| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Intellectual Disability, Nonsyndromic (FRY) | Cognitive impairment | Autosomal Recessive | 13q13.1 | Substitution | FRY | c.2281G>A | p.Val761IIe | Missense | S Riazuddin et al., 2016/2016 |
