NAA15

Below is a summary for the NAA15 gene observed in research publications. This is not meant to take the place of medical advice.

Access the Full NAA15 Gene Guide

The online Gene Guide includes more information about NAA15 such as the chance of having another child with this condition, behavior and development concerns linked to NAA15 -related neurodevelopmental syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.

What is NAA15 -related neurodevelopmental syndrome?

NAA15 -related neurodevelopmental syndrome happens when there are changes to the NAA15 gene. These changes can keep the gene from working as it should.

Key Role

The NAA15 gene plays a key role in development. It makes chemical changes to molecules in cells known as proteins. These changes are important for cells to function properly.

Symptoms

Because the NAA15 gene is important in the development, many people who have NAA15 -related neurodevelopmental syndrome have:

Motor delays
Developmental delay
Intellectual disability, mild to severe
Speech impairment
Behavior issues, including autism
Cardiac issues
Seizures
Visual issues that are caused by parts of the brain that control vision

Do people who have NAA15 -related neurodevelopmental syndrome look different?

People with NAA15 -related neurodevelopmental syndrome may look different. Appearance can vary and can include, but are not limited to, these features:

Eyes that are spaced wider than average
Long eyelashes
Thick horizontal eyebrows
Lower than average height and weight

How many people have NAA15 -related neurodevelopmental syndrome?

As of 2023, about 66 people in the world with NAA15 -related neurodevelopmental syndrome have been described in medical research.

Support Resources

Simons Searchlight Community – NAA15 Facebook group
NAA15 Families Together – Facebook group
Geisinger Developmental Brain Disorder Gene Database – NAA15

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 NAA15 .

Research Article Summaries

We currently do not have any article summaries for NAA15, but we add resources to our website as they become available.

The information available about NAA15 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 NAA15 articles can be found here.

You can also visit the Simons Foundation’s SFARI Gene website to see information for researchers about this gene.

Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about NAA15 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 NAA15 families.

Click here to share your family’s story!