| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Intellectual Disability, Nonsyndromic (CCDC82) | Cognitive impairment | Autosomal Recessive | 11q21 | Delation | CCDC82 | c.373delG | p.Asp125IIefs*6 | Frameshift | S Riazuddin et al., 2016/2016 |
