Mutations in PUS3 may cause the following health conditions:
- Intellectual disability (severe to profound)
- Global developmental delay
- Failure to thrive
- Growth deficiency (although birth growth parameters are usually normal)
- Coarse facial features
- Smaller-than-normal head
- Seizures (some patients)
- Brain imaging abnormalities
- Grey sclera
- Mongolian spots (flat, grey-blue spots on the skin)
- Strabismus (crossed eyes)
- Reduced muscle tone