Neurogenetic Disorders: Signs and Symptoms

What are the signs and symptoms of neurogenetic disorders?

Children with a neurogenetic disorder may have:

  • Uncontrollable (intractable) epilepsy
  • Delayed developmental skills
  • Abnormal or uncontrollable movements
  • Muscle weakness
  • Vision problems (such as retinal abnormalities, cataracts or cortical blindness)
  • Hearing problems
  • Abnormal head growth (such as growing too slowly or too rapidly)

Patients may have an abnormal imaging study (MRI or CT scan) that shows abnormal brain development.