This website provides information on patients with mutations in the CLCN4 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the CLCN4 gene is a multisystem disorder characterized by developmental delay/ intellectual disability, seizure disorder, infantile hypotonia, white matter changes in the brain and subtle facial features. Not all individuals with a mutation in the CLCN4 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 CLCN4 gene.

Dr Elizabeth Emma Palmer, Clinical Geneticist, Genetics of Learning Disability Service, New South Wales, Australia. Email: Elizabeth.palmer@hnehealth.nsw.gov.au; Elizabeth.palmer1@health.nsw.gov.au

Dr Vera Kalscheuer, Max Planck Institute for Molecular Genetics, Research Group Development and Disease, Berlin, Germany Email: kalscheu@molgen.mpg.de