Below is a summary for the KDM3B gene observed in research publications. This is not meant to take the place of medical advice.
The online Gene Guide includes more information about KDM3B such as the chance of having another child with this condition, behavior and development concerns linked to KDM3B-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
What is KDM3B-related syndrome?
KDM3B-related syndrome happens when there are changes to the KDM3B gene. These changes can keep the gene from working as it should.
KDM3B-related syndrome is also called Diets-Jongmans syndrome.
The KDM3B gene plays a key role in brain development.
Because the KDM3B gene is important in the development and function of brain cells, many people who have KDM3B-related syndrome have:
- Developmental delay
- Intellectual disability
- Behavioral concerns
How many people have KDM3B-related syndrome?
As of 2019, about 17 people in the world with changes in the KDM3B gene had been described in the medical literature. The first case of KDM3B– related syndrome was described in 2019. Scientists expect to find more people who have the syndrome as access to genetic testing improves.
Almost everyone (16 out of 17) in the study had a developmental delay or intellectual disability.
About half had behavioral concerns.
25 percent had Attention Deficit Hyperactivity Disorder (ADHD).
20 percent had autism.
Feeding and Digestion
More than half of those in the study had feeding difficulties as infants.
Research Article Summaries