UnderstandingNAA15
NAA15 is a rare genetic disorder affecting neurodevelopment. Most cases arise from de novo mutations, though inherited cases have also been reported. Diagnosis requires genetic testing — including Whole Exome Sequencing (WES), Whole Genome Sequencing (WGS), or targeted gene panels — and early diagnosis changes everything.
66 Cases
Document around the world as of April 2026
~100%
Have Intellectual Disability
15+
Countries in Landmark Study
WES/WGS
Genetic Testing Required
No family shouldface NAA15 alone.
We exist to connect families, accelerate research, and ensure every child with NAA15 receives an accurate diagnosis as early as possible. Because when you know what you're dealing with, you can fight it.
NAA15-related intellectual disability is caused by Pathogenic Variants in the NAA15 gene on Chromosome 4q22.1. Many cases arise as De Novo Mutations — meaning they occur spontaneously and are not inherited from either parent — though inherited cases have also been documented. This makes genetic testing not just important, but essential.
“Specialists advise that therapies for NAA15-related syndrome should begin as early as possible, ideally before a child begins school.”
Simons Searchlight Gene Guide
NAA15-Related Syndrome (last updated 2024)
simonssearchlight.org/gene-guide/naa15What is NAA15?
NAA15 encodes a subunit of the NatA N-terminal acetyltransferase complex. Variants in this gene cause a rare neurodevelopmental syndrome first described in 2018.
Mostly De Novo Mutations
Most NAA15 cases arise from spontaneous (de novo) mutations not inherited from either parent, though inherited cases have been reported. Genetic testing is essential to confirm the diagnosis.
Neurodevelopmental Impact
NAA15 affects the NatA complex responsible for N-terminal acetylation of proteins — a process critical for normal brain development.
Variable Presentation
Symptoms range from mild to severe intellectual disability, autism spectrum features, hypotonia, seizures, and behavioral challenges.
Underdiagnosed
Due to its rarity and variable presentation, NAA15 is significantly underdiagnosed. Many families wait years before receiving a correct diagnosis.
A Diagnosis That Changes Everything
For most families, the journey to an NAA15 diagnosis is long and exhausting. Children are often misdiagnosed with non-specific Intellectual Disability (ID), autism, or developmental delay before the underlying genetic cause is identified. The path to answers can span years, involving countless specialist visits, inconclusive tests, and the emotional weight of not knowing.
When a diagnosis is finally made — typically through Whole Exome Sequencing (WES), Whole Genome Sequencing (WGS), or Targeted Gene Panels — it opens doors to targeted therapies, appropriate educational support, and connection with a community that truly understands.
Early intervention remains one of the most powerful tools available. Speech therapy, occupational therapy, physical therapy, and behavioral support can all make a meaningful difference in a child's development and quality of life. Families who receive a clear diagnosis are better equipped to advocate for the services and accommodations their child needs — and to connect with researchers working toward better treatments.
Learn More About NAA15Genetic Testing is Requiredto Confirm an NAA15 Diagnosis
NAA15 can be identified through several forms of genetic testing, including Whole Exome Sequencing (WES), Whole Genome Sequencing (WGS), and Targeted Gene Panels. Standard blood tests, MRI scans, and EEGs alone cannot confirm this diagnosis.
Trio-WES — testing the child and both biological parents simultaneously — is widely considered the gold standard, as it confirms whether the variant arose De Novo Mutation (spontaneously) and is not inherited from either parent.
Request Genetic Testing
Ask your neurologist or geneticist about Whole Exome Sequencing (WES), Whole Genome Sequencing (WGS), or a targeted gene panel.
Trio Testing
Trio-WES tests the child and both biological parents simultaneously for the most accurate results.
Get Answers
A confirmed NAA15 variant provides a definitive diagnosis and opens the door to targeted support.
Everything you need,in one place.
WES Testing Guide for Families
Step-by-step guide to requesting and understanding Whole Exome Sequencing results.
NAA15 Family Network
Connect with other families navigating the NAA15 journey. You are not alone.
Published Research Papers
Access peer-reviewed studies and case reports on NAA15 from leading genetics journals.
Navigating the Diagnosis
Practical guides for parents: IEPs, therapy options, insurance, and advocacy tips.
You are not alonein this journey.
Hundreds of families around the world are navigating NAA15 together. Join our community to share experiences, find support, and stay connected with the latest research.