| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Intellectual Disability, Nonsyndromic (KCNA2) | Cognitive impairment | Autosomal Recessive | 1p13.3 | Substitution | KCNA2 | c.193C>T | p.Arg65* | Nonsense | S Riazuddin et al., 2016/2016 |
