| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Intellectual Disability, Nonsyndromic (CAPN12^b) | Cognitive impairment | Autosomal Recessive | 19q13.2 | Delation | CAPN12 | c.658_659delAA | p.Asn220Glnfs*25 | Frameshift | S Riazuddin et al., 2016/2016 |
