| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Intellectual Disability, Nonsyndromic (DCTN2) | Cognitive impairment | Autosomal Recessive | 12q13.3 | Substitution | DCTN2 | c.173A>C | p.Lys58Thr | Missense | S Riazuddin et al., 2016/2016 |
