Percentage of mutation positive relatives evaluated for each major clinical feature of AGS
| Diagnostic test | Relatives who had diagnostic test |
|---|---|
| Liver function tests | 77% (41/53) |
| Echocardiogram | 94% (50/53) |
| Opthalmological assessment | 58% (31/53) |
| Spinal x rays | 36% (19/53) |
| Dysmorphology assessment | 83% (44/53) |