KLHL15

This website provides information on patients with mutations in the KLHL15gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the KLHL15gene is a multisystem disorder characterized by:

Delayed psychomotor development, mild to moderate intellectual disability, epilepsy, coarse facial features, short hands, and abnormal genitalia in males. Brain MRI demonstrated polymicrogyric-like appearance of the central areas and parietal lobes, mild enlargement of the lateral ventricles, and underdeveloped white matter in the temporal lobes. Not all individuals with a mutation in the KLHL15gene 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 KLHL15gene.

Dr Helen Stewart, MD, FRCP, Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom, helen.stewart@ouh.nhs.uk