{"orpha":694946,"name":"Alazami-Yuan syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["ALYUS","Developmental delay-facial dysmorphism-hirsutism syndrome"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-694946/","orphanet_url":"https://www.orpha.net/en/disease/detail/694946","names":{"fr":{"name":"Syndrome d'Alazami-Yuan","synonyms":["ALYUS","Syndrome de retard du développement-dysmorphie faciale-hirsutism"]},"de":{"name":"Alazami-Yuan-Syndrom","synonyms":["ALYUS","Entwicklungsverzögerung-Gesichtsdysmorphien-Hirsutismus-Syndrom"]},"es":{"name":"Síndrome de Alazami-Yuan","synonyms":["ALYUS","Síndrome de retraso del desarrollo-dismorfia facial-hirsutismo"]},"it":{"name":"Sindrome di Alazami-Yuan","synonyms":["ALYUS","Sindrome ritardo dello sviluppo-dismorfismi facciali-irsutismo"]},"nl":{"name":"ASyndroom van Alazami-Yuan","synonyms":["ALYUS","Ontwikkelingsachterstand - faciale dysmorfie - hirsutisme-syndroom"]},"pt":{"name":"Alazami-Yuan syndrome"},"pl":{"name":"Alazami-Yuan syndrome","synonyms":["ALYUS","Developmental delay-facial dysmorphism-hirsutism syndrome"]},"cs":{"name":"Alazami-Yuan syndrome","synonyms":["ALYUS","Developmental delay-facial dysmorphism-hirsutism syndrome"]}},"xrefs":[{"source":"OMIM","code":"617126","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":183570,"name":"Genetic malformation syndrome with short stature","classifications":[156]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":139021,"name":"Malformation syndrome with short stature","classifications":[147]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":79365,"name":"Rare disorder with hypertrichosis","classifications":[156,187]}],"children":[],"genes":[{"symbol":"TAF6","name":"TATA-box binding protein associated factor 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25574841[PMID]_32030742[PMID]_35317131[PMID]","hgnc":"11540","ensembl":"ENSG00000106290","omim":"602955","loci":["7q22.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"25558065[PMID]_25574841[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"25558065[PMID]_25574841[PMID]_ORPHANET"}],"phenotypes":null}