Abnormal imaging information of individuals with disease-causing H3F3 missense variantsa
| Imaging Features | Individuals(n = 18) |
|---|---|
| Small posterior fossa | 13 (72) |
| Cerebellum | 2 (11) |
| Brainstem | 2 (11) |
| Thalamus | 0 |
| Caudate | 8 (44) |
| Putamen | 0 |
| Globus pallidum | 0 |
| Corpus callosum | 5 (28) |
| Fourth ventricle | 6 (33) |
| Lateral ventricle | 7 (38) |
| White matter | 2 |
| Cortex | 8 (44) |
| Optic nerves and chiasm | 1 (6) |
| Temporal lobes/hippocampus | 8 (44) |
| Clivus/sella | 4 (22) |
↵a Categoric variables are described as number (percentage).