This website provides information on patients with mutations in the HEATR5B gene, including clinical data, molecular data, management, and research options.
The syndrome caused by mutations in the HEATR5B gene is a multisystem disorder characterized by pontocerebellar hypoplasia, neonatal seizures, severe intellectual disability and motor delay.
Not all individuals with a mutation in the HEATR5B gene may 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 HEATR5B gene.
Martin Breuss, PhD, University of Colorado School of Medicine, Department of Paediatrics, Section of Genetics and Metabolism, Aurora, Colorado, USA, firstname.lastname@example.org