National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

GRIN2B related syndrome


Other Names:
GRIN2B-related intellectual disability; Autosomal dominant intellectual disability-6; GRIN2B encephalopathy; GRIN2B-related intellectual disability; Autosomal dominant intellectual disability-6; GRIN2B encephalopathy; Intellectual disability, autosomal dominant 6, with or without seizures; GRIN2B-related neurodevelopmental disorder See More
GRIN2B related syndrome is a genetic disorder that causes developmental delay and intellectual disability. Intellectual disability ranges from mild to severe. Other symptoms may include low muscle tone (hypotonia), seizures, behavior problems including autistic features, abnormal movements, a very small head (microcephaly), and developmental regression.[1][2][3] Some children have brain malformations that can be seen in brain imaging exams.[1]  This disorder is caused by variations (mutations) in the GRIN2B gene, which plays a role in the transmission of signals in the brain. Inheritance is autosomal dominant. Treatment depends on the symptoms seen in each person. In some cases, the medication memantine was used with good results, but more studies are needed to know if it is broadly effective.[1]
Last updated: 2/17/2018

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 13 |
Medical Terms Other Names
Learn More:
HPO ID
1%-4% of people have these symptoms
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] 		0000252
Seizure 0001250
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance 0000006
Behavioral abnormality
Behavioral changes
Behavioral disorders
Behavioral disturbances
Behavioral problems
Behavioral/psychiatric abnormalities
Behavioural/Psychiatric abnormality
Psychiatric disorders
Psychiatric disturbances
[ more ] 		0000708
Chorea 0002072
Dyskinesia
Disorder of involuntary muscle movements
0100660
Dystonia 0001332
EEG abnormality 0002353
Generalized hypotonia
Decreased muscle tone
Low muscle tone
[ more ] 		0001290
Global developmental delay 0001263
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] 		0001249
Spasticity
Involuntary muscle stiffness, contraction, or spasm
0001257
Variable expressivity 0003828
Showing of 13 |
Last updated: 7/1/2020

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Patient Registry

  • A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with GRIN2B related syndrome. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

    Registries for GRIN2B related syndrome:
    Simons SearchLight
     

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • The GRIN2B Foundation provides answers to common questions about GRIN2B related syndrome. Click on the link to visit their website.
  • Unique is a source of information and support for families and individuals affected by rare chromosome disorders. Click on the link to view information about GRIN2B related syndrome.

In-Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • PubMed is a searchable database of medical literature and lists journal articles that discuss GRIN2B related syndrome. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  1. Adams DR, Yuan H, Holyoak T, et al. Three Rare Diseases in One Sib Pair: RAI1, PCK1, GRIN2B Mutations Associated with Smith-Magenis Syndrome, Cytosolic PEPCK Deficiency and NMDA Receptor Glutamate Insensitivity. Molecular genetics and metabolism. 2014.; 113 (3):161-170. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4219933/.
  2. Platzer K, Yuan H, Schütz H, et al. GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects. Journal of medical genetics. 2017; 54(7):460-470. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5656050/.
  3. GRIN2B related syndrome. UNIQUE. 2016; http://www.rarechromo.org/information/Single%20Gene%20Disorders/GRIN2B%20related%20syndrome%20FTNW.pdf.