Below is a summary for the 16p13.11 Deletion observed in research publications. This is not meant to take the place of medical advice. Click HERE for the full gene guide, which includes more information, such as chance of having another child with this condition, or specialists to consider for people with this condition.
What is 16p13.11 deletion syndrome?
16p13.11 deletion syndrome can have moderate to severe effects on communication, social, and learning skills.
People who have 16p13.11 deletion syndrome may have:
- Intellectual disability
- Small head size
Do people who have 16p13.11 deletion syndrome look different?
People who have 16p13.11 deletion syndrome do not look very different.
How many people have 16p13.11 deletion syndrome?
As of 2020, doctors had described around 50 people who have 16p13.11 deletion syndrome. The first case was found in 2007. There are likely many more undiagnosed people who have the syndrome. Scientists expect to find more people who have the syndrome as access to genetic testing improves.
Do all people who have 16p13.11 deletion syndrome have symptoms?
Not necessarily. Some people do not have any symptoms. Some people may not learn that they have this genetic change until it is found in their children.
Learning problems are common in people who have 16p13.11 deletion syndrome. Combined results from different studies suggest that about 70 percent, or 23/32 people, have an intellectual disability.
Language delay and speech impairment are common.
Some people who have 16p13.11 deletion syndrome have autism, obsessive compulsive disorder, or Tourette’s syndrome, a disorder with involuntary tics and repeated sounds.
Seizures are common in people who have 16p13.11 deletion syndrome. Some people have a small head size.
Eyesight issues are common, including crossed eyes.
Research Article Summaries