TSEN15

Clinical Characteristics

The clinical features of pontocerebellar hypoplasia type 2F include:

  • Pontocerebellar hypoplasia (progressive atrophy of various parts of the brain such as the cerebellum or brainstem)
  • Progressive microcephaly (abnormally small head)
  • Low muscle tone
  • Intellectual disability (from mild to severe)
  • Seizures (reported in some patients)
  • Motor delay (reported in some patients)
  • Poor speech (reported in some patients)
  • Other rarer manifestations:
    • Spasticity (stiffness or continual contraction of muscles)
    • Overactive or overresponsive reflexes
    • Atrophy of the cortex of the brain
    • Strabismus (‘crossed-eyes’)
    • Poor visual fixation (difficulty maintaining the visual gaze on a single location)