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

What is HNRNPD-related disorder?

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

The HNRNPD gene is often found within a deletion of the 4q21.22 region on chromosome 4. Chromosomes are structures in our cells that house our genes.

HNRNPD-related disorder also happens in people with genetic variants that cause a loss of function in the HNRNPD gene.

Key Role

HNRNPD binds to a molecule in the cell called RNA. RNA is made from a DNA sequence and is needed for cell protein production.


Because the HNRNPD gene might be important in development, some people may have:

  • Developmental delay
  • Intellectual disability
  • Speech delay
  • Emotional or behavioral issues
  • Attention-deficit/hyperactivity disorder, also called ADHD
  • Seizures

Do people who have an HNRNPD genetic variant look different?

People with an HNRNPD genetic variant may look different. Appearance can vary and can include, but are not limited to, these features:

  • Ear defects or larger than average ears
  • Rounder than average face

How many people have an HNRNPD genetic variant?

As of 2023, about 14 people in the world with an HNRNPD genetic variant have been identified in medical research.


Support Resources


Research Opportunities

Simons Searchlight

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


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