| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Intellectual Disability, Nonsyndromic (MKKS) | Cognitive impairment | Autosomal Recessive | 20p12.2 | Delation | MKKS | c.775delA | p.Thr259Leufs*21 | Frameshift | S Riazuddin et al., 2016/2016 |
