| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Intellectual Disability, Nonsyndromic (MEGF9) | Cognitive impairment | Autosomal Recessive | 9q33.2 | Substitution | MEGF9 | c.686G>A | p.Gly229Asp | Missense | S Riazuddin et al., 2016/2016 |
