This website provides information on patients with mutations in the HNMT gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the HNMT gene is a multisystem disorder characterized by moderate intellectual disability, global regression starting at the age of about 4 years, symptoms form the autism spectrum, restricted active language, challenging behaviors, dysregulation of sleep pattern, intestinal problems.
Absence of dysmorphic features or congenital anomalies.
All individuals with a mutation in the HNMT 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 HNMT gene.
Willem M.A. Verhoeven, MD, PhD, Prof. Em. Psychophramacotherapy, Erasmus University Medical Centre; Vincent van Gogh Institute, Rotterdam; Venray, The Netherlands, email@example.com
Jos I.M. Egger, PhD, Professor of Contextual Neuropsychology, Donders Institute Radboud University; Vincent van Gogh Institute, Nijmegen; Venray, The Netherlands, firstname.lastname@example.org