| with megalencephaly | 15 | other |
| recently | 12 | temporal |
| with cataract | 12 | other |
| mutation → be found in → patient | 106 |
| mutation → be described in → patient | 28 |
| mutation → be observed in → patient | 19 |
| mutation → occur in → patient | 12 |
| mutation → be seen in → patient | 9 |
| mutation → be found in → human patients | 4 |
| mutation → be present in → patient | 3 |
| mutation → be found in → affected patients | 3 |
| negative | neutral | positive |
| 0.349 | 0.607 | 0.043 |
| Raw frequency | 184 |
| Normalized frequency | 0.833 |
| Modifier score | 0.572 |
| Perplexity | 210.447 |