This website provides information on individuals with pathogenic variants in GRIN2D, including clinical data, molecular data, management and research options.
GRIN2D-related neurodevelopmental disorder is characterized by moderate-to-profound developmental delay/intellectual disability (DD/ID) in all affected individuals. Other common manifestations are epilepsy, muscular hypotonia, movement disorders, spasticity, feeding difficulties, and behavior problems.
This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of individuals with pathogenic variants in GRIN2D.
We invite clinicians who have identified a pathogenic variant in GRIN2D in an individual or parents of a child with a pathogenic variant in GRIN2D to submit their data to the registry. More information regarding the registration, general information, variant analysis and parent organisations can be found on our GRIN Portal: http://grin-portal.broadinstitute.org/.
Johannes Lemke, MD Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany, Johannes.Lemke@medizin.uni-leipzig.de
Ilona Krey, MD, Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany, Ilona.Krey@medizin.uni-leipzig.de