PhenomeGene — Human Disease Gene Website SeriesRPIA

Clinical Characteristics

Children with RPIAdeficiency may have:
•    Delayed development
•    Loss of previously learned skills over time
•    Seizures
•    Problems with balance and coordination
•    Muscle stiffness or weakness
•    Vision problems in some cases

Brain scans usually show changes in the white matter, which connects different parts of the brain. Symptoms often slowly worsen over time.