| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Intellectual Disability, Nonsyndromic (MED23) | Cognitive impairment | Autosomal Recessive | 6q23.2 | Substitution | MED23 | c.506A>G | p.Tyr169Cys | Missense | S Riazuddin et al., 2016/2016 |
