This website provides information on patients who carry a duplication of the MECP2 gene, including clinical data, molecular data, management and research options.
The syndrome caused by duplication of the MECP2 gene is a multisystem disorder characterized by early infantile hypotonia, delayed psychomotor development resulting in severe to profound intellectual disability (ID) with absent to very limited speech and neurological symptoms, including abnormal gait, epilepsy and spasticity. In the majority of patients, recurrent infections, especially of the respiratory tract occur and often gastro-intestinal motility problems are present.
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 a duplication of the MECP2 gene.
Hilde Van Esch, MD, PhD, Clinical Geneticist, Center for Human Genetics, KULeuven, Leuven, Belgium, Hilde.Vanesch@med.kuleuven.be