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Biallelic pathogenic variants of <jats:italic>PUS3<\/jats:italic> have been previously associated with severe intellectual disability, microcephaly, epilepsy, and short stature. We identified a novel homozygous <jats:italic>PUS3<\/jats:italic> frameshift variant in a child with facial dysmorphisms, growth failure, microcephaly, retinal dystrophy, cerebellar hypoplasia, congenital heart defect, and right kidney hypoplasia. This patient further expands the phenotypic spectrum of <jats:italic>PUS3<\/jats:italic>\u2010related disorders to include a more severe syndromic presentation.<\/jats:p>","DOI":"10.1002\/ajmg.a.62547","type":"journal-article","created":{"date-parts":[[2021,10,29]],"date-time":"2021-10-29T10:36:33Z","timestamp":1635503793000},"page":"635-641","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["<scp><i>PUS3<\/i><\/scp>\u2010related disorder: Report of a novel patient and delineation of the phenotypic spectrum"],"prefix":"10.1002","volume":"188","author":[{"given":"Alessandro","family":"Borghesi","sequence":"first","affiliation":[{"name":"Neonatal Intensive Care Unit Fondazione IRCCS Policlinico San Matteo  Pavia Italy"},{"name":"Fellay lab, Ecole Polytechnique F\u00e9d\u00e9rale de Lausanne  Lausanne 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