| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Hereditary neurological disorders (FA2H) | Impaired function of the central or peripheral nervous system due to aberrant electrical impulses | Autosomal Recessive | 16q23.1 | Delation | FA2H | c.159_176del | p.Arg53_Ile58del | Inframe delation | Khan et al., 2022/2022 |
