This condition primarily affects the brain and nervous system, muscles, and behaviour. Some of the main features are significant muscle weakness, developmental delay, problems with vision, and gastrointestinal and respiratory complications. From birth, there are specific behaviours and facial features which could indicate a child carries this genetic change. Because of this, monitoring during infancy is important. As they grow, they may also experience developmental delay or intellectual disability, behaviours associated with autism (such as pica, repetitive movements, etc.), short stature, hypermobility, seizures, and other symptoms you can discuss with your care provider.
POLR2A