| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Intellectual Disability, Nonsyndromic (SEPT6) | Cognitive impairment | X Linked | Xq24 | Substitution | SEPT6 | c.257A>G | p.Tyr86Cys | Missense | S Riazuddin et al., 2016/2016 |
