Infancy:

  • Physical abnormalities
  • Abnormal feeding/failure to thrive
  • Developmental delays
  • Organ system failures including hepatic, renal and cardiac failure

Childhood:

  • Cognitive and intellectual deficiency
  • Speech delay
  • Psychomotor delay
  • Coagulation deficiencies; stroke
  • Seizures
  • Peripheral Neuropathy
  • Muscle weakness
  • Ophthalmic issues

Adulthood:

  • Worsening of Peripheral Neuropathy
  • Increased muscle weakness; mobility impairment
  • Skeletal malformations apparent (short stature, fixed joints, etc.)
  • Infertility; hormonal insufficiency
  • Cerebellar ataxia