| p.I278T | common in European populations |
| p.G307S | prevalent in Irish ancestry |
| p.A114V | found in various populations |
| p.R125Q | observed in multiple ethnic groups |
| Endothelial dysfunction | homocysteine damages vascular endothelium |
| Oxidative stress | increased reactive oxygen species production |
| ER stress | protein misfolding due to impaired disulfide bond formation |
| Excitotoxicity | altered glutamate metabolism |
| Impaired one-carbon metabolism | affecting DNA synthesis and repair[@sacharow2019] |
| Ectopia lentis | dislocation of the lens (most characteristic finding) |
| Marfanoid habitus | tall stature, long limbs, arachnodactyly |
| Intellectual disability | ranging from mild to severe |
| Databases | OMIMOrphanetClinicalTrialsPubMed |
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