This website provides information on patients with mutations in the PGAP1 gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the PGAP1 gene is a multisystem disorder characterized by Intellectual disability, epilepsy, severe encephalopathy, spasticity, facial dysmorphism and hypotonia. Not all individuals with a mutation in the PGAP1 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 PGAP1 gene.
Yoshiko Murakami, MD, PhD, Research Institute for Microbial Diseases Osaka University, Suita, Osaka, Japan, email@example.com
Taroh Kinoshita, PhD, Research Institute for Microbial Diseases Osaka University, Suita, Osaka, Japan, firstname.lastname@example.org