Below is a summary of SETBP1 haploinsufficiency disorder observed in research publications. This is not meant to take the place of medical advice.
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What is SETBP1 haploinsufficiency disorder?
SETBP1 haploinsufficiency disorder happens when there are changes to the SETBP1 gene. These changes can keep the gene from working as it should.
Genetic variants in SETBP1 can cause other conditions, including Schinzel-Giedion syndrome and SETBP1-related disorders. The information below focuses on genetic variants that lead to SETBP1 haploinsufficiency disorder.
The SETBP1 gene is important for the function and development of brain cells.
Because the SETBP1 gene is important for the brain, some people may have:
- Intellectual disability
- Attention deficit hyperactivity disorder, also called ADHD
- Low muscle tone
- Sleep problems
- Vision problems, often requiring glasses
- Speech issues
- Developmental delay
- Behavior issues
Do people who have SETBP1 haploinsufficiency disorder look different?
People with SETBP1 haploinsufficiency disorder may look different. Appearance can vary and can include some but not all of these features:
- Long chin
- Longer than average face
- Long, narrow head shape, front to back
- Flat back of the head
- Thin upper lip
How many people have SETBP1 haploinsufficiency disorder?
As of 2022, about 142 people with SETBP1 haploinsufficiency disorder have been identified in a medical clinic.
Research Article Summaries
Previous Registry Reports