This website provides information on patients with mutations in the PRR12 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the PRR12 gene, also known as Neuroocular syndrome (OMIM #619539) is an autosomal dominant condition with a wide clinical spectrum, mainly characterized by neurodevelopmental and ocular abnormalities.

Not all individuals with a mutation in the PRR12 gene have all of the listed features. There is more research needed to understand the real spectrum of this condition.

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better management of patients with mutations in the PRR12 gene.

Weimin Bi, PhD, Department of Molecular and Human Genetics, Houston, USA, wbi@bcm.edu

Tugce B. Balci, MD, Division of Genetics, Department of Paediatrics, Western University / London Health Sciences Centre, London, ON, Canada, tugce.balci@lhsc.on.ca