Conditions / Nervous system
PEHO syndrome
info · Nervous system
A brain disease that is characterized by extreme cerebellar atrophy due to almost total granule neuron loss.
Signs and symptoms
- Epicanthus
- Narrow forehead
- Hypsarrhythmia
- Tented upper lip vermilion
- Seizure
- Cerebellar atrophy
- Profound intellectual disability
- Short nose
- Severe muscular hypotonia
- Generalized hypotonia