Frequency of definitely or probably pathogenic variants according to age
| Age at Onset (yr) | Total | Familial | Sporadic | Variant Identified | Definite or Probable Genetic Cause (%) | |
|---|---|---|---|---|---|---|
| Definitely Pathogenic | Probably Pathogenic | |||||
| <2 | 7 | 4 | 3 | 4 | 2 | 86 |
| 2–5 | 11 | 2 | 9 | 0 | 2 | 18 |
| >5 | 18 | 4 | 14 | 3 | 0 | 17 |