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Here, we describe 11 affected individuals from four unpublished families with ultra\u2010rare missense variants in <jats:italic>GGPS1<\/jats:italic> and provide follow\u2010up details from a previously reported family. Our cohort replicated most of the previously described clinical features of <jats:italic>GGPS1<\/jats:italic> deficiency; however, hearing loss was present in only 46% of the individuals. This report consolidates the disease\u2010causing role of biallelic variants in <jats:italic>GGPS1<\/jats:italic> and demonstrates that hearing loss and ovarian insufficiency might be a variable feature of the <jats:italic>GGPS1<\/jats:italic>\u2010associated muscular dystrophy.<\/jats:p>","DOI":"10.1002\/acn3.51633","type":"journal-article","created":{"date-parts":[[2022,7,23]],"date-time":"2022-07-23T11:24:22Z","timestamp":1658575462000},"page":"1465-1474","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["<scp><i>GGPS1<\/i><\/scp>\u2010associated muscular dystrophy with and without hearing loss"],"prefix":"10.1002","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1640-4010","authenticated-orcid":false,"given":"Rauan","family":"Kaiyrzhanov","sequence":"first","affiliation":[{"name":"Department of Neuromuscular Disorders UCL Queen Square Institute of Neurology  London WC1N 3BG 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