Parents

What is HEATR5B-related disease?
A genetic change in the HEATR5B gene (also called a mutation or pathogenic variant) has been linked to motor and developmental delay / intellectual disability and neonatal seizures. These result from structural changes in the brain, most strikingly in the hindbrain, which is dramatically reduced in compared to the rest of the brain.

This disorder is caused by recessive mutations, which means that a patient has two functionally-impaired copies of this gene. Parents that carry only one impaired copy (often referred to as carriers) appear to have no clinical phenotypes.

How many people are affected by HEATR5B-related disease?
This is a rare disease, and—so far—only four patients in two families have been reported. We are still learning more about this condition.