| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Intellectual Disability, Nonsyndromic (APTX) | Cognitive impairment | Autosomal Recessive | 9p21.1 | Delation | APTX | c.638delG | p.Arg213Leufs*15 | Frameshift | S Riazuddin et al., 2016/2016 |
