Below is a summary for the IQSEC2 gene observed in research publications. This is not meant to take the place of medical advice. Click HERE for the full gene guide, which includes more information, such as chance of having another child with this condition, or specialists to consider for people with this condition.
What is IQSEC2 -related syndrome?
IQSEC2 -related syndrome happens when there are changes to the IQSEC2 gene. These changes can keep the gene from working as it should.
The IQSEC2 gene plays a key role in brain cell growth and communication between brain cells.
Because the IQSEC2 gene is important in the development and function of brain cells, many people who have IQSEC2 -related syndrome have:
- Intellectual disability
Do people who have IQSEC2 -related syndrome look different?
People who have IQSEC2 -related syndrome may look different. Appearance can vary and can include some but not all of these features:
- Small head
- Changes in head shape
How many people have IQSEC2 -related syndrome?
As of 2020, more than 130 people in the world with changes in the IQSEC2 gene had been described in the medical literature.
Symptoms of IQSEC2 -related syndrome vary based on sex and whether the gene change is inherited or new.
Keep reading below to learn more!
In males with inherited IQSEC2 changes:
30% have seizures
28% have autism or features of autism
20% have speech issues
In males with new, or de novo, IQSEC2 changes:
90% have seizures
87% have speech issues
34% have autism or features of autism
In females with inherited IQSEC2 changes:
27% have seizures
22% have speech issues
9% have autism or features of autism
In females with new, or de novo, IQSEC2 changes:
72% have seizures
66% have speech issues
36% have autism or features of autism
Research Article Summaries