Below is a summary for the NEXMIF gene observed in research publications. This is not meant to take the place of medical advice.
What is NEXMIF-related syndrome?
NEXMIF-related syndrome happens when there are changes to the NEXMIF gene. These changes can keep the gene from working as it should. The NEXMIF gene was previously called KIAA2022.
The NEXMIF gene plays a key role in brain cell growth.
Because the NEXMIF gene is important in the development and function of brain cells, many people who have NEXMIF-related syndrome have:
- Intellectual disability
Do people who have NEXMIF-related syndrome look different?
People who have NEXMIF-related syndrome may look a little bit different. Hooded eyelids are the most common feature.
How many people have NEXMIF-related syndrome?
As of 2021, doctors had described about 90 people in the world with changes in the NEXMIF gene. The first case of NEXMIF-related syndrome was described in 2014. Scientists expect to find more people who have the syndrome as access to genetic testing improves.
Almost everyone studied to date has a developmental delay or intellectual disability (86/87 or 99%). Developmental issues tend to be worse in males.
Language issues are common. In males, more than one-half did not speak (57%). One-quarter used single words (25%). Fewer than one-fifth used simple sentences (17%). In females, one-tenth did not speak (10%). Fewer than one-fifth used single words (17%). Almost three-quarters used simple sentences (73%).
Three-quarters of males have autism or symptoms of autism (75%).
Fewer than one-half of females have autism or symptoms of autism (46%).
More than three-quarters of males have behavior issues (79%). Two-thirds of females have behavior issues (67%).
Learn more about the NEXMIF gene and connect with other Simons Searchlight families with the resources below:
Research Article Summaries