| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Hereditary neurological disorders (CYP27A1) | Impaired function of the central or peripheral nervous system due to aberrant electrical impulses | Autosomal Recessive | 2q35 | Substitution | CYP27A1 | c.1183C>T | p.Arg395Cys | Missense | Khan et al., 2022/2022 |
