This work | Literature | Known MKS3 mutations | No known MKS3 mutations | |
Liver complications | 21% (5/24) | 40% (16/40) | 22% (7/32) | 47% (15/32) |
Coloboma | 71% (17/24) | 64% (25/39) | 66% (21/32) | 68% (21/31) |
Renal disease | 46% (12/26) | 77% (33/43) | 39% (13/33) | 88% (30/34) |
Renal complications | 8% (2/24) | 22% (9/40) | 12% (4/32) | 22% (7/32) |
Encephalocele | 4% (1/26) | 7% (3/42) | 6% (2/33) | 3% (1/33) |
Ptosis | 25% (6/24) | 18% (7/40) | 16% (5/32) | 25% (8/32) |
Polydactyly | 0% (0/24) | 5% (2/43) | 3% (1/33) | 3% (1/34) |
Liver complications included porto-systemic shunt, transplantation and death, while renal complications included transplantation, dialysis and death. The denominators differ in some cases because liver complications, coloboma, renal complications and ptosis were not scored in all cases, particularly in fetuses.