Distribution of diagnostic mutations
| Diagnosis | Number | Investigated | % | Diagnostic mutations | % |
|---|---|---|---|---|---|
| CAKUT Isolated | 24 | 4 | 17 | 0 | 0 |
| CAKUT plus extra-renal | 16 | 7 | 44 | 1 | 6 |
| Non-CAKUT Isolated | 7 | 5 | 71 | 2 | 29 |
| Non-CAKUT plus extra-renal | 19 | 15 | 79 | 11 | 58 |
| Unknown | 2 | 2 | 100 | 0 | 0 |
| Total | 68 | 33 | 14 |