Synonyms: GRIN2B-Related Neurodevelopmental Disorder
A rare genetic syndromic intellectual disability characterized by infantile or childhood onset of mild to profound developmental delay and intellectual disability in all affected individuals as well as variable occurrence of epilepsy autism spectrum disorder / behavioral issues microcephaly muscle tone abnormalities such as hypotonia and spasticity dystonic dyskinetic or choreiform movement disorder and cortical visual impairment. Brain MRI may reveal abnormal cortical development hypoplastic corpus callosum enlarged/dysplastic basal ganglia and hippocampal dysplasia.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2026
Newly diagnosed with
GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder?
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Advocacy Organizations
CureGRIN Foundation
CureGRIN Foundation is dedicated to improving the lives of people around the world with GRI Disorders (GRIA, GRID, GRIK, and GRIN) and their families through research, education, and support. We work closely with scientists and the medical community to drive patient-centered research that will lead to treatments and cures.
FamilieSCN2A Foundation
Our MISSION is to accelerate research, build community and advocate to improve the lives of those affected by SCN2A-related disorders around the world.
GRI-UK
Our mission is to raise awareness of GRI gene disorders, to advocate for research, to support and empower affected individuals and families, and to build a community where everyone feels welcome and valued.
GRIN Europe
Our mission is to connect GRIN patients and similar rare genetic patient groups, facilitate research, and advocate for improved clinical care, ensuring equal access to treatments and specialized support. We collaborate with leading researchers, clinicians, and industry partners to push forward clinical trials, cross-border collaborations, and AI-assisted research initiatives.
GRIN2B Foundation
The GRIN2B Foundation supports individuals and families affected by GRIN2B-related neurodevelopmental disorders through awareness, education, research, and advocacy. We are committed to building community and accelerating scientific understanding to improve outcomes for all those impacted.
Helping Swans Co.
Promoting disability awareness and inclusion through education and support services. They highlight rare and undiagnosed diseases and provide initiatives in schools, hospitals, and other organizations to create a more inclusive world. The organization was founded by a disabled Latina mother of a rare child with autism, with a focus on diversity and underrepresented communities.
KIF1A.ORG
KIF1A.ORG is a global community dedicated to improving the lives of those affected by KIF1A Associated Neurological Disorder (KAND) and accelerating research to find a cure.
MAST Genes Research Foundation
Connecting families and fueling research into microtubule-associated serine/threonine kinase (MAST) genetic mutations to improve the quality of life and develop therapies to support affected patients and families.
SCN2A Foundation
The SCN2A Foundation is a global initiative dedicated towards accelerating research and treatment for SCN2A. We plan to achieve this by building collaborative networks among the global research community, organizing resources, and strategically investing in highly focused research directed towards therapeutic development.
TRND Network
The TRND Network is dedicated to supporting patients and their loved ones by providing advocacy and support, advancing research, and creating collaboration between researchers and patients.
The SHANK2 Foundation
To improve the quality of life for individuals affected by SHANK2 disorders
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Clinical Trials
For a list of clinical trials in this disease area, please click here.