| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Intellectual Disability, Nonsyndromic (ZSCAN25/ZNF498) | Cognitive impairment | Autosomal Recessive | Substitution | ZSCAN25 (ZNF498) | c.506A4G | p.(Glu169Gly) | Missense | S Riazuddin et al., 2016/2016 |
