Living with Intellectual disability, autosomal dominant 6
A genetic condition (GRIN2B-related) with developmental delay and intellectual disability, often with seizures.
Understanding Intellectual disability, autosomal dominant 6
Intellectual disability ranges from mild to severe. Other symptoms may include low muscle tone, seizures, behavior problems including autistic features, abnormal movements, a very small head, and loss of skills. Some children have brain malformations seen on imaging.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Global developmental delay
- Intellectual disability
- Seizures
- Long seizures with no recovery in between (status epilepticus)
- Behavior differences
- Small head (less common)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in GRIN2B are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
GRIN2B Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: GRIN2B Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with GRIN2B Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Variations in the GRIN2B gene, which helps brain cells send signals, cause this condition. It is inherited in an autosomal dominant pattern.
Also known as: autosomal dominant non-syndromic intellectual disability caused by mutation in grin2b; grin2b autosomal dominant non-syndromic intellectual disability; grin2b-related developmental delay, intellectual disability and autism spectrum disorder; intellectual developmental disorder, autosomal dominant 6, with or without seizures; intellectual disability, autosomal dominant type 6; mrd6
Patient organizations
- GRIN2B FoundationIntellectual disability, autosomal dominant 6 · United States
- CureGRINIntellectual disability, autosomal dominant 6 · United States
- CureGRIN FoundationIntellectual disability, autosomal dominant 6 · United States
- Simons SearchlightIntellectual disability, autosomal dominant 6 · United States
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