| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Intellectual Disability, Nonsyndromic (WFDC1) | Cognitive impairment | Autosomal Recessive | 16q24.1 | Substitution | WFDC1 | c.634G>A | p.Gly212Arg | Missense | S Riazuddin et al., 2016/2016 |
