| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Intellectual Disability, Nonsyndromic (DOCK8) | Cognitive impairment | Autosomal Recessive | 9p24.3 | Substitution | DOCK8 | c.295G>A | p.Glu99Lys | Missense | S Riazuddin et al., 2016/2016 |
