Table 3.
Overview of disease features in 17 reported NANS-CDG cases.
| Reported symptoms | Frequencya | % |
|---|---|---|
| IDD | 17 | 100 |
| Abnormal muscle tone | 17 | 100 |
| Short stature | 16 | 94.1 |
| Facial dysmorphisms | 15 | 88.2 |
| Skeletal dysplasiab | 14 | 82.3 |
| Short limbsc | 13 | 76.5 |
| Ocular abnormalities | 11 | 64.7 |
| Brain septum pellucidum abnormalities | 8 | 47.1 |
| Joint hypermobility | 7 | 41.2 |
| Recurrent infections | 6 | 35.3 |
| Gastrointestinal dysfunction | 6 | 35.3 |
| Thrombocytopenia | 5 | 29.4 |
| Seizure history | 5 | 29.4 |
| Hypo-LDL cholesterolemia | 4 | 23.5 |
a
Frequency of all symptoms based on current reported patients and cases described by van Karnebeek et al. (5), according to findings documented in the published manuscript and supplemented clinical patient reports.
b
Skeletal X-rays were not available in three patients [patient 8 in current report and patients 6 and 7 in the 2016 report (5)].
c
Measured on clinical examination.