HECW2
The information for this summary of HECW2-related syndrome comes from research publications. This is not meant to take the place of medical advice.
Click here for our HECW2 Gene Guide
The online Gene Guide includes more information about HECW2 such as the chance of having another child with this condition, behavior and development concerns linked to HECW2-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
HECW2-related syndrome is also called neurodevelopmental disorder with hypotonia, seizures, and absent language (NDHSAL). For this webpage, we will be using the name HECW2-related syndrome to encompass the wide range of variants observed in the people identified.
What is HECW2-related syndrome?
HECW2-related syndrome happens when there are changes in the HECW2 gene. These changes can keep the gene from working as it should. The HECW2 gene is also called NEDL2.
Key Role
HECW2 plays a role in the communication between cells in the brain.
Symptoms
Because the HECW2 gene is important for brain activity, many people who have HECW2-related syndrome have:
- Developmental delays
- Intellectual disability
- Low muscle tone
- Autism spectrum disorder
- Speech issues
- Eye problems, such as optic neuropathy, cortical visual impairment, and ocular movement disorders
- Gastrointestinal problems, such as trouble swallowing, problems with digestion, acid reflux, and constipation
- Epilepsy
- Brain changes observed on magnetic resonance imaging (MRI)
How many people have HECW2-related syndrome?
As of 2024, over 38 people with HECW2-related syndrome have been identified in a medical clinic.
Learn more about HECW2 and connect with other Simons Searchlight families with the resources below.
Support Resources
- Simons Searchlight Community – HECW2 Facebook group
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 HECW2.
Research Article Summaries
We currently do not have any article summaries for HECW2, but we add resources to our website as they become available.
The information available about HECW2 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 HECW2 articles can be found here.
Research Opportunities
Simons Searchlight
Help the Simons Searchlight team learn more about HECW2 genetic changes by taking part in our research. You can learn more about the project and sign up here.
External Research Opportunity: FaceMatch
FaceMatch is a platform that helps parents and doctors contribute to an international secure image database of both undiagnosed and diagnosed children across the globe. *This study is not affiliated with Simons Searchlight. Learn more about FaceMatch.