| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Intellectual Disability, Nonsyndromic (UBE2J2) | Cognitive impairment | Autosomal Recessive | 1p36.33 | Delation | UBE2J2 | c.77_78delAA | p.Lys26Argfs*30 | Frameshift | S Riazuddin et al., 2016/2016 |
