Table 1:
Demographic, genetic, and clinical information of individuals with disease-causing missense variantsa
| Characteristics | Individuals (n = 18) |
|---|---|
| Age at last evaluation (yr) | 4.46 (1.9–12.1) |
| Sex: female/male | (8:10) |
| H3F3 variant | |
| H3F3A | 11 (61) |
| H3F3B | 7 (39) |
| Microcephaly | 8 (44) |
| Seizures | 10 (56) |
| Febrile | 5 (50) |
| Nonfebrile | 5 (50) |
| Sitting (n = 17) | |
| Normal | 1 (6) |
| Delayed | 12 (71) |
| Not achieved | 4 (23) |
| Walking | |
| Normal | 2 (11) |
| Delayed | 10 (56) |
| Not achieved | 6 (33) |
| Speaking | |
| Normal | 1 (6) |
| Delayed | 7 (38) |
| Not achieved | 10 (56) |
a
Categoric variables are described as number (percentage). Continuous variables are described as median (1Q–3Q).