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Constitutive <jats:italic>EED<\/jats:italic> variants have previously been reported in five individuals with an OGID syndrome, eponymously designated Cohen\u2010Gibson syndrome and resembling Weaver syndrome. Here, we report three additional individuals with constitutive <jats:italic>EED<\/jats:italic> variants, identified through exome sequencing of an OGID patient series. We compare the <jats:italic>EED<\/jats:italic> phenotype with that of Weaver syndrome (56 individuals), caused by constitutive <jats:italic>EZH2<\/jats:italic> variants. We conclude that while there is considerable overlap between the <jats:italic>EED<\/jats:italic> and <jats:italic>EZH2<\/jats:italic> phenotypes with both characteristically associated with increased growth and an intellectual disability, individuals with <jats:italic>EED<\/jats:italic> variants more frequently have cardiac problems and cervical spine abnormalities, boys have cryptorchidism and the facial gestalts can usually be distinguished.<\/jats:p>","DOI":"10.1002\/ajmg.a.61066","type":"journal-article","created":{"date-parts":[[2019,2,22]],"date-time":"2019-02-22T04:57:55Z","timestamp":1550811475000},"page":"588-594","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":37,"title":["<i>EED<\/i> and <i>EZH2<\/i> constitutive variants: A study to expand the Cohen\u2010Gibson syndrome phenotype and contrast it with Weaver syndrome"],"prefix":"10.1002","volume":"179","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1736-2430","authenticated-orcid":false,"given":"Sara","family":"Griffiths","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics St George's University of London  London United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chey","family":"Loveday","sequence":"additional","affiliation":[{"name":"Division of Genetics and Epidemiology Institute of Cancer Research  Sutton United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Zachariou","sequence":"additional","affiliation":[{"name":"Division of Clinical Studies Institute of Cancer Research  Sutton United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucy\u2010Ann","family":"Behan","sequence":"additional","affiliation":[{"name":"Department of Endocrinology Beaumont Hospital  Dublin Ireland"},{"name":"Department of Paediatric Growth, Diabetes and Endocrinology Tallaght University Hospital  Dublin Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kate","family":"Chandler","sequence":"additional","affiliation":[{"name":"Manchester Centre for Genomic Medicine Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre  Manchester United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Trevor","family":"Cole","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Birmingham Women's and Children's NHS Foundation Trust  Birmingham United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefano","family":"D'Arrigo","sequence":"additional","affiliation":[{"name":"Developmental Neurology Unit Fondazione IRCCS Istituto Neurologico C. Besta  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Dieckmann","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics Jena University Hospital  Jena Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alison","family":"Foster","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Birmingham Women's and Children's NHS Foundation Trust  Birmingham United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James","family":"Gibney","sequence":"additional","affiliation":[{"name":"Department of Paediatric Growth, Diabetes and Endocrinology Tallaght University Hospital  Dublin Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew","family":"Hunter","sequence":"additional","affiliation":[{"name":"Department of Genetics, Monash Health  Melbourne Australia"},{"name":"Department of Paediatrics Monash University  Melbourne Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Donatella","family":"Milani","sequence":"additional","affiliation":[{"name":"Pediatric Highly Intensive Care Unit Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Pantaleoni","sequence":"additional","affiliation":[{"name":"Developmental Neurology Unit Fondazione IRCCS Istituto Neurologico C. 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