Below is a summary for the HNRNPUL2 gene observed in research publications. This is not meant to take the place of medical advice.

What is HNRNPUL2-related disorder?

HNRNPUL2-related disorder happens when there are changes to the HNRNPUL2 gene. These changes can keep the gene from working as it should.

Key Role

The HNRNPUL2 gene may play an important role in human development.


Because the HNRNPUL2 gene might be important in the development and function of brain cells, many people who have HNRNPUL2-related disorder have:

  • Intellectual disability
  • Development delay
  • Delays or difficulty in speaking
  • Seizures
  • Attention-deficit/hyperactivity disorder, also called ADHD
  • Autism spectrum disorder

Do people who have HNRNPUL2-related disorder look different?

People with HNRNPUL2-related disorder may look different. Appearance can vary and can include, but are not limited to:

  • Growth delay
  • Lower than average muscle tone

How many people have HNRNPUL2-related disorder?

As of 2023, about 20 people in the world with HNRNPUL2-related disorder have been included in medical research.


Support Resources


Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about HNRNPUL2 genetic changes by taking part in our research. You can learn more about the project and sign up here.


Family Stories

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