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A number of individuals initially carried clinical diagnoses of glycogen storage disease IV (GSD IV), but were later found to harbor <jats:italic>RBCK1<\/jats:italic> pathogenic variants, demonstrating challenges of correctly diagnosing <jats:italic>RBCK1<\/jats:italic>\u2010related disease. This study carried out a phenotypic comparison between <jats:italic>RBCK1<\/jats:italic>\u2010related disease and GSD IV to identify features that clinically differentiate these diagnoses. Literature review and retrospective chart review identified 25 individuals with <jats:italic>RBCK1<\/jats:italic>\u2010related disease and 36 with the neuromuscular subtype of GSD IV. Clinical features were evaluated to assess for statistically significant differences between the conditions. At a system level, any cardiac, autoinflammation, immunodeficiency, growth, or dermatologic involvement were suggestive of <jats:italic>RBCK1<\/jats:italic>, whereas any respiratory involvement suggested GSD IV. Several features warrant further exploration as predictors of <jats:italic>RBCK1<\/jats:italic>, such as generalized weakness, heart transplant, and recurrent infections, among others. Distinguishing <jats:italic>RBCK1<\/jats:italic>\u2010related disease will facilitate correct diagnoses and pave the way for accurately identifying affected individuals, as well as for developing management recommendations, treatment, and an enhanced understanding of the natural history. This knowledge may also inform which individuals thought to have GSD IV should undergo reevaluation for <jats:italic>RBCK1<\/jats:italic>.<\/jats:p>","DOI":"10.1002\/ajmg.a.63574","type":"journal-article","created":{"date-parts":[[2024,3,4]],"date-time":"2024-03-04T12:05:18Z","timestamp":1709553918000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Unraveling a history of overlap: A phenotypic comparison of <scp><i>RBCK1<\/i><\/scp>\u2010related disease and glycogen storage disease type <scp>IV<\/scp>"],"prefix":"10.1002","volume":"194","author":[{"ORCID":"https:\/\/orcid.org\/0009-0004-2645-6767","authenticated-orcid":false,"given":"Haley M.","family":"Crane","sequence":"first","affiliation":[{"name":"Master of Science in Genetic Counseling Program University of Pennsylvania  Philadelphia Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2349-267X","authenticated-orcid":false,"given":"Stephanie","family":"Asher","sequence":"additional","affiliation":[{"name":"Penn Medicine, Department of Medicine Division of Translational Medicine and Human Genetics  Philadelphia Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"Conway","sequence":"additional","affiliation":[{"name":"Master of Science in Genetic Counseling Program University of Pennsylvania  Philadelphia Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Theodore G.","family":"Drivas","sequence":"additional","affiliation":[{"name":"Penn Medicine, Department of Medicine Division of Translational Medicine and Human Genetics  Philadelphia Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2515-2097","authenticated-orcid":false,"given":"Staci","family":"Kallish","sequence":"additional","affiliation":[{"name":"Penn Medicine, Department of Medicine Division of Translational Medicine and Human Genetics  Philadelphia Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,3,4]]},"reference":[{"doi-asserted-by":"publisher","key":"e_1_2_11_2_1","DOI":"10.1002\/pd.1533"},{"doi-asserted-by":"publisher","key":"e_1_2_11_3_1","DOI":"10.1016\/j.bbrc.2007.07.074"},{"doi-asserted-by":"publisher","key":"e_1_2_11_4_1","DOI":"10.1172\/JCI118517"},{"doi-asserted-by":"publisher","key":"e_1_2_11_5_1","DOI":"10.1038\/ni.2457"},{"doi-asserted-by":"publisher","key":"e_1_2_11_6_1","DOI":"10.1212\/01.wnl.0000138429.11433.0d"},{"doi-asserted-by":"publisher","key":"e_1_2_11_7_1","DOI":"10.1002\/ajmg.a.31166"},{"doi-asserted-by":"publisher","key":"e_1_2_11_8_1","DOI":"10.1177\/1093526619890224"},{"doi-asserted-by":"publisher","key":"e_1_2_11_9_1","DOI":"10.1186\/s12891-020-03884-0"},{"issue":"24","key":"e_1_2_11_10_1","first-page":"1124","article-title":"Severe cardiomyopathy revealing amylopectinosis. 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