GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
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 2024
Newly diagnosed with
GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
CureGRIN Foundation
CureGRIN Foundation is dedicated to improving the lives of people around the world with GRI Disorder, and their families, through research, education and connectivity. We work closely with scientists and the medical community to drive patient-centered research that will lead to treatments and cures.
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
FamilieSCN2A Foundation
"Families" is part of our name for a reason. Rare and devastating, SCN2A-related disorders affect the entire family. Our VISION is a world with effective treatments and cures for all SCN2A-related disorders. Our MISSION is to accelerate research, build community and advocate to improve the lives of those affected by SCN2A-related disorders around the world.
GRIN Europe
GRIN Europe is a valuable resource for parents navigating life with a GRIN child, playing an important role in expanding knowledge about GRIN disorders and increasing visibility globally. We support research projects, facilitate clinical trials, and foster essential connections between researchers, clinicians, and parents. GRIN Europe has years of experience organizing conferences.
GRIN2B Foundation
GRIN2B Foundation is a parent-run organization dedicated to furthering research on the GRIN2B gene and providing support and education to the small, but growing community of individuals and families impacted by a GRIN2B diagnosis.
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.
Moonshots for Unicorns
Curing single-gene disorders
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
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.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
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
Clinical Trials
For a list of clinical trials in this disease area, please click here.