PUS3

Clinical Characteristics

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