| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Charcot-Marie-Tooth (CMT4F) | Sensory neuropathies, muscular atrophies, abnormal sensory conduction velocities, and ataxia | Autosomal Recessive | 19q13.2 | Substitution | PRX | c.231C>A | p.Arg77Ter | Missense | Zaman et al., 2023/2023 |
