This website provides information on patients suffering HSMR syndrome (OMIM; #616418) with mutations in the CNNM2 gene, including clinical data, molecular data, management and research options.
The hypomagnesemia, seizure, and intellectual disability (HSMR) syndrome caused by mutations in the Cyclin M2 (CNNM2) gene is a multisystem disorder characterized by hypomagnesemia, intellectual disability, and refractory epilepsy. In single cases, obesity, autism spectrum disorder (ASD), motor skills defects, and language/speech delay have been observed.
To date, limited is known regarding the penetrance of the symptoms as the known patient population remains small.
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 HSMR syndrome.
J.H.F. de Baaij, PhD, Assistant Professor, Physiology, Radboud Institute for Molecular Life Sciences, Radboudumc, Nijmegen, the Netherlands, firstname.lastname@example.org
J.G.J. Hoenderop, PhD, Full Professor, Physiology, Radboud Institute for Molecular Life Sciences, Radboudumc, Nijmegen, the Netherlands, email@example.com