GRIN1-associated disorders

Title

Other Names:

Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant; NDHMSD; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant; NDHMSD; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive; NDHMSR; GRIN1-Related Neurodevelopmental Disorder; GRIN1-Related Developmental and Epileptic Encephalopathy See More

Symptoms Symptoms

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.

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Medical Terms	Other Names	Learn More: HPO ID
1%-4% of people have these symptoms
Cerebral cortical atrophy	Decrease in size of the outer layer of the brain due to loss of brain cells	0002120
Cerebral visual impairment		0100704
Hypoplasia of the corpus callosum	Underdevelopment of part of brain called corpus callosum	0002079
Microcephaly	Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ]	0000252
Polymicrogyria	More grooves in brain	0002126
Seizure		0001250
Percent of people who have these symptoms is not available through HPO
Absent speech	Absent speech development Lack of language development Lack of speech No speech development No speech or language development Nonverbal [ more ]	0001344
Autosomal dominant inheritance		0000006
Autosomal recessive inheritance		0000007
Cerebral atrophy	Degeneration of cerebrum	0002059
Chorea		0002072
Constipation		0002019
Dyskinesia	Disorder of involuntary muscle movements	0100660
Dystonia		0001332
EEG abnormality		0002353
Epileptic encephalopathy		0200134
Feeding difficulties	Feeding problems Poor feeding [ more ]	0011968
Frontal bossing		0002007
Generalized hypotonia	Decreased muscle tone Low muscle tone [ more ]	0001290
Global developmental delay		0001263
Hyperkinetic movements	Muscle spasms	0002487
Hyperreflexia	Increased reflexes	0001347
Inability to walk		0002540
Infantile onset	Onset in first year of life Onset in infancy [ more ]	0003593
Intellectual disability	Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ]	0001249
Intellectual disability, severe	Early and severe mental retardation Mental retardation, severe Severe mental retardation [ more ]	0010864
Involuntary movements	Involuntary muscle contractions	0004305
Midface retrusion	Decreased size of midface Midface deficiency Underdevelopment of midface [ more ]	0011800
Myoclonus		0001336
Oculogyric crisis		0010553
Poor eye contact		0000817
Scoliosis		0002650
Self-injurious behavior	Self-injurious behaviour	0100716
Severe muscular hypotonia	Severely decreased muscle tone	0006829
Spasticity	Involuntary muscle stiffness, contraction, or spasm	0001257
Strabismus	Cross-eyed Squint Squint eyes [ more ]	0000486

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Last updated: 7/1/2020

Diagnosis Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Organizations Organizations

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

CureGRIN
Telephone: (303) 881-3425
E-mail: info@curegrin.org
Website: https://www.curegrin.org/

Learn More Learn More

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.

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.
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
PubMed is a searchable database of medical literature and lists journal articles that discuss GRIN1-associated disorders. Click on the link to view a sample search on this topic.

Selected Full-Text Journal Articles

Lemke JR, Geider K, Helbig KL, Heyne HO, Schultz H, Hentschel J, et al. Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy. Neurology. 2016 Jun 7; 86(23):2171-8.
Rossi M, Chatron N, Labalme A, Ville D, Carneiro M, Edery P, et al. Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsy. Eur J Hum Genet. 2017 Feb; 25(3):376-380.
Ohba C, Shiina M, Tohyama J, Haginoya K, Lerman-Sagie T, Okamoto N, et al. GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders. Epilepsia. 2015 Jun; 56(6):841-8.
Chen W, Shieh C, Swanger SA, Tankovic A, Au M, McGuire M, et al. GRIN1 mutation associated with intellectual disability alters NMDA receptor trafficking and function. J Hum Genet. 2017 Jun; 62(6);589-597.

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NIH-Supported Research Survey to Examine Impact of COVID-19 on Rare Diseases Community
May 22, 2020
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May 21, 2020

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