Below is a summary for the GRIN1 gene observed in research publications. This is not meant to take the place of medical advice. Click HERE for the full gene guide, which includes more information, such as chance of having another child with this condition, or specialists to consider for people with this condition.
What is GRIN1 -related syndrome?
GRIN1 -related syndrome happens when there are changes to the GRIN1
gene. These changes can keep the gene from working as it should.
The GRIN1 gene plays a key role in communication between brain cells,
memory, and learning.
Because the GRIN1 gene is important in the development and function of
brain cells, many people who have GRIN1 -related syndrome have:
- Intellectual disability
- Developmental delay
- Low muscle tone
- Movement disorders
Do people who have GRIN1 -related syndrome look different?
People who have GRIN1 -related syndrome do not look different.
How many people have GRIN1 -related syndrome?
As of 2021, about 72 people in the world with changes in the GRIN1 gene
had been described in medical research.
Everyone studied so far has a developmental delay and intellectual disability with 71% having a severe intellectual disability. Additionally, among these people, intellectual disability is mild in 5 percent, moderate in 7 percent and very severe in 17 percent.
Most are unable to walk. In one study that looked at 22 people, 1 person could walk.
Of those studied so far, about one-half do not speak.
Research Article Summaries