The symptoms of RPH3A-related disorder can vary quite a bit from person to person. Doctors have noticed two main patterns:
• A more severe form that often includes seizures that are difficult to control with medication, significant learning difficulties (intellectual disability), and low muscle tone (hypotonia), which can make a child seem "floppy".
• A milder form where individuals may have autism spectrum disorder (ASD), often with strong verbal skills, along with learning disabilities.
Other challenges that can sometimes be seen include hyperactivity, trouble with writing (dysgraphia), and gaining weight more easily.
RPH3A