Haploinsufficiency of KMT2D is sufficient to cause Kabuki syndrome and is compatible with life.

To access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked DownloadWe present the first patient described with haploinsufficency of KMT2D leading to Kabuki syndrome. Deletion of KMT2D has been thought to be lethal, but here we describe a patient with KMT2D deletion and classical Kabuki syndrome phenotype.Icelandic Research Fund Louma G. Foundation Wellcome Trus