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Disorders affecting this sense consequently also affect the patients\u2019 general quality of life. Because the underlying genetics of congenital olfactory disorders (COD) have not been thoroughly investigated yet, this systematic review aimed at providing information on genes that have previously been reported to be mutated in patients suffering from COD. This was achieved by systematically reviewing existing literature on 3 databases, namely PubMed, Ovid Medline, and ISI Web of Science. Genes and the type of disorder, that is, isolated and\/or syndromic COD were included in this study, as were the patients\u2019 associated abnormal features, which were categorized according to the affected organ(-system). Our research yielded 82 candidate genes\/chromosome loci for isolated and\/or syndromic COD. Our results revealed that the majority of these are implicated in syndromic COD, a few accounted for syndromic and isolated COD, and the least underly isolated COD. Most commonly, structures of the central nervous system displayed abnormalities. This study is meant to assist clinicians in determining the type of COD and detecting potentially abnormal features in patients with confirmed genetic variations. Future research will hopefully expand this list and thereby further improve our understanding of COD.<\/jats:p>","DOI":"10.1093\/chemse\/bjac028","type":"journal-article","created":{"date-parts":[[2022,10,11]],"date-time":"2022-10-11T17:30:37Z","timestamp":1665509437000},"source":"Crossref","is-referenced-by-count":16,"title":["Genetics of congenital olfactory dysfunction: a systematic review of the literature"],"prefix":"10.1093","volume":"47","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8433-9172","authenticated-orcid":false,"given":"Matthias","family":"Deller","sequence":"first","affiliation":[{"name":"Charite\u0301\u2014Universita\u0308tsmedizin Berlin, Department of Pediatric Neurology , Berlin , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janine","family":"Gellrich","sequence":"additional","affiliation":[{"name":"Abteilung Neurop\u00e4diatrie Medizinische Fakult\u00e4t Carl Gustav Carus, Technische Universit\u00e4t , Dresden , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisabeth C","family":"Lohrer","sequence":"additional","affiliation":[{"name":"Abteilung Neurop\u00e4diatrie Medizinische Fakult\u00e4t Carl Gustav Carus, Technische Universit\u00e4t , Dresden , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valentin A","family":"Schriever","sequence":"additional","affiliation":[{"name":"Charite\u0301\u2014Universita\u0308tsmedizin Berlin, Department of Pediatric Neurology , Berlin , Germany"},{"name":"Abteilung Neurop\u00e4diatrie Medizinische Fakult\u00e4t Carl Gustav Carus, Technische Universit\u00e4t , Dresden , Germany"},{"name":"Charite\u0301\u2014Universita\u0308tsmedizin Berlin, Center for Chronically Sick Children (Sozialpa\u0308diatrisches Zentrum, SPZ) , Berlin , 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