| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Intellectual Disability, Nonsyndromic (VPS53) | Cognitive impairment | Autosomal Recessive | 17p13.3 | Substitution | VPS53 | c. C605T | p.Pro202Leu | Missense | Ilyas M et al., 2020/2020 |
