This website provides information on patients with mutations in the CCDC186 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the CCDC186 gene is a multisystem disorder characterized by failure to thrive, severe developmental disorder and seizures.
Not all individuals with a mutation in the CCDC186 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 CCDC186 gene.

Wagner, Matias, MD, Institute of Human Genetics, Technical University Munich, Munich, Germany, matias.wagner@mri.tum.de

Brugger, Melanie, MD, Institute of Human Genetics, Technical University Munich, Munich, Germany, melanie.brugger@mri.tum.de

Borggräfe, Ingo, MD, Division of Pediatric Neurology, Ludwig Maximilians University of Munich, Munich, Germany, ingo.borggraefe@med.uni-muenchen.de