The clinical features of this disease, per organ system, include:
Central Nervous System
- Intellectual disability
- Hypotonia
- Spasticity (some patients)
- Epilepsy (some patients)
- Agenesis of the corpus callosum
- Reduced white matter volume
- Brain atrophy
Head and Neck
- Microcephaly
- Strabismus (most patients)
- Esotropia
- Epicanthus
- Telecanthus
- Upslanting palpebral fissures
- Depressed nasal bridge
- Prominent forehead
- Dysmorphic facial features (some patients)
Other
- Short stature
- Failure to thrive
- Aggressive behavior (some patients)
- Hyperactive behavior (some patients)
- Endocrine abnormalities (rare)