| p.R750W | Common in European populations |
| p.D620G | Frequent in some populations |
| p.E953K | Associated with milder phenotype |
| [Neurons](/entities/neurons) | Cytoplasmic vacuolization, eventual neuronal loss |
| Oligodendrocytes | Myelin breakdown, white matter abnormalities |
| Skeletal muscle | Fiber atrophy, vacuolar changes |
| Bone | Dysostosis multiplex pattern |
| Immune cells | Reduced lymphocyte function |
| Severe (Type I) | Early onset, rapid progression, profound intellectual disability |
| Moderate (Type II) | Typical presentation in childhood |
| Mild (Type III) | Later onset, slower progression |
| Intellectual disability | Present in nearly all patients |
| Databases | OMIMOrphanetClinicalTrialsPubMed |
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