{"orpha":720321,"name":"Developmental delay-blepharophimosis-telecanthus-facial dysmorphism-intellectual disability syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["TLK2-related neurodevelopmental disorder"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-720321/","orphanet_url":"https://www.orpha.net/en/disease/detail/720321","names":{"fr":{"name":"Syndrome de retard du développement-blépharophimosis-télécanthus-dysmorphie faciale-déficience intellectuelle","synonyms":["Trouble du neurodéveloppement associé à TLK2"]},"de":{"name":"Entwicklungsverzögerung-Blepharophimose-Telekanthus-Gesichtsdysmorphie-Intelligenzminderung-Syndrom","synonyms":["TLK2-assoziierte neurologische Entwicklungsstörung"]},"es":{"name":"Síndrome de retraso del desarrollo-blefarofimosis-telecanto-dismorfia facial-discapacidad intelectual","synonyms":["Trastorno del neurodesarrollo asociado a TLK2"]},"it":{"name":"Sindrome ritardo dello sviluppo-blefarofimosi-telecanto-dismorfismi facciali-disabilità intellettiva","synonyms":["Malattia del neurosviluppo correlata a TLK2"]},"nl":{"name":"Ontwikkelingsachterstand - blefarofimose - telecanthus - faciale dysmorfie - intellectuele achterstand-syndroom","synonyms":["TLK2-gerelateerde neurologische ontwikkelingsstoornis"]},"pt":{"name":"Developmental delay-blepharophimosis-telecanthus-facial dysmorphism-intellectual disability syndrome"},"pl":{"name":"Developmental delay-blepharophimosis-telecanthus-facial dysmorphism-intellectual disability syndrome","synonyms":["TLK2-related neurodevelopmental disorder"]},"cs":{"name":"Developmental delay-blepharophimosis-telecanthus-facial dysmorphism-intellectual disability syndrome","synonyms":["TLK2-related neurodevelopmental disorder"]}},"xrefs":[{"source":"OMIM","code":"618050","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":293642,"name":"Blepharophimosis-intellectual disability syndrome","classifications":[147,156,181,189]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]}],"children":[],"genes":[{"symbol":"TLK2","name":"tousled like kinase 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29861108[PMID]_39538191[PMID]","hgnc":"11842","ensembl":"ENSG00000146872","omim":"608439","loci":["17q23.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}