Families

RPH3A-related disorder is a rare genetic condition that affects brain development and function. It is caused by a very small change (a "variant" or "mutation") in the RPH3A gene. In all known cases, this gene change happened for the first time in the affected individual and was not inherited from a parent (de novo). The condition can affect individuals differently. Some may have more severe symptoms, like seizures, while others have milder challenges, like features of autism. The RPH3A gene provides instructions for a protein that is very important for how brain cells communicate, which is essential for learning and memory.