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Here, we report on a child with a distinctive constellation of clinical features including macrocerebellum, epilepsy, apparent intellectual disability, dysautonomia, gut malrotation, and poor gut motility. Oligonucleotide chromosome microarray analysis identified a 16q24.1\u2013q24.2 deletion that included four OMIM genes (<jats:italic>FBXO31<\/jats:italic>, <jats:italic>MAP1LC3B<\/jats:italic>, <jats:italic>JPH3<\/jats:italic>, and <jats:italic>SLC7A5<\/jats:italic>). Review of prior studies describing individuals with similar or overlapping16q24.1\u2013q24.2 deletions identified no other reports of macrocerebellum. These observations highlight a potential genetic cause of this rare disorder and raise the possibility that one or more gene(s) in the 16q24.1\u2013q24.2 interval regulate cerebellar development. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36569","type":"journal-article","created":{"date-parts":[[2014,4,9]],"date-time":"2014-04-09T21:17:16Z","timestamp":1397078236000},"page":"2062-2068","source":"Crossref","is-referenced-by-count":14,"title":["Macrocerebellum, epilepsy, intellectual disability, and gut malrotation in a child with a 16q24.1\u2013q24.2 contiguous gene deletion"],"prefix":"10.1002","volume":"164","author":[{"given":"Andrea H.","family":"Seeley","sequence":"first","affiliation":[{"name":"Department of Pediatrics and Communicable Diseases University of Michigan Medical School Ann Arbor Michigan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mark A.","family":"Durham","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Communicable Diseases University of Michigan Medical School Ann Arbor Michigan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mark A.","family":"Micale","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine Beaumont Health System Royal Oak Michigan"},{"name":"Oakland University William Beaumont School of Medicine Rochester Michigan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jeffrey","family":"Wesolowski","sequence":"additional","affiliation":[{"name":"Department of Radiology University of Michigan Medical School Ann Arbor Michigan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bradley R.","family":"Foerster","sequence":"additional","affiliation":[{"name":"Department of Radiology University of Michigan Medical School Ann Arbor Michigan"},{"name":"Ann Arbor VA Healthcare System University of Michigan Medical School Ann Arbor Michigan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0197-3811","authenticated-orcid":false,"given":"Donna M.","family":"Martin","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Communicable Diseases University of Michigan Medical School Ann Arbor Michigan"},{"name":"Department of Human Genetics University of Michigan Medical School Ann Arbor Michigan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,4,9]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1177\/088307389701200605"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/cercor\/bhr018"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35229"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/dvdy.21392"},{"key":"e_1_2_5_6_1","first-page":"296","article-title":"Surgical management of cerebellar tonsillar herniation in three patients with macrocephaly\u2010cutis marmorata telangiectatica congenita. 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