This website provides information on patients with a mutation in the PACS1 gene, including clinical data, molecular data, management and research options.
PACS1-related syndrome, caused by mutations in the PACS1 gene, is a multisystem disorder characterized by developmental delay / intellectual disability and recognizable facial dysmorphisms. Congenital anomalies, behavioral problems, epilepsy and oral aversion may also be observed, but do not occur in all individuals with a pathogenic mutation in the PACS1 gene.
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 a mutation in the PACS1 gene.
Han G. Brunner, MD, PhD, Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands, Han.Brunner@radboudumc.nl
Janneke H.M. Schuurs-Hoeijmakers, MD, PhD, Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands, Janneke.Schuurs-Hoeijmakers@radboudumc.nl