Clinical Characteristics

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.