Table 1.
Demographics and Clinical Presentation of Patients with NOMIDa
| Patient | Age (yr) | Sex | Weight, kg (percentile) | Height, cm (percentile) | CIAS1 mutation | Fever | Rash |
|---|---|---|---|---|---|---|---|
| 1 | 8 | M | 29.6 (81) | 115.2 (<3) | N | Y | |
| 2 | 8 | M | 15.6 (<3) | 92.3 (<3) | Y | Y | |
| 3 | 8 | F | 19.7 (4) | 126.3 (43) | G569R | Y | Y |
| 4 | 4 | M | 14.4 (16) | 100.8 (39) | G326E | Y | Y |
| 5 | 4 | F | 18.2 (83) | 94.3 (6) | Y | Y | |
| 6 | 9 | F | 49.7 (>97) | 150.3 (>97) | D303N | Y | Y |
| 7 | 11 | M | 13.0 (<3) | 81.5 (<3) | Y | Y | |
| 8 | 8 | F | 19.3 (<3) | 89 (<3) | A374N | Y | Y |
| 9 | 11 | F | 40.9 (68) | 139 (26) | V262A | Y | Y |
| 10 | 8 | M | 25.9 (54) | 114 (<3) | L632F | Y | Y |
| 11 | 7 | M | 26.9 (37) | 125.6 (10) | F523C | Y | Y |
| 12 | 1 | F | 10.8 (62) | 83.7 (>97) | L264F | Y | Y |
| 13 | 8 | F | 15.2 (<3) | 93.8 (<3) | Y | Y | |
| 14 | 1 | M | 15.4 (>97) | 80 (15) | D303N | Y | Y |
| 15 | 3 | F | 11 (3) | 49.4 (<3) | None | Y | Y |
| 16 | 1 | F | 10.4 (75) | 74 (50) | G755A | Y | Y |
| 17 | 0.75 | F | 6 (<3) | 45.5 (<3) | I334F | Y | Y |
a
Y indicates presence and N absence of the listed abnormality. Age is that at the time of first anesthetic.