This website provides information on patients with mutations in the Chromosome 18 Open Reading Frame 32 (C18orf32) gene, including clinical data, molecular data, management, and research options.
The syndrome caused by mutations in the C18orf32 gene is a novel neurodevelopmental disorder called Glycosylphosphatidylinositol Biosynthesis Defect 25 (GPIBD25) and is a multisystem disorder characterized by global developmental delay, hypotonia, and contractures.
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 C18orf32 gene.
Philippe Campeau, MD, Principal Investigator, CHU Sainte Justine, Mother and Child University Hospital, Montreal, Canada, firstname.lastname@example.org
Smrithi Raghuram Salian, PhD, Post-doc, CHU Sainte Justine, Mother and Child University Hospital, Montreal, Canada, email@example.com
In collaboration with Drs Yoshiko Murakami, Taroh Kinoshita, Katta M Girisha and Morihisa Fujita