Novel Variants in <i>KMT2C</i> Further Support a Neurodevelopmental Disorder Distinct From Kleefstra and Kabuki Syndromes

After detailed phenotype analysis and by comparison with previous reports, we found that our patients have very similar phenotypes as described before and thus further extend the list of KMT2C causal variants. Therefore, we believe that they fit into these previously described phenotypes of KMT2C-related Kleefstra syndrome 2 as well.