This website provides information on patients with mutations in the Lysine Acetyltransferase 5 (KAT5) gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the KAT5 gene is a multisystem disorder called Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities (NEDFASB) characterized by global developmental delay, intellectual disability, behavioral anomalies, seizures, and sleep disturbance.
Not all individuals with a mutation in the KAT5 gene have these features.
This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the KAT5 gene.
Philippe Campeau, MD, CHU Sainte-Justine Research Center, University of Montreal, Montreal, Canada, firstname.lastname@example.org
Coralie Michaud, MD, University of Montreal, Montreal, Canada, email@example.com