Mutations in C12orf57 gene may cause the following signs and symptoms (listed from the most common to the least common):
- Developmental delay and intellectual disability
- Epilepsy (usually starts at an early age and cannot be controlled well with medication)
- Hypotonia (reduced muscle tone) that can progress to spasticity
- Degeneration of the corpus callosum (a tissue connecting the left and right sides of the brain and plays a role in coordination and complex problem solving)
- Unusual facial features
- Visual involvement
- Congenital heart disease