KBG syndrome is a rare, autosomal dominant disorder caused by mutations or 
deletions leading to haploinsufficiency for the Ankrin Repeating 
Domain-Containing protein 11 (ANKRD11) at chromosome 16q24.3. Kabuki syndrome is 
caused by mutations or deletions of lysine (K)-specific methyltransferase 2D 
(KMT2D) and lysine-specific methylase 6A (KDM6A). 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 ANKRD11, 
c.2606_2608delAGA, predicting p.Lys869del and an additional, de novo mutation, 
c.2353T>C, predicting p.Tyr785His in KDM1A, a gene not previously associated 
with a human phenotype. We describe this child as the first report of a 
deleterious sequence variant in KDM1A and hypothesize that his phenotype 
resulted from the combined effect of both mutations.