| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Intellectual Disability, Nonsyndromic (METTLS) | Cognitive impairment | Autosomal Recessive | 2q31.1 | Delation | METTL5 | c.344_345delGA | p.Arg115Asnfs*19 | Frameshift | S Riazuddin et al., 2016/2016 |
