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Less common clinical features include ocular anomalies, craniosynostosis, mild intellectual disability, and choanal atresia. These cases may be more difficult to diagnose. In this report, we add 28 MWS patients with molecular confirmation of <jats:italic>ZEB2<\/jats:italic> mutation, including seven with an uncommon presenting feature. Among the \u201cunusual\u201d patients, two patients had clinical features of charge syndrome including choanal atresia, coloboma, cardiac defects, genitourinary anomaly (1\/2), and severe intellectual disability; two patients had craniosynostosis; and three patients had mild intellectual disability. Sixteen patients have previously\u2010unreported mutations in <jats:italic>ZEB2<\/jats:italic>. Genotype\u2010phenotype correlations were suggested in those with mild intellectual disability (two had a novel missense mutation in <jats:italic>ZEB2<\/jats:italic>, one with novel splice site mutation). This report increases the number of reported patients with MWS with unusual features, and is the first report of MWS in children previously thought to have CHARGE syndrome. These patients highlight the importance of facial gestalt in the accurate identification of MWS when less common features are present. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36696","type":"journal-article","created":{"date-parts":[[2014,8,14]],"date-time":"2014-08-14T17:04:52Z","timestamp":1408035892000},"page":"2557-2566","source":"Crossref","is-referenced-by-count":24,"title":["CHARGE\u2010like presentation, craniosynostosis and mild Mowat\u2013Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases"],"prefix":"10.1002","volume":"164","author":[{"given":"Tara L.","family":"Wenger","sequence":"first","affiliation":[{"name":"Division of Craniofacial Medicine Seattle Children's Hospital Seattle WA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margaret","family":"Harr","sequence":"additional","affiliation":[{"name":"Division of Craniofacial Medicine Seattle Children's Hospital Seattle WA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefania","family":"Ricciardi","sequence":"additional","affiliation":[{"name":"Istituto di Genetica Medica Universit\u00e0 Cattolica del Sacro Cuore Policlinico A. 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