Below is a summary for the ADNP gene observed in research publications. This is not meant to take the place of medical advice.
The online Gene Guide includes more information about ADNP such as the chance of having another child with this condition, behavior and development concerns linked to ADNP -related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
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View all reports below by clicking on “Previous Registry Reports” at the bottom of this page.
What is ADNP -related syndrome or Helsmoortel-Van der Aa Syndrome?
ADNP -related syndrome happens when there are changes to the ADNP gene. These changes can keep the gene from working as it should. The syndrome is also known as Helsmoortel-Van der Aa syndrome.
The ADNP gene plays a key role in the brain and body, including the heart and intestines.
Because the ADNP gene is important in the development and function of brain cells, many people who have ADNP -related syndrome have:
- Developmental delay, or intellectual disability, or both
- Speech and language delay
- Autism or symptoms of autism
- Other behavior issues
- Distinctive facial features Intestinal problems or difficulty eating
- Heart problems
- Vision problems
- Sleep difficulties
Research Article Summaries
Previous Registry Reports