Learn more about GNB1 and connect with other Simons Searchlight families with the resources below.
What is GNB1 encephalopathy?
GNB1 encephalopathy is caused by changes in the GNB1 gene. These changes can keep the gene from working as it should. GNB1 encephalopathy is also called GNB1-E.
GNB1 plays a key role in cell communication and is important for early development, learning and memory, and other cell activities.
Many people who have GNB1 encephalopathy have:
- Intellectual disability
- Low muscle tone, or hypotonia
- Brain disorders
- Movement issues
Do people who have GNB1 encephalopathy look different?
Most people who have GNB1 encephalopathy do not look different. Some people may have:
- larger than average head size, or macrocephaly
- Eyes that are further apart
- Cleft palate
Research Article Summaries