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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

From: Clinical, biochemical and molecular phenotype of congenital disorders of glycosylation: long-term follow-up

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
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