The clinical features of this disease include:
- Developmental delay
- Intellectual disability
- Speech impairment
- Truncal hypotonia
- Progressive peripheral spasticity
- Failure to thrive
- Cachexia
- Eye movement disorders, including strabismus and nystagmus
- Microcephaly
- Short stature
- Mild facial dysmorphia
- Absence of seizures and largely normal MRI findings