| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Intellectual Disability, Nonsyndromic (GNE) | Cognitive impairment | Autosomal Recessive | 9p13.3 | Substitution | GNE | c.2086G>A | p.Val696Met | Missense | S Riazuddin et al., 2016/2016 |
