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Table 1 Demographic characteristics for patients enrolled in the NGLY1 patient registry for whom phenotypic information is available (N = 37), including age of symptom onset and age of diagnosis. Categorical variables are presented as number and percentage N (%). Quantitative variables are presented as mean and standard deviation, as well as median and range

From: NGLY1 deficiency: estimated incidence, clinical features, and genotypic spectrum from the NGLY1 Registry

 

N = 37

 

N = 37

Sex

 

Age at Enrollment

 

Male

19 (51%)

Mean (SD)

8.1 years (5.8)

Female

18 (49%)

Median (Min,Max)

7 years (0.24)

Country of Origin

% of Cohort

Symptom Onset

 

Brazil

2 (5.4%)

Mean (SD)

4.5 months (4.7)

Canada

5 (13.5%)

Median (Min,Max)

4 months (0.24)

China

1 (2.7%)

  

Denmark

1 (2.7%)

Age at Diagnosis

 

France

3 (8.1%)

Mean (SD)

6.6 years (5.1)

Germany

1 (2.7%)

Median (Min,Max)

5 years (0.20)

India

1 (2.7%)

  

Israel

1 (2.7%)

  

Mexico

1 (2.7%)

  

Spain

1 (2.7%)

  

The Netherlands

1 (2.7%)

  

USA

19 (51.4%)