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.