Clinical manifestation summary of the four patients from two Chinese families
| Clinical manifestations | F1 II-1 | F1 II-2 | F2 II-1 | F2 II-2 |
| Developmental regression (HP:0002376) | + | + | + | + |
| Strabismus (HP:0000486) | + | + | – | – |
| Lower limb hypertonia (HP:0006895) | – | + | + | + |
| Lower limb hyperreflexia (HP:0002395) | + | + | + | + |
| Short stature (HP:0004322) | + | – | NA | NA |
| Failure to thrive (HP:0001508) | + | + | NA | NA |
| Deep cerebral white matter hyperdensities (HP:0030892) | + | + | + | + |
+, present; -, absent; NA, not available.