| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Intellectual Disability, Nonsyndromic (GGN) | Cognitive impairment | Autosomal Recessive | 19q13.2 | Substitution | GGN | c.79C>T | p.Arg27Cys | Missense | S Riazuddin et al., 2016/2016 |
