| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Intellectual Disability, Nonsyndromic (SPG11) | Cognitive impairment | Autosomal Recessive | 15q21.1 | Delation | SPG11 | c.5769delT | p.Ser1923Argfs*28 | Frameshift | S Riazuddin et al., 2016/2016 |
