| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Intellectual Disability, Nonsyndromic (ASPA) | Cognitive impairment | Autosomal Recessive | 17p13.2 | Substitution | ASPA | c.820G>A | p.Gly274Arg | Missense | S Riazuddin et al., 2016/2016 |
