| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Hereditary neurological disorders (ECEL1) | Impaired function of the central or peripheral nervous system due to aberrant electrical impulses | Autosomal Recessive | 2q37.1 | Substitution | ECEL1 | c.494T>C | p.Leu165Pro | Missense | Khan et al., 2022/2022 |
