Table 1.
Clinical manifestations associate with FDXR variants (including reported cases from literature and patients reported in this paper)
| Clinical features | % |
|---|---|
| Optic neuropathy | 93.5 |
| Acoustic neuropathy | 50.0 |
| Ataxia | 43.9 |
| Hypotonia | 41.3 |
| Developmental delay | 39.1 |
| Developmental regression | 34.8 |
| Retinal dystrophy | 30.4 |
| Peripheral neuropathy | 23.9 |
| Pyramidal signs | 23.9 |
| Speech issues | 23.9 |
| Nystagmus | 17.4 |
| Loss of deambulation | 15.2 |
| Microcephaly | 15.2 |
| Cataract | 10.9 |
| Encephalopathic episodes | 10.9 |
| Dystonia | 8.7 |
| Seizures | 6.5 |
| Ophthalmoplegia | 4.3 |
| Tremor | 4.3 |
Table 1 summarizes all the clinical manifestations associated with FDXR variants, listed in order of frequency in all the reported cases both from literature and this paper