Below is a summary for 2p16.3 deletion syndrome or NRXN1-related disorder observed in research publications. This is not meant to take the place of medical advice.
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What is 2p16.3 deletion syndrome or NRXN1-related disorder?
2p16.3 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.
2p16.3 deletion syndrome is also called NRXN1-related disorder. Both conditions are caused by a deletion in the NRXN1 gene, which is missing when a person has a 2p16.3 deletion. A person has 2p16.3 deletion syndrome or NRXN1-related disorder when there is one non-working or missing NRXN1 gene.
There is a different condition named Pitt Hopkins-like syndrome 2, which occurs when a person has two NRXN1 genes that are not working or missing.
Because the 2p16.3 region is important for the proper function of the body’s cells, some people may have:
- Developmental delay
- Intellectual disability
- Speech and language delay
- Other behavior issues, such as attention deficit hyperactivity disorder, also called ADHD
- Low muscle tone
- Breathing issues
Do people who have 2p16.3 deletion syndrome look different?
People who have 2p16.3 deletion syndrome generally do not look different.
How many people have 2p16.3 deletion syndrome?
As of 2021, at least 12 people with 2p16.3 deletion syndrome have been described in medical research.
Research Article Summaries