Mutations in UNC80 gene may cause the following signs and symptoms:
- Developmental delay
- Intellectual disability
- stiffness or floppy limbs that become stiff as the disease progresses
- Failure to thrive (abnormal weight loss or insufficient wegiht gain)
- Speech impairment
- Eye movement disorders
- Microcephaly (smaller than normal head)
- Short stature
- Mild facial dysmorphia
- Usually absence of seizures and normal MRI findings.
UNC80-related disorder has a very early onset: from birth or early infancy.