Clinical Characteristics

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.