| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Intellectual Disability, Nonsyndromic (DGCR8) | Cognitive impairment | Autosomal Recessive | 22q11.21 | Substitution | DGCR8 | c.380G4A | p.(Ser127Asn) | Missense | S Riazuddin et al., 2016/2016 |
