Table. Overview of results.
Total | Patients | ||
<18 years | ≥18 years | ||
Patients recruited without a diagnosis | 5652 | 3619 | 2033 |
Total number of diagnoses made | 1682 | 1161 | 521 |
Rare diagnoses (<1:2000; orpha code) | 1401 | 1088 | 313 |
Common diagnoses | 193 | 73 | 120 |
Psychosomatic disorders | 88 | 0 | 88 |
Diagnosis made using exome sequencing (a total of 1599 exome diagnostic tests) | 506 | 415 | 91 |
Total number of case conferences | 14 850 | 8110 | 6740 |
Case conferences per patient | 3 | 3 | 2 |
Number of experts per case conference | 6 | 7 | 4 |