| Impaired tRNA modification | Reduced wobble uridine modification affects translation efficiency |
| Defective neuronal migration | During development, neurons fail to properly migrate to their destinations |
| Axonal degeneration | Long axons are particularly affected |
| Orthostatic hypotension | Severe drop in blood pressure upon standing |
| Temperature dysregulation | Inability to sweat properly or regulate body temperature |
| Gastrointestinal dysfunction | Severe gastroparesis, feeding difficulties, cyclic vomiting |
| Reduced tear production | Alacrima (absent tears) |
| Speech and swallowing difficulties | Dysphagia, aspiration risk |
| Loss of pain and temperature sensation | Particularly in the periphery |
| Impaired proprioception | Difficulty with balance and coordination |
| Taste disturbances | Absence of taste buds (fungiform papillae) |
| Insensitivity to hypoxia | Reduced awareness of breathlessness |
| Databases | OMIMOrphanetClinicalTrialsPubMed |
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