The main symptoms of STT3A-CDG have been reported as:
• Variable skeletal anomalies
• Short stature
• Dysmorphic features
• Early onset arthritis
• Intellectual disability or developmental delay.
• Increased muscle tone and muscle cramps.
• Epilepsy
The clinical features of STT3A-CDG are quite variable. Not all features are present in all affected individuals, and we expect additional symptoms in future patients.
STT3A