HNRNPH2

The information for this summary of HNRNPH2-related syndrome comes from research publications. This is not meant to take the place of medical advice.

Click here for our full HNRNPH2 Gene Guide

The online Gene Guide includes more information about HNRNPH2 such as the chance of having another child with this condition, behavior and development concerns linked to HNRNPH2-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.

HNRNPH2-related syndrome is also called Bain type of X-linked syndromic intellectual disability and HNRNPH2-related neurodevelopmental disorder. For this webpage, we will be using the name HNRNPH2-related syndrome to encompass the wide range of variants observed in the people identified.

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What is HNRNPH2-related syndrome?

HNRNPH2-related syndrome happens when there are changes in the HNRNPH2 gene. These changes can keep the gene from working as it should.

The HNRNPH2 gene is located on the X chromosome, which is one of the sex chromosomes.

Key Role

The HNRNPH2 gene plays an important role in processing messenger RNA, also called mRNA, which cells use to make proteins.

Symptoms

have HNRNPH2-related syndrome have:

Developmental delay
Intellectual disability
Seizures
Speech and language difficulties
Autism
Abnormal muscle tone
Movement issues
Attention-deficit/hyperactivity disorder (ADHD)
Aggression
Anxiety
Feeding issues and constipation
Brain changes seen on magnetic resonance imaging (MRI) for some people

How many people have HNRNPH2-related syndrome?

As of 2025, about 67 people with HNRNPH2-related syndrome have been identified in medical research.

Support Resources

Simons Searchlight Community – HNRNPH2 Facebook group
Yellow Brick Road Project Foundation Website – YellowBrickRoadProject.org
Yellow Brick Road Project Facebook– Facebook page
Yellow Brick Road Project Twitter – Twitter page
HNRNP-Related Parent Connect – 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. Check out the GeneReviews for HNRNPH2.

Research Article Summaries

Below, we have summarized research articles about changes in the HNRNPH2 gene. We hope you find this information helpful. The information available about HNRNPH2 is limited, and families and doctors share a critical need for more information. As we learn more from children who have a change in this gene, we expect this 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 HNRNPH2 articles can be found here. You can also visit the Simons Foundation’s SFARI Gene website to see information for researchers about this gene.

Variants in HNRNPH2 on the X chromosome are associated with a neurodevelopmental disorder in females Original research article by J.M. Bain et al. (2016) Read the abstract here and the Simons Searchlight summary here.

Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about HNRNPH2 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.