Table 1.
Patient characteristics.
| Characteristics | All patients (N = 177) | Diagnostic variants | |
|---|---|---|---|
| Detected (n = 78) | Not detected (n = 99) | ||
| Age at analysis, years, median (range) | 4 (0–30) | 4 (0–30) | 5 (0–24) |
| Sex, n (%) | |||
| Male | 81 (46) | 34 (44) | 47 (47) |
| Female | 96 (54) | 44 (56) | 52 (53) |
| Major symptoms, n (%) | |||
| Global developmental delay (HP:0001263) | 95 (54) | 47 (60) | 48 (48) |
| Seizures (HP:0001250) | 40 (23) | 17 (22) | 23 (23) |
| Intellectual disability (HP:0001249) | 29 (16) | 13 (17) | 16 (16) |
| Muscular hypotonia (HP:0001252) | 24 (14) | 16 (21) | 8 (8.1) |
| Dysmorphic facial features (HP:0001999) | 17 (9.6) | 5 (6.4) | 12 (12) |
| Short stature (HP:0004322) | 14 (7.9) | 7 (9.0) | 7 (7.1) |
| Microcephaly (HP:0000252) | 11 (6.2) | 4 (5.1) | 7 (7.1) |
| Others | 38 (21) | 9 (12) | 29 (29) |
| Type of samples, n (%) | |||
| Trio | 168 (95) | 74 (95) | 94 (95) |
| Duo | 9 (5.1) | 4 (5.1) | 5 (5.1) |