Mutations in PTPN23 may cause the following health conditions:
- Global developmental delay
- Reduction in the brain volume
- Uncontrollable seizures
- Abnormally small head
- Delayed speech and language development
- Motor delay
- Movement abnormalities
- Developmental regression (loss of previously acquired skills)
- Structural brain abnormalities detected by MRI imaging
- Visual abnormalities, including blindness
- EEG abnormalities
- Increased muscle tone
- Cerebral palsy
- Gastro esophageal reflux
A severe manifestation of the disease usually results in early death.