UNC80

Clinical Characteristics

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