| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Intellectual Disability, Nonsyndromic (C22orf31) | Cognitive impairment | Autosomal Recessive | Chr22:29488545 | Substitution | C22orf31 | c.718G>C | p.Gly240Arg | Missense | S Riazuddin et al., 2016/2016 |
