Clinical features of patient 1 compared with cobblestone lissencephalies
| Symptom1 | MEB | WWS | Patient 1 | FCMD |
|---|---|---|---|---|
| 1The severity of the symptoms is graded from – (absent) to +++ (very pronounced). | ||||
| FCMD, Fukuyama congenital muscular dystrophy; MEB, muscle-eye-brain disease; WWS, Walker-Warburg syndrome. | ||||
| Cortical abnormality | Pachygyria/polymicrogyria | Agyria thin mantle | Agyria/pachygyria | Pachygyria/polymicrogyria |
| Encephalocele | − | + | − | |
| Dilated ventricles | ++ | +++ | +++ | + |
| White matter abnormality | + | +++ | +++ | + |
| Fused hemispheres | − | + | ++ | + |
| Absent septum | − | + | + | − |
| Corpus callosum | Normal/thin | Absent | Absent | Normal/thin |
| Cerebellar hypoplasia | ++ | +++ | +++ | − |
| Cerebellar vermis | Hypoplastic | Absent | Absent | Normal |
| Muscular dystrophy | +++ | +++ | +++ | +++ |
| Retinal defects | ++ | +++ | + | − |
| Anterior chamber abnormalities | ++ | +++ | +++ | + |
| Life expectancy | 10–30 years | <3 years | 4½ months | 10–20 years |
| Distribution | Mostly Finland | Worldwide | Turkey | Japan |