| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Intellectual Disability, Nonsyndromic (ZNF41) | Cognitive impairment | X Linked | Xp11.3 | Substitution | ZNF41 | c.94G>A | p.Val32Met | Missense | S Riazuddin et al., 2016/2016 |
