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Among 15 individuals with <jats:italic>RPL10<\/jats:italic>\u2010related disorder reported so far, only one patient had retinitis pigmentosa and microcephaly was observed in approximately half of the cases. By exome sequencing, three Italian and one Spanish male children, from three independent families, were found to carry the same hemizygous novel missense variant p.(Arg32Leu) in <jats:italic>RPL10<\/jats:italic>, inherited by their unaffected mother in all cases. The variant, not reported in gnomAD, is located in the 28S rRNA binding region, affecting an evolutionary conserved residue and predicted to disrupt the salt\u2010bridge between Arg32 and Asp28. In addition to features consistent with <jats:italic>RPL10\u2010<\/jats:italic>related disorder, all four boys had retinal degeneration and postnatal microcephaly. Pathogenic variants in genes responsible for inherited retinal degenerations were ruled out in all the probands. A novel missense <jats:italic>RPL10<\/jats:italic> variant was detected in four probands with a recurrent phenotype including ID, dysmorphic features, progressive postnatal microcephaly, and retinal anomalies. The presented individuals suggest that retinopathy and postnatal microcephaly are clinical clues of <jats:italic>RPL10<\/jats:italic>\u2010related disorder, and at least the retinal defect might be more specific for the p.(Arg32Leu) <jats:italic>RPL10<\/jats:italic> variant, suggesting a specific genotype\/phenotype correlation.<\/jats:p>","DOI":"10.1002\/ajmg.a.62911","type":"journal-article","created":{"date-parts":[[2022,7,25]],"date-time":"2022-07-25T11:35:38Z","timestamp":1658748938000},"page":"3032-3040","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Postnatal microcephaly and retinal involvement expand the phenotype of <scp><i>RPL10<\/i><\/scp>\u2010related disorder"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3934-2342","authenticated-orcid":false,"given":"Gerarda","family":"Cappuccio","sequence":"first","affiliation":[{"name":"Department of Translational Medicine, Section of Pediatrics Federico II University  Naples Italy"},{"name":"Telethon Institute of Genetics and Medicine  Naples Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Margherita Lucia","family":"De Bernardi","sequence":"additional","affiliation":[{"name":"Department of Translational Medicine, Section of Pediatrics Federico II University  Naples Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessia","family":"Morlando","sequence":"additional","affiliation":[{"name":"Department of Translational Medicine, Section of Pediatrics Federico II University  Naples Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4054-3651","authenticated-orcid":false,"given":"Cristina","family":"Peduto","sequence":"additional","affiliation":[{"name":"Department of Precision Health University of Campania 'Luigi Vanvitelli'  Naples Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2725-437X","authenticated-orcid":false,"given":"Iris","family":"Scala","sequence":"additional","affiliation":[{"name":"Department of Translational Medicine, Section of Pediatrics Federico II University  Naples Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5927-1185","authenticated-orcid":false,"given":"Michele","family":"Pinelli","sequence":"additional","affiliation":[{"name":"Department of Translational Medicine, Section of Pediatrics Federico II University  Naples Italy"},{"name":"Department of Molecular Medicine and Medical Biotechnology (DMMBM) Federico II University  Naples Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emanuele","family":"Bellacchio","sequence":"additional","affiliation":[{"name":"Genetics and Rare Diseases Research Division Bambino Ges\u00f9 Children's Hospital  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Flavio Gioele","family":"Gallo","sequence":"additional","affiliation":[{"name":"Department of Pediatric Ophthalmology University of Salerno  Fisciano Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adriano","family":"Magli","sequence":"additional","affiliation":[{"name":"Department of Pediatric Ophthalmology University of Salerno  Fisciano Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carmen","family":"Plaitano","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology A.O.U. 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