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Here we describe a 4\u2010year\u2010old male CED patient whose features include dolichocephaly, multi\u2010suture craniosynostosis, epicanthus, frontal bossing, narrow thorax, limb shortening, and brachydactyly. The patient presented early\u2010onset chronic kidney disease and was transplanted at the age of 2\u2009years and 5\u00a0months. At the age of 3.5\u2009years a retinal degeneration was diagnosed. Targeted sequencing by NGS revealed the presence of compound heterozygous variants in the <jats:italic>WDR35<\/jats:italic> gene. The variants are a novel missense change in exon 9 p.(Gly303Arg) and a previously described nonsense variant in exon 18 p.(Leu641*). Our findings suggest that patients with <jats:italic>WDR35<\/jats:italic> defects may be at risk to develop early\u2010onset retinal degeneration. Therefore, CED patients with pathogenic variation in this gene should be assessed at least once by the ophthalmologist before the age of 4\u2009years to detect early signs of retinal degeneration.<\/jats:p>","DOI":"10.1002\/ajmg.a.62903","type":"journal-article","created":{"date-parts":[[2022,7,25]],"date-time":"2022-07-25T08:24:57Z","timestamp":1658737497000},"page":"3071-3077","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["<i>WDR35<\/i> variants in a cranioectodermal dysplasia patient with early onset end\u2010stage renal disease and retinal dystrophy"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4662-9336","authenticated-orcid":false,"given":"Joanna","family":"Walczak\u2010Sztulpa","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Poznan University of Medical Sciences  Poznan 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