This website provides information on patients with mutations in the COPB1 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the COPB1 gene is a multisystem disorder characterized by intellectual disability, microcephaly, cataracts, hypotonia, spasticity, seizures, hypertrichosis, insulin resistance and possibly immunodeficiency.

Not all individuals with a mutation in the COPB1 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 COPB1 gene.

William Macken, MD, Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, United Kingdom, William.macken@nhs.net

Diana Baralle, MD, Faculty of Medicine University of Southampton and Wessex Clinical Genetics Service, Princess Anne Hospital, Human Development and Health, Southampton General Hospital, Southampton, United Kingdom, d.baralle@soton.ac.uk