The clinical spectrum associated with RPH3A variants is broad. Based on the cohort of currently identified individuals, two primary phenotypes can be distinguished:
• Severe Neurodevelopmental Disorder: This presentation is primarily characterized by drug-resistant epilepsy and moderate intellectual disability. Hypotonia is also a key feature in this group.
• Milder Neurodevelopmental Disorder: This presentation is characterized by high-functioning autism spectrum disorder (ASD) and learning disabilities or mild ID. Seizures are typically absent in this group.
Other associated features reported in some individuals include hyperactivity, dysgraphia, increased body weight or obesity, and abnormal facial features.
RPH3A