Parents

KDM5A-related neurodevelopmental disorder is caused by mutations in one or two copies of the KDM5A gene. Almost all individuals affected with this disorder have autism, intellectual disability, developmental delay, and either absent or severely impaired speech. Some individuals also have seizures, muscle weakness, and movement issues.

Some patients with this disorder have a new mutation in their KDM5A gene (one copy) that they did not inherit from their parents. However, other patients have KDM5A mutations (two copies) that were inherited from their parents. A genetic counselor should be consulted to assess the likelihood of having another child with KDM5A-related neurodevelopmental disorder.