Table 1.
Number of patients presenting a given symptom in the two subcohorts of PMM2-CDG patients and non-PMM2-CDG patients. P-value of the chi-squared test for independence of variables “feature/type of CDG” given in last column; symptoms for which the p-value was less than 0.05 marked with colour
| Feature | PMM2-CDG | Non-PMM2-CDG | p value of the chi-squared test for independence |
|---|---|---|---|
| Number of patients | 12 | 20 | |
| Muscle hipotonia | 10/12 | 9/20 | 0.08 |
| Motor retardation | 12/12 | 13/20 | 0.06 |
| Cerebellar ataxia | 10/10 | 4/20 | 0.0002 |
| Seizures | 3/12 | 5/20 | 1 |
| Microcephaly | 2/12 | 6/20 | 0.67 |
| Visual impairment | 8/12 | 6/20 | 0.1 |
| Strabismus | 4/12 | 1/20 | 0.1 |
| Nystagmus | 1/12 | 4/20 | 0.71 |
| Optic nerve hypoplasia/atrophy | 0/12 | 1/20 | 1 |
| Recurrent vomiting/diarrhea | 0/12 | 1/20 | 1 |
| Hepatomegaly | 8/12 | 6/20 | 0.1 |
| Failure to thrive | 9/12 | 6/20 | 0.04 |
| Hypothyroidism | 8/10 | 0/20 | < 0.0001 |
| Proteinuria | 2/12 | 2/20 | 1 |
| Pericardial effusion | 6/12 | 1/20 | 0.01 |
| Cardiomyopathy | 5/12 | 1/20 | 0.04 |
| Inverted nipples | 8/12 | 0/20 | 0.0001 |
| Cutis laxa | 0/12 | 1/20 | 1 |
| Prolonged INR | 6/12 | 2/20 | 0.04 |
| Elevated serum transaminases | 8/12 | 13/20 | 1 |
| Low antithrombin III, protein C, and S | 6/9 | 12/15 | 0.81 |