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Our aim was to describe their phenotype. Therefore, all Volendam PCD patients seen at the Amsterdam UMC were included in this study. Data were collected on lung function, microbiology, radiology, and ear\u2010nose\u2010throat (ENT) symptoms. A mixed effects model estimated lung function decline in %point per year (95% confidence interval [CI]). Thirty\u2010three (60%) out of approximately 56 Volendam PCD patients were treated at our center and included in this study. Only 30% of patients had situs inversus. FEV<jats:sub>1<\/jats:sub> declined in children (\u22121.43%\/year, CI: \u22121.80\/\u22121.05), but not in adults (0.01%\/year, CI: \u22120.36\/0.38). <jats:italic>Pseudomonas aeruginosa<\/jats:italic> was cultured in 21% of children and 60% of adults, respectively. Patients who have been infected at some point with <jats:italic>P. aeruginosa<\/jats:italic> had a steeper decline in FEV<jats:sub>1<\/jats:sub> as compared to patients that have never been infected. Neonatal symptoms (79%) and ENT problems (94%) were common; fertility issues however, were not (11%) common. Compared to other PCD cohorts, the Volendam\/CCDC114 patients have a moderately severe phenotype with lung function decline predominantly occurring in childhood.<\/jats:p>","DOI":"10.1002\/ajmg.c.31968","type":"journal-article","created":{"date-parts":[[2022,3,28]],"date-time":"2022-03-28T06:15:44Z","timestamp":1648448144000},"page":"89-101","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Primary ciliary dyskinesia in Volendam: Diagnostic and phenotypic features in patients with a <scp><i>CCDC114<\/i><\/scp> mutation"],"prefix":"10.1002","volume":"190","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9895-9636","authenticated-orcid":false,"given":"Renate","family":"Kos","sequence":"first","affiliation":[{"name":"Department of Respiratory Medicine Amsterdam University Medical Centers \u2013 locatie AMC  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3954-5828","authenticated-orcid":false,"given":"Jo\u00ebl","family":"Isra\u00ebls","sequence":"additional","affiliation":[{"name":"Department of Pediatric Respiratory Medicine and Allergy Emma Children's Hospital, Amsterdam University Medical Centers  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine D. 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