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To better characterize the variable syndromes associated with <jats:italic>DYNC1H1<\/jats:italic>, we undertook a detailed analysis of reported patients in the medical literature through June 30, 2019. In sum we identified 200 patients from 143 families harboring 103 different <jats:italic>DYNC1H1<\/jats:italic> variants, and added reports for four unrelated patients identified at our center, three with novel variants. The most common features associated with <jats:italic>DYNC1H1<\/jats:italic> were neuromuscular (NM) disease (largely associated with variants in the stem domain), ID with MCD (largely associated with variants in the motor domain), or a combination of these phenotypes. Despite these trends, exceptions are noted throughout. Overall, <jats:italic>DYNC1H1<\/jats:italic> is associated with variable neurodevelopmental and\/or neuromuscular phenotypes that overlap. To avoid confusion <jats:italic>DYNC1H1<\/jats:italic> disorders may be best categorized at this time by more general descriptions rather than phenotype\u2010specific nomenclature such as SMA or CMT. We therefore propose the terms: <jats:italic>DYNC1H1<\/jats:italic>\u2010related NM disorder, <jats:italic>DYNC1H1<\/jats:italic>\u2010related CNS disorder, and <jats:italic>DYNC1H1<\/jats:italic>\u2010related combined disorder. Our single center's experience may be evidence that disease\u2010causing variants in this gene are more prevalent than currently recognized.<\/jats:p>","DOI":"10.1002\/ajmg.a.61729","type":"journal-article","created":{"date-parts":[[2020,7,13]],"date-time":"2020-07-13T08:09:14Z","timestamp":1594627754000},"page":"2049-2057","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":40,"title":["<scp><i>DYNC1H1<\/i><\/scp>\u2010related disorders: A description of four new unrelated patients and a comprehensive review of previously reported variants"],"prefix":"10.1002","volume":"182","author":[{"given":"Sonia","family":"Amabile","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Pediatric Genomics Discovery Program Yale University School of Medicine  New Haven Connecticut 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