| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Intellectual Disability, Nonsyndromic (ARL13B) | Cognitive impairment | Autosomal Recessive | 3q11.1-q11.2 | Substitution | ARL13B | c.599G>A | p.Arg200His | Missense | S Riazuddin et al., 2016/2016 |
