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
| 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%) |