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dominująca izolowana utrata słuchu nerwowo-czuciowa typu DFNA","Autosomalna dominująca niesyndromiczna utrata słuchu czuciowo-nerwowa typu DFNA","Autosomalna dominująca niesyndromiczna utrata słuchu nerwowo-czuciowa typu DFNA","Rzadka autosomalna dominująca niesyndromiczna głuchota czuciowo-nerwowa typu DFNA"]},"cs":{"name":"Autozomálně dominantní nesyndromová senzorineurální hluchota (zkratka DFNA)","synonyms":["Autozomálně dominantní izolovaná senzorineurální hluchota, typ DFNA","Autozomálně dominantní izolovaná senzorineurální ztráta sluchu, typ DFNA","Autozomálně dominantní nesyndromická senzorineurální hluchota, typ DFNA","Autozomálně dominantní nesyndromická senzorineurální ztráta sluchu, typ DFNA"]},"uk":{"name":"Рідкісна аутосомно-домінантна несиндромальна сенсоневральна глухота, тип DFNA","synonyms":["Аутосомно-домінантна ізольована нейросенсорна глухота типу DFNA","Аутосомно-домінантна ізольована нейросенсорна приглухуватість типу DFNA","Аутосомно-домінантна ізольована 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homeobox 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301607[PMID]_24148127[PMID]","hgnc":"9220","ensembl":"ENSG00000091010","omim":"602460","loci":["5q32"]},{"symbol":"PTPRQ","name":"protein tyrosine phosphatase receptor type Q","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29309402[PMID]","hgnc":"9679","ensembl":"ENSG00000139304","omim":"603317","loci":["12q21.31"]},{"symbol":"SIX1","name":"SIX homeobox 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301607[PMID]","hgnc":"10887","ensembl":"ENSG00000126778","omim":"601205","loci":["14q23.1"]},{"symbol":"SLC17A8","name":"solute carrier family 17 member 8","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) 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in","status":"Assessed","source":"23936043[PMID]","hgnc":"5318","ensembl":"ENSG00000041982","omim":"187380","loci":["9q33.1"]},{"symbol":"TRRAP","name":"transformation/transcription domain associated protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31231791[PMID]","hgnc":"12347","ensembl":"ENSG00000196367","omim":"603015","loci":["7q22.1"]},{"symbol":"USP48","name":"ubiquitin specific peptidase 48","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"34059922[PMID]","hgnc":"18533","ensembl":"ENSG00000090686","omim":"617445","loci":["1p36.12"]},{"symbol":"WFS1","name":"wolframin ER transmembrane glycoprotein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301607[PMID]_24148127[PMID]","hgnc":"12762","ensembl":"ENSG00000109501","omim":"606201","loci":["4p16.1"]},{"symbol":"SSBP1","name":"single stranded DNA binding protein 1","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"29182774[PMID]","hgnc":"11317","ensembl":"ENSG00000106028","omim":"600439","loci":["7q34"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}