| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Intellectual Disability, Nonsyndromic (DUOX1) | Cognitive impairment | Autosomal Recessive | 15q21.1 | Substitution | DUOX1 | c.3140G>T | p.Cys1047Phe | Missense | S Riazuddin et al., 2016/2016 |
