UNC80

Clinical Characteristics

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.