| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Intellectual Disability, Nonsyndromic (RGR) | Cognitive impairment | Autosomal Recessive | 10q23.1 | Substitution | RGR | c.350G>A | p.Arg117His | Missense | S Riazuddin et al., 2016/2016 |
