Mutations in the ADAT3 gene may cause the following signs and symptoms:
- Intellectual disability
- Strabismus (crossed eyes)
- Microcephaly (smaller-than-normal head)
- Hypotonia (reduced muscle tone) that can progress to spasticity
- Abnormal brain findings on MRI imaging
- Epilepsy
- Unusual facial features
- Hyperactive behaviour
- Aggressive behaviour