| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Intellectual Disability, Nonsyndromic (WDR73) | Cognitive impairment | Autosomal Recessive | 15q25.2 | Substitution | WDR73 | c.974T>C | p.Phe325Ser | Missense | S Riazuddin et al., 2016/2016 |
