This website provides information on patients with mutations in the C12orf4 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the C12orf4 gene is a multisystem disorder characterized by mild to severe intellectual disability, hypotonia, neuropsychiatric symptoms and delayed speech development.

Not all individuals with a mutation in the C12orf4 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 C12orf4 gene.

Irma Järvelä, MD, PhD, Helsinki university, Helsinki, Finland, Irma.jarvela@helsinki.fi