Table 1.
Characteristics at Baseline of Participants With ALGS
| Characteristic | Group or Statistic | |
|---|---|---|
| Age (years) | n | 293 |
| Median (Q1, Q3) | 3.0 (1.0‐8.0) | |
| Range (min, max) | (0, 25) | |
| Gender | Male | 175 (60%) |
| Mutational analysis | JAG1 | 187 (64%) |
| NOTCH2 | 9 (3%) | |
| Neither JAG1 or NOTCH2 | 10 (3%) | |
| Not tested | 87 (30%) | |
| Race | White | 181 (62%) |
| Black or African American | 33 (11%) | |
| Asian | 13 (4%) | |
| Other | 39 (13%) | |
| Missing or refused | 27 (9%) | |
| Ethnicity | Hispanic | 65 (22%) |
| Non‐Hispanic | 219 (75%) | |
| Missing or refused | 9 (3%) | |
| Cardiac features | Severe* heart defect | 89 (30%) |
| Mild† heart defect | 170 (58%) | |
| No cardiac involvement | 34 (12%) | |
| Renal features | Any renal anomaly | 63 (22%) |
| Height z‐score | n | 266 |
| Mean (SD) | −1.9 (1.4) | |
| Weight z‐score | n | 269 |
| Mean (SD) | −1.9 (1.5) | |
| BMI z‐score‡ | n | 171 |
| Mean (SD) | −0.4 (1.2) |
*
Severe heart defect = any intracardiac or valvar defect, coarctation of the aorta.
†
Mild heart defect = peripheral pulmonary stenosis, murmur with normal echocardiogram.
‡
Not available for participants younger than 2 years old.
Abbreviation: BMI, body mass index.