ZIC2

This website provides information on patients with mutations in the ZIC2gene, including clinical data, molecular data, management and research options.

Holoprosencephaly is a disorder caused by mutations in the ZIC2gene. HPE is a congenital defect characterised by defects failure of the cerebral hemispheres to separate correctly. The degree of severity and outcomes of the condition differ depending on the degree of brain anomaly and is commonly characterised by brain and facial abnormalities.

Not all individuals with a mutation in the ZIC2gene 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 ZIC2gene.

Professor Ruth Arkell, PhD, The Australian National University, Canberra, Australia, ruth.arkell@anu.edu.au
Dr. Madeleine Hardy, PhD, The Australian National University, Canberra, Australia, madeleine.hardy@anu.edu.au