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

The syndrome caused by mutations in the PREPL gene is a multisystem disorder characterized by severe hypotonia and feeding problems in the neonatal period. During infancy, hypotonia and weakness gradually improve, and during childhood increased food intake often results in overweight. Intelligence often is below average. Growth hormone deficiency is frequently observed.

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

Luc Régal, MD, Pediatric Neurology and Metabolism, UZ Brussels and Laboratory of Biochemical Neuro-endocrinology, KU Leuven, Brussels, Belgium, Luc.regal@uzbrussel.be
John Creemers, PhD, Laboratory of Biochemical Neuro-endocrinology, KU Leuven, Leuven, Belgium, John.creemers@kuleuven.be