| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Intellectual Disability, Nonsyndromic (PUS7) | Cognitive impairment | Autosomal Recessive | 7q22.3 | Delation | PUS7 | c.89_90delCA | p.Thr30Lysfs*20 | Frameshift | S Riazuddin et al., 2016/2016 |
