| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Intellectual Disability, Nonsyndromic (AREL1) | Cognitive impairment | Autosomal Recessive | 14q24.3 | Substitution | AREL1 | c.277C>T | p.His93Tyr | Missense | S Riazuddin et al., 2016/2016 |
