2q37.3 Deletion

Below is a summary for 2q37.3 deletion syndrome observed in research publications. This is not meant to take the place of medical advice.

What is 2q37.3 deletion syndrome?

2q37.3 deletion syndrome happens when a person is missing a piece of chromosome 2, one of the body’s 46 chromosomes. Chromosomes are structures in our cells that house our genes. The missing piece can affect learning and how the body develops.


Because the 2q37.3 region is important for the proper function of the body’s cells, some people may have:

  • Obesity
  • Developmental delay
  • Intellectual disability
  • Sleep disturbance
  • Self-injury behavior
  • Aggression
  • Attention deficit hyperactivity disorder, also called ADHD
  • Low muscle tone
  • Seizures
  • Autism
  • Heart issues
  • Gastrointestinal problems
  • Recurrent ear infections
  • Breathing issues

Do people who have 2q37.3 deletion syndrome look different?

People with 2q37.3 deletion syndrome may look different. Appearance can vary and can include some but not all of these features:

  • Shorter than average height
  • Bones of the hands or feet that are shorter than average
  • Round face
  • Wide face
  • Deep-set eyes
  • Sparse or thin hair

How many people have 2q37.3 deletion syndrome?

As of 2022, at least 115 people with 2q37.3 deletion syndrome have been described in medical research.


Support Resources



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 is currently no GeneReviews for 2q37.3 Deletion.


Research Article Summaries

We currently do not have any article summaries for 2q37.3 Deletion, but we add resources to our website as they become available.

The information available about 2q37.3 Deletion 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.

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 2q37.3 Deletion articles can be found here.


Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about 2q37.3 Deletion 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 2q37.3 Deletion families.

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