Table 1 Demographic features
Characteristics | N = 81 |
|---|---|
Male: Female (male%) | 51: 30(63.0%) |
Age, median (IQR), range, m | 50 (25, 74), (2, 15y) |
Age of onset, median (IQR), range, m | 3.5 (3, 7), (0, 2y3m) |
  ≤ 1 m, n (%) | 9 (12.0) |
  1 m < age ≤ 1y, n (%) | 61 (79.0) |
  1y < age ≤ 3y, n (%) | 7 (9.0) |
Age of genetic diagnosis, median (IQR), range, m | 24 (14.5, 72), (3, 12y) |
Interval from onset to genetic diagnosis, median (IQR), range, m | 21 (9, 55.5), (1, 12y) |
   ≤ 6 m, n (%) | 13 (20.3) |
   6 m < t ≤ 1y, n (%) | 11 (17.0) |
   1y < t ≤ 3y, n (%) | 18 (28.0) |
   3y < t ≤ 5y, n (%) | 10 (16.0) |
   > 5y, n (%) | 12 (19.0) |
Duration from diagnosis to genetic counseling, median (IQR), range, m | 10 (4, 23), (0, 6y4m) |
Number of referrals, median (IQR), range | 4 (3, 5), (2, 8) |
Method of diagnosis, n (%) | |
  Whole exome sequencing | 43 (56) |
  Targeted exome sequencing | 31 (40) |
  Sanger sequencing | 3 (4) |