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Biallelic pathogenic variants in\n                    <jats:italic>PPP1R21<\/jats:italic>\n                    have been associated with a syndromic neurodevelopmental disorder from studying 13 affected individuals. In this report, we present 11 additional individuals from nine unrelated families and their clinical, radiological, and molecular findings. We identified eight different variants in\n                    <jats:italic>PPP1R21<\/jats:italic>\n                    , of which six were novel variants. Global developmental delay and hypotonia are neurological features that were observed in all individuals. There is also a similar pattern of dysmorphic features with coarse faces as a gestalt observed in several individuals. Common findings in 75% of individuals with available brain imaging include delays in myelination, wavy outline of the bodies of the lateral ventricles, and slight prominence of the bodies of the lateral ventricles.\n                    <jats:italic>PPP1R21\u2010<\/jats:italic>\n                    related neurodevelopmental disorder is associated with a consistent phenotype and should be considered in highly consanguineous individuals presenting with developmental delay\/intellectual disability along with coarse facial features.\n                  <\/jats:p>","DOI":"10.1111\/cge.14492","type":"journal-article","created":{"date-parts":[[2024,2,14]],"date-time":"2024-02-14T23:45:07Z","timestamp":1707954307000},"page":"620-629","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Expanding the phenotype of\n                    <scp>\n                      <i>PPP1R21<\/i>\n                    <\/scp>\n                    \u2010related neurodevelopmental disorder"],"prefix":"10.1111","volume":"105","author":[{"given":"Mohammed","family":"Almannai","sequence":"first","affiliation":[{"name":"Genetics and Precision Medicine department (GPM), King Abdullah Specialized Children's Hospital (KASCH), King Abdulaziz Medical City Ministry of National Guard Health Affairs (MNG\u2010HA)  Riyadh Saudi Arabia"},{"name":"Medical Genomics Research Department, King Abdullah International Medical Research Center, Ministry of National Guard Health Affairs, King Saud Bin Abdulaziz University for Health Sciences Ministry of National Guard Health Affairs  Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2233-3423","authenticated-orcid":false,"given":"Dana","family":"Marafi","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas USA"},{"name":"Department of Pediatrics, College of Medicine Kuwait University  Safat Kuwait"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7840-0002","authenticated-orcid":false,"given":"Maha S.","family":"Zaki","sequence":"additional","affiliation":[{"name":"Clinical Genetics Department Human Genetics and Genome Research Institute, National Research Centre  Cairo Egypt"},{"name":"Genetics Department Armed Forces College of Medicine (AFCM)  Cairo Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reza","family":"Maroofian","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular disorders, UCL Queen Square Institute of Neurology University College London  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephanie","family":"Efthymiou","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular disorders, UCL Queen Square Institute of Neurology University College London  London 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