| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Intellectual Disability, Nonsyndromic (METTL4) | Cognitive impairment | Autosomal Recessive | 18p11.32 | Substitution | METTL4 | c.588C>A | p.Cys196* | Nonsense | S Riazuddin et al., 2016/2016 |
