| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Intellectual Disability, Nonsyndromic (GLB1) | Cognitive impairment | Autosomal Recessive | 3p22.3 | Substitution | GLB1 | c.C1318T | p.His440Tyr | Missense | Ilyas M et al., 2020/2020 |
