| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Intellectual Disability, Nonsyndromic (SRD5A3) | Cognitive impairment | Autosomal Recessive | 4q12 | Substitution | SRD5A3 | c.57G>A | p.Trp19* | Nonsense | S Riazuddin et al., 2016/2016 |
