This website provides information on patients with mutations in the MN1 gene, including clinical data, molecular data, management and research options.

The MN1 C-Terminal Truncation (MCTT) syndrome caused by mutations in the MN1 gene is a multisystem disorder characterized by intellectual disability, severe expressive language delay, and dysmorphic facial features such as midface hypoplasia. Affected individuals also have an atypical form of rhombencephalosynapsis (RES), which is a distinctive brain malformation characterized by partial or complete loss of the cerebellar vermis with fusion of the cerebellar hemispheres. Not all individuals with a mutation in the MN1 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 MN1 gene.

Brian Hon Yin Chung, MD, Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, bhychung@hku.hk

Chris Gordon, PhD, Laboratory of Embryology and Genetics of Human Malformation, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France, chris.gordon@inserm.fr

Christopher Mak, PhD, Department of Paediatrics & Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, ccymak@connect.hku.hk