GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder

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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 July 2024

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GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder?

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Advocacy Organizations

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.

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.

Project CASK

VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. ​MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. ​VALUES Collaboration. Transparency. Urgency.

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.

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Clinical Trials

For a list of clinical trials in this disease area, please click here.