This website provides information on patients with mutations in the ZDHHC9 gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the ZDHHC9 gene is a brain-related developmental disorder characterized by delayed developmental milestones, speech and communication problems, and learning difficulties or intellectual disability. A high proportion of individuals experience epileptic seizures during childhood and adolescence, although these are usually mild and easily treated. The severity of problems varies between individuals with ZDHHC9 variants, even within the same family. However the majority of individuals reported to date have mild to moderate intellectual disability, and some live completely independently as adults. Adult mental health problems may be a feature, and have been incompletely documented to date.
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 ZDHHC9 gene.
Dr Kate Baker, MD, PhD, University of Cambridge, Cambridge, UK, firstname.lastname@example.org
Dr Anna Kolesnik-Taylor, PhD, University of Cambridge, Cambridge, UK, email@example.com