MOGS

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

The syndrome caused by biallelic pathogenic variants in the MOGSgene is a severe multisystem disorder characterized by early onset developmental delay and hypotonia, epilepsy, brain MRI changes such as thin corpus callosum, dystonia, hypogammaglobulinemia, dysmorphic features, liver, skeletal and cardiac involvement.

Not all individuals with pathogenic variants in the MOGSgene 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 MOGSgene.

Silvia Radenkovic, PhD, Biochemical geneticist fellow, UMC Utrecht, Netherlands, s.radenkovic@umcutrecht.nl
Professor Eva Morava, MD, PhD, Ichan School of Medicine at Mount Sinai, New York City, NY, USA, eva.morava@mssm.edu