Below is a summary for the HNRNPH2 gene observed in research publications. This is not meant to take the place of medical advice.
This latest report includes updated information about Simons Searchlight participants with HNRNPH2-related syndrome using insights by families like yours. This report features a special spotlight on behavioral and emotional concerns in children using results from the Child Behavior Checklist (CBCL).
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View all reports below by clicking on “Previous Registry Reports” at the bottom of this page.
What is HNRNPH2-related neurodevelopmental disorder?
HNRNPH2-related neurodevelopmental disorder happens when there are changes in the HNRNPH2 gene. These changes can keep the gene from working as it should.
HNRNPH2-related neurodevelopmental disorder is also called Bain type of X-linked syndromic intellectual disability.
The HNRNPH2 gene plays an important role in processing messenger RNA, or mRNA, which cells use to make proteins.
Because the HNRNPH2 gene is important for many parts of the body, some people may have:
- Intellectual disability
- Speech and language difficulties
- Abnormal muscle tone
- Movement issues
- Attention deficit hyperactivity disorder, or ADHD
- Feeding issues and constipation
- Brain changes seen on magnetic resonance imaging (MRI) for some people
Do people who have HNRNPH2-related neurodevelopmental disorder look different?
People who have HNRNPH2-related neurodevelopmental disorder may look different. Appearance can vary and can include some but not all of these features:
- Short height
- Difficulty gaining weight
- Smaller than average head size
- Wide-set eyes
- Full and wide lips
- Sideways curvature of the spine, also called scoliosis
How many people have HNRNPH2-related neurodevelopmental disorder?
As of 2022, about 49 people in the world with HNRNPH2-related neurodevelopmental disorder have been described in medical research.
Research Article Summaries
Previous Registry Reports