No clinical details | 729 (28.6) | 3 (0–86) | 66/729 (9.1%)* | Z = −2.78, p<0.01 |
Developmental regression/delay | 559 (21.9) | 2 (0–59) | 17/559 (3.0%)* | Z = 2.87, p<0.01 |
Seizures | 305 (12.0) | 3 (0–81) | 6/305 (2.0%)* | Z = 2.96, p<0.01 |
Ataxia/dystonia | 283 (11.1) | 6 (0–88) | 11/283 (3.9%) | Z = 1.51, p = 0.11 |
Cardiomyopathy | 224 (8.8) | 0 (0–57) | 11/224 (4.9%) | Z = 0.73, p = 0.47 |
Miscellaneous | 197 (7.7) | 0 (0–79) | 9/197 (4.6%) | Z = 0.88, p = 0.36 |
Hepatosplenomegaly | 109 (4.3) | 0 (0–36) | 10/109 (9.2%) | Z = −1.29, p = 0.16 |
Ophthalmic | 64 (2.5) | 7 (0–29) | 19/64 (39.7%)* | Z = −7.45, p<0.0001 |
Family history | 45 (1.8) | 5 (0–25) | 6/45 (13.3%)* | Z = −1.98, p = 0.04 |
Failure to thrive | 28 (1.0) | 0 (0–8) | 0/28 (0%) | Z = 1.40, p = 0.14 |
Respiratory failure | 7 (0.3) | 39 (0–78) | 1/7 (14.2%) | Z = −0.90, p = 0.21 |
Overall | 2550 (100) | 2 (0–88) | 156/2550 (6.5%) | |