EIF3F

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.

Key Role

The EIF3F gene helps to make proteins, which carry out many important jobs in the cells of the body.

Symptoms

Because the EIF3F gene is important in the development and function of brain cells, many people who have EIF3F-related syndrome have:

  • Intellectual disability
  • Seizures

Do people who have EIF3F-related syndrome look different?

People who have EIF3F-related syndrome do not look very different.

Learning

9 out of 9 had an intellectual disability.

Behavior

3 out of 9 had behavior challenges.

Brain

6 out of 9 had seizures.

Learn more about the EIF3F gene and connect with other Simons Searchlight families with the resources below:

+

Support Resources

+

GeneReviews

GeneReviews are a great resource to bring to your child’s clinicians. These publications provide a summary of current research on genetic conditions and information on ongoing care.

There is currently no GeneReviews for EIF3F.

+

Research Article Summaries

We currently do not have any article summaries for EIF3F, but we add resources to our website as they become available.

The information available about EIF3F is limited, and families and doctors share a critical need for more information. As we learn more from children who have this gene change, we expect our list of resources and information to grow.

Full versions of published research articles can be found on PubMed. PubMed is a National Institutes of Health (NIH) online database that is free. It has a collection of both medical and scientific research articles. A PubMed search for EIF3F articles can be found here.

+

Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about EIF3F genetic changes by taking part in our research. You can learn more about the project and sign up here.

+

Family Stories

We do not currently have any stories from EIF3F families.

Click here to share your family’s story!