Table 2.
Typea | Pediatric rare diseases on Orphanet that follow this inheritance mode, n (%) | Pediatric rare diseases with ≤1 group that follow this inheritance mode, n (%) |
Autosomal recessive | 1765 (55.6) | 314 (38.0) |
Autosomal dominant | 971 (30.6) | 279 (33.8) |
X-linked recessive | 306 (9.6) | 75 (9.1) |
X-linked dominant | 70 (2.2) | 25 (3.0) |
Multigenic or multifactorial | 74 (2.3) | 31 (3.8) |
Mitochondrial | 15 (0.5) | 1 (0.1) |
Y-linked | 1 (<0.01) | 0 (0.0) |
Inheritance not applicable | 513 (16.2) | 197 (23.8) |
aMore than one may apply.