| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Intellectual Disability, Nonsyndromic (ASPM) | Cognitive impairment | Autosomal Recessive | 1q31.3 | Substitution | ASPM | c.3977G>A | p.Trp1326* | Nonsense | S Riazuddin et al., 2016/2016 |
