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)