NEXMIF

The information for this summary of NEXMIF-related syndrome comes from research publications. This is not meant to take the place of medical advice.

Click here for our full NEXMIF Gene Guide

The online Gene Guide includes more information about NEXMIF such as the chance of having another child with this condition, behavior and development concerns linked to NEXMIF-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.

NEXMIF-related syndrome is also called intellectual developmental disorder, X-linked 98. For this webpage, we will be using the name NEXMIF-related syndrome to encompass the wide range of variants observed in the people identified.

What is NEXMIF-related syndrome?

NEXMIF-related syndrome happens when there are changes in the NEXMIF gene. These changes can keep the gene from working as it should. The NEXMIF gene was previously called KIAA2022.

Key Role

The NEXMIF gene plays a key role in brain cell growth.

Symptoms

Because the NEXMIF gene is important for brain activity, many people who have NEXMIF-related syndrome have:

Developmental delay
Intellectual disability
Language delay
Seizures
Movement issues, such as ataxia or unstable walking
Autism
Attention-deficit/hyperactivity disorder (ADHD)
Gastroesophageal reflux disease (GERD)
Smaller than average head size, also called microcephaly
Lower than average muscle tone

How many people have NEXMIF-related syndrome?

As of 2024, about 189 people with NEXMIF-related syndrome have been identified in a medical clinic. 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.

Learn more about the NEXMIF gene and connect with other Simons Searchlight families with the resources below:

Support Resources

Simons Searchlight Community – NEXMIF Facebook group
Unione Italiana Nexmif – www.nexmif.it/en
NEXMIF ITALIA odv – https://nexmif.org
XLID98 Foundation – https://www.xlid98.org/
XLID98 / KIAA2022 / NEXMIF / MRX98 Facebook Group- https://www.facebook.com/groups/1737543686499443/

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 are currently no GeneReviews for NEXMIF.

Research Article Summaries

We currently do not have any article summaries for NEXMIF, but we add resources to our website as they become available.

The information available about NEXMIF 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.

de Lange IM. et al. Journal of Medical Genetics, 53, 850-858, (2016). De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy, www.ncbi.nlm.nih.gov/pmc/articles/PMC5264224.
Stamberger H. et al. Genetics in Medicine, Epub ahead of print, (2020). NEXMIF encephalopathy: An X-linked disorder with male and female phenotypic patterns, www.nature.com/articles/s41436-020-00988-9.

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 NEXMIF articles can be found here.

You can also visit the Simons Foundation’s SFARI Gene website to see information for researchers about this gene.

Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about NEXMIF 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.

Family Stories

We do not currently have any stories from NEXMIF families.

Click here to share your family’s story!