Below is a summary for the EIF3F 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 EIF3F-related syndrome?
EIF3F-related syndrome happens when there are changes to the EIF3F gene. These changes can keep the gene from working as it should.
EIF3F-related syndrome is also called EIF3F-related Neurodevelopmental Disorder.
The EIF3F gene helps to make proteins, which carry out many important jobs in the cells of the body.
Because the EIF3F gene is important in the development and function of brain cells, many people who have EIF3F-related syndrome have:
- Intellectual disability
Do people who have EIF3F-related syndrome look different?
People who have EIF3F-related syndrome do not look very different.
9 out of 9 had an intellectual disability.
3 out of 9 had behavior challenges.
6 out of 9 had seizures.
Research Article Summaries