| Cognitive impairment | Mild to moderate intellectual disability in some cases |
| Movement disorders | May include chorea, dystonia, or tremor |
| Seizures | Reported in a minority of patients |
| Elevated serum alpha-fetoprotein (AFP) | A characteristic laboratory finding[^8] |
| Elevated creatine kinase (CK) | Common laboratory abnormality |
| Databases | OMIMOrphanetClinicalTrialsPubMed |