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Through an exome sequencing approach (as part of the Deciphering Developmental Disorders [DDD] study) we have identified five unrelated individuals with previously unreported, <jats:italic>de novo ZBTB20<\/jats:italic> pathogenic missense variants. All five missense variants targeted the C2H2 zinc finger domains. This genotype\u2010up approach has allowed further refinement of the Primrose syndrome phenotype. Major characteristics (&gt;90% individuals) include an intellectual disability (most frequently in the moderate range), a recognizable facial appearance and brain MRI abnormalities, particularly abnormalities of the corpus callosum. Other frequent clinical associations (in 50\u201390% individuals) include sensorineural hearing loss (83%), hypotonia (78%), cryptorchidism in males (75%), macrocephaly (72%), behavioral issues (56%), and dysplastic\/hypoplastic nails (57%). Based upon these clinical data we discuss our current management of patients with Primrose syndrome.<\/jats:p>","DOI":"10.1002\/ajmg.a.61024","type":"journal-article","created":{"date-parts":[[2019,1,14]],"date-time":"2019-01-14T05:21:08Z","timestamp":1547443268000},"page":"344-349","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":22,"title":["Refining the Primrose syndrome phenotype: A study of five patients with <i>ZBTB20 de novo<\/i> variants and a review of the literature"],"prefix":"10.1002","volume":"179","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5987-3813","authenticated-orcid":false,"given":"Ruth","family":"Cleaver","sequence":"first","affiliation":[{"name":"South West Thames Regional Genetics Service St. George's University Hospitals NHS Foundation Trust  London United Kingdom"},{"name":"Peninsula Clinical Genetics Service Royal Devon and Exeter NHS Foundation Trust  Exeter United 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