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

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