| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Intellectual Disability SLC9A6 | Intellectual developmental disorder | X linked | Xq26.3 | Substitution | SLC9A6 | c.1342G>A | p.Gly448Arg | Missense | Hussain et al, 2023/2023 |
