syndrom poruchy TMCO1"]},"uk":{"name":"Синдром черепно-лицьового дизморфізму-скелетних аномалій-інтелектуальної недостатності","synonyms":["Синдром дефекту TMCO1"]},"zh":{"name":"颅面畸形-骨骼异常-智力障碍综合征","synonyms":["TMCO1基因缺陷综合征"]},"tr":{"name":"Kraniofasiyal dismorfizm-iskelet anomalileri-zihinsel yetersizlik sendromu","synonyms":["TMCO1 defekt sendromu"]}},"xrefs":[{"source":"OMIM","code":"213980","qualifier":"E","icd_relation":null,"validated":true}],"associations":[{"type":"Moved to","orpha":1394,"name":"Cerebrofaciothoracic dysplasia"}],"incoming_associations":[],"preferential_parent":null,"parents":[],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}