Table 1.
Demographics of the complete cohort (349 patients) and cases with genetic diagnosis (P/LP variants identified), uncertain (VUS) and no diagnoses (no relevant variant identified).
| Features | All index cases n = 349 |
Patients with genetic diagnosis n = 214 | Patients with uncertain diagnosis n = 69 | Patients with no diagnosis n = 66 | Chi-square p value |
|---|---|---|---|---|---|
| (% relative to total number of cases in the category) | (% relative to total number of cases in the category) | (% relative to total number of cases in the category) | |||
| Age at onset | |||||
| Prenatal | 45 | 29 (64.4%) | 10 (22.2%) | 6 (13.3%) | 0.352 |
| 0–5 years old | 200 | 119 (59.5%) | 43 (21.5%) | 38 (19.0%) | |
| >5 years old | 33 | 21 (63.6%) | 3 (9.1%) | 9 (27.3%) | |
| Not provided | 71 | 45 | 13 | 13 | |
| Family history | |||||
| Positive | 179 | 109 (60.9%) | 38 (21.2%) | 32 (17.9%) | 0.886 |
| Negative | 150 | 92 (61.4%) | 29 (19.3%) | 29 (19.3%) | |
| Unknown | 20 | 13 | 2 | 5 | |
| Consanguinity | |||||
| Yes | 295 | 186 (60.1%) | 57 (19.3%) | 52 (17.6%) | 0.02 |
| No | 38 | 15 (39.5%) | 12 (31.6%) | 11 (28.9%) | |
| Unknown | 16 | 13 | 0 | 3 | |