Clinical features of patients 1 and 2, compared with MEB and WWS patients with confirmed mutations in POGnT1 and POMT1, respectively
| Feature * | MEB | WWS | Patient 1† | Patient 2‡ |
|---|---|---|---|---|
| MEB, muscle-eye-brain disease; WWS, Walker–Warburg syndrome; FTP, fronto, temporal, and parietal. | ||||
| *The severity of the symptoms grade from – (absent) to +++ (very pronounced); †MEB phenotype, FKRP mutations; ‡WWS phenotype, FKRP mutations. | ||||
| Cortical abnormality | Pachygyria/polymicrogyria | Agyria thin mantle | FTP pachygyria | Agyria |
| Encephalocele | − | + | − | − |
| Hydrocephalus | ++ | +++ | + | +++ |
| White matter abnormality | + | +++ | − | ++ |
| Fused hemispheres | − | + | − | − |
| Absent septum | − | + | − | + |
| Corpus callosum | Normal/thin | Absent | Normal | Absent |
| Cerebellar hypoplasia | ++ | +++ | ++ | +++ |
| Cerebellar vermis | Hypoplastic | Absent | Hypoplastic | Absent |
| Cerebellar cysts | ++ | − | ++ | − |
| Muscular dystrophy | +++ | +++ | +++ | +++ |
| Micropthalmia | + | ++ | − | ++ |
| Retinal defects | ++ | +++ | + | − |
| Anterior chamber abnormalities | ++ | +++ | ++ | ++ |
| Life expectancy | 10–30 years | <3 years | 7 years | 3 years |