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We describe a 3\u2010month\u2010old female with seizures, arterial narrowing involving the internal carotid and intracranial arteries and inferior abdominal aorta, and persistently elevated transaminases. Whole exome sequencing demonstrated a novel de novo variant in <jats:italic>RNF213<\/jats:italic>, securing a molecular diagnosis and directing appropriate intervention. This report underscores the role of whole exome sequencing in cases for which a complex and atypical presentation may mask diagnosis. Furthermore, the early and severe presentation in our patient, in conjunction with a novel de novo <jats:italic>RNF213<\/jats:italic> variant, suggests that specific variants in <jats:italic>RNF213<\/jats:italic> may lead to a Mendelian form of disease rather than simply conferring susceptibility to multifactorial disease. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37230","type":"journal-article","created":{"date-parts":[[2015,7,21]],"date-time":"2015-07-21T12:38:55Z","timestamp":1437482335000},"page":"2742-2747","source":"Crossref","is-referenced-by-count":21,"title":["Atypical presentation of moyamoya disease in an infant with a de novo <i>RNF213<\/i> variant"],"prefix":"10.1002","volume":"167","author":[{"given":"Tamar","family":"Harel","sequence":"first","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer 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