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Kabuki syndrome is caused by mutations or deletions of lysine (K)\u2010specific methyltransferase 2D (<jats:italic>KMT2D<\/jats:italic>) and lysine\u2010specific methylase 6A (<jats:italic>KDM6A<\/jats:italic>). We report on a male with developmental delays, cleft palate, craniofacial dysmorphism, hypotonia, and central nervous system anomalies including diminished white matter with thinning of the corpus callosum. Exome sequencing revealed a de novo mutation in <jats:italic>ANKRD11<\/jats:italic>, c.2606_2608delAGA, predicting p.Lys869del and an additional, de novo mutation, c.2353T&gt;C, predicting p.Tyr785His in <jats:italic>KDM1A<\/jats:italic>, a gene not previously associated with a human phenotype. We describe this child as the first report of a deleterious sequence variant in <jats:italic>KDM1A<\/jats:italic> and hypothesize that his phenotype resulted from the combined effect of both mutations. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36450","type":"journal-article","created":{"date-parts":[[2014,5,16]],"date-time":"2014-05-16T17:16:47Z","timestamp":1400260607000},"page":"1744-1749","source":"Crossref","is-referenced-by-count":78,"title":["De novo <i>ANKRD11<\/i> and <i>KDM1A<\/i> gene mutations in a male with features of KBG syndrome and Kabuki syndrome"],"prefix":"10.1002","volume":"164","author":[{"given":"Sanjin","family":"Tunovic","sequence":"first","affiliation":[{"name":"Department of Pediatrics and Institute for Human Genetics University of California, San Francisco San Francisco 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