Below is a summary for the HECW2 gene observed in the following research publication:
This is not meant to take the place of medical advice.
What is HECW2-related syndrome?
HECW2-related syndrome happens when someone has a change in the HECW2 gene. This gene is also called NEDL2. Changes in the HECW2 gene can cause problems in the communication between brain cells.
The HECW2 gene contains the instructions for making the HECW2 protein. This protein interacts with other proteins that are important for brain development.
Most people who have HECW2-related syndrome have:
- Developmental delays (100 percent)
- Intellectual disability (100 percent)
- Low muscle tone (100 percent)
- Autism spectrum disorder
- Eye problems, such as optic neuropathy, cortical visual impairment, and ocular movement disorders (84 percent)
Other common symptoms include:
- Gastrointestinal problems, such as trouble swallowing, problems with digestion, acid reflux, and constipation
Do people who have HECW2-related syndrome look different?
People who have HECW2-related syndrome may look different. Appearance can vary and may include one or more of these features:
- Forehead that sticks out
- Nasal bridge that sticks out
- Deep-set eyes
- Concave-shaped face
- Roof of mouth with a high arch
Seizures are reported in about 70 percent of people who have HECW2-related syndrome
Research Article Summaries