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We report the largest <jats:italic>BRWD3<\/jats:italic> patient series to date, comprising 17 males with 12 distinct null variants and 2 partial gene deletions. All patients presented with intellectual disability, which was classified as moderate (65%) or mild (35%). Behavioral issues were present in 75% of patients, including aggressive behavior, attention deficit\/hyperactivity and\/or autistic spectrum disorders. Mean head circumference was +2.8 <jats:italic>SD<\/jats:italic> (2.8 standard deviations above the mean), and mean BMI was +2.0 <jats:italic>SD<\/jats:italic> (in the context of a mean height of +1.3 <jats:italic>SD<\/jats:italic>), indicating a predominant macrocephaly\/obesity phenotype. Shared facial features included a tall chin, prognathism, broad forehead, and prominent supraorbital ridge. Additional features, reported in a minority (&lt;30%) of patients included cryptorchidism, neonatal hypotonia, and small joint hypermobility. This study delineates the clinical features associated with <jats:italic>BRWD3<\/jats:italic> null variants and partial gene deletions, and suggests that <jats:italic>BRWD3<\/jats:italic> should be included in the differential diagnosis of patients with an overgrowth\u2010intellectual disability (OGID) phenotype, particularly in male patients with a mild or moderate intellectual disability associated with macrocephaly and\/or obesity.<\/jats:p>","DOI":"10.1002\/ajmg.c.31750","type":"journal-article","created":{"date-parts":[[2019,11,12]],"date-time":"2019-11-12T11:55:11Z","timestamp":1573559711000},"page":"638-643","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Null variants and deletions in <i>BRWD3<\/i> cause an X\u2010linked syndrome of mild\u2013moderate intellectual disability, macrocephaly, and obesity: A series of 17 patients"],"prefix":"10.1002","volume":"181","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9777-5029","authenticated-orcid":false,"given":"Philip J.","family":"Ostrowski","sequence":"first","affiliation":[{"name":"South West Thames Regional Genetics Service St George's University NHS Foundation Trust  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Zachariou","sequence":"additional","affiliation":[{"name":"Division of Clinical Studies Institute of Cancer Research  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chey","family":"Loveday","sequence":"additional","affiliation":[{"name":"Division of Genetics and Epidemiology Institute of Cancer Research  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diana","family":"Baralle","sequence":"additional","affiliation":[{"name":"Wessex Clinical Genetics Service Princess Anne Hospital  Southampton UK"},{"name":"Faculty of Medicine, Human Development and Health University of Southampton  Southampton UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edward","family":"Blair","sequence":"additional","affiliation":[{"name":"Oxford Centre for Genomic Medicine, ACE Building Nuffield Orthopaedic Centre  Oxford UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sofia","family":"Douzgou","sequence":"additional","affiliation":[{"name":"Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust Manchester Academic Health Sciences Centre  Manchester UK"},{"name":"Division of Evolution and Genomic Sciences, School of Biological Sciences University of Manchester  Manchester UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Field","sequence":"additional","affiliation":[{"name":"Genetics of Learning Disability Service Hunter Genetics  Waratah New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0216-3909","authenticated-orcid":false,"given":"Alison","family":"Foster","sequence":"additional","affiliation":[{"name":"West Midlands Regional Genetics Service Birmingham Women's NHS Foundation Trust  Birmingham UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claire","family":"Kyle","sequence":"additional","affiliation":[{"name":"Manchester Centre for Genomic Medicine, St Mary's Hospital Manchester University Hospitals NHS Foundation Trust  Manchester UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katherine","family":"Lachlan","sequence":"additional","affiliation":[{"name":"Wessex Clinical Genetics Service Princess Anne Hospital  Southampton UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sahar","family":"Mansour","sequence":"additional","affiliation":[{"name":"South West Thames Regional Genetics Service St George's 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