{"orpha":697764,"name":"Intellectual disability-nasal speech-craniofacial dysmorphism syndrome due to CNOT2 mutation","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This disease is described under Intellectual disability-nasal speech-craniofacial dysmorphism syndrome","url":"https://raremap.alftech.space/d/ORPHA-697764/","orphanet_url":"https://www.orpha.net/en/disease/detail/697764","names":{"fr":{"name":"Syndrome de déficience intellectuelle-voix nasale-dysmorphie craniofaciale dû à une mutation de CNOT2"},"de":{"name":"Intelligenzminderung-nasale Sprache-kraniofaziale Dysmorphie-Syndrom, CNOT-assoziiert"},"es":{"name":"Síndrome de discapacidad intelectual-voz nasal-dismorfia craneofacial por mutación de CNOT2"},"it":{"name":"Sindrome disabilità intellettiva-voce nasale-dismorfismi craniofacciali da mutazione di CNOT2"},"nl":{"name":"Intellectuele achterstand - nasale spraak - craniofaciale dysmorfie-syndroom door CNOT2-mutatie"},"pt":{"name":"Intellectual disability-nasal speech-craniofacial dysmorphism syndrome due to CNOT2 mutation"},"pl":{"name":"Intellectual disability-nasal speech-craniofacial dysmorphism syndrome due to CNOT2 mutation"},"cs":{"name":"Intellectual disability-nasal speech-craniofacial dysmorphism syndrome due to CNOT2 mutation"}},"xrefs":[{"source":"OMIM","code":"618608","qualifier":"NTBT","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":697760,"name":"Intellectual disability-nasal speech-craniofacial dysmorphism syndrome","classifications":[147,156,181]}],"children":[],"genes":[{"symbol":"CNOT2","name":"CCR4-NOT transcription complex subunit 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"36224108[PMID]","hgnc":"7878","ensembl":"ENSG00000111596","omim":"604909","loci":["12q15"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}