| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Intellectual Disability, Nonsyndromic (PRKAR2B) | Cognitive impairment | Autosomal Recessive | 7q22.3 | Substitution | PRKAR2B | c.1060G>T | p.Ala354Ser | Missense | S Riazuddin et al., 2016/2016 |
