| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Intellectual Disability, Nonsyndromic (GPAA1) | Cognitive impairment | Autosomal Recessive | 8q24.3 | Substitution | GPAA1 | c.527G>C | p.Trp176Ser | Missense | S Riazuddin et al., 2016/2016 |
