| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Intellectual Disability, Nonsyndromic (MDGA2) | Cognitive impairment | Autosomal Recessive | 14q21.3 | Substitution | MDGA2 | c.2232A>G | p.Arg744Arg | Abberant Splicing | S Riazuddin et al., 2016/2016 |
