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These disorders mostly manifest with multisystem involvement. Individuals with ALG8\u2010CDG commonly present with hypotonia, protein\u2010losing enteropathy, and hepatic involvement. Here, we describe seven unreported individuals diagnosed with ALG8\u2010CDG based on biochemical and molecular testing and we identify nine novel variants in <jats:italic>ALG8,<\/jats:italic> bringing the total to 26 individuals with ALG8\u2010CDG in the medical literature. In addition to the typical multisystem involvement documented in ALG8\u2010CDG, our cohort includes the two oldest patients reported and further expands the phenotype of ALG8\u2010CDG to include stable intellectual disability, autism spectrum disorder and other neuropsychiatric symptoms. We further expand the clinical features in a variety of organ systems including ocular, musculoskeletal, dermatologic, endocrine, and cardiac abnormalities and suggest a comprehensive evaluation and monitoring strategy to improve clinical management.<\/jats:p>","DOI":"10.1002\/jimd.12527","type":"journal-article","created":{"date-parts":[[2022,6,18]],"date-time":"2022-06-18T10:00:52Z","timestamp":1655546452000},"page":"969-980","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["<scp>ALG8\u2010CDG<\/scp>: Molecular and phenotypic expansion suggests clinical management guidelines"],"prefix":"10.1002","volume":"45","author":[{"given":"Daniah","family":"Albokhari","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Division of Human Genetics, Section of Metabolism The Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"},{"name":"Department of Pediatrics Taibah University College of 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