The clinical features of pontocerebellar hypoplasia type 2F include:
- Pontocerebellar hypoplasia
- Progressive microcephaly
- Hypotonia
- Intellectual disability (from mild to severe)
- Seizures (some patients)
- Motor delay (some patients)
- Poor speech (some patients)
- Other rarer manifestations:
- Spasticity
- Hyperreflexia
- Extensor plantar response
- Cortical atrophy
- Strabismus
- Poor visual fixation