This website provides information on patients with mutations in the DENND5A gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the DENND5A gene is a rare developmental disorder characterized by global developmental delay, seizures, enlarged ventricles in the brain, reduced corpus callosum volume, hypotonia, and microcephaly. Eating and breathing difficulties, such as difficulty swallowing and recurrent aspiration, as well as gastrointestinal issues, such as chronic constipation, are also common.

Not all individuals with mutations in the DENND5A gene show every feature. Some present with all the above features, while others exhibit a subset of 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 DENND5A gene.

Emily Banks, PhD student, Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montreal, Canada, Emily.banks@mail.mcgill.ca

Peter McPherson, PhD, Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montreal, Canada, peter.mcpherson@mcgill.ca