| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Intellectual Disability, Nonsyndromic (AP4M1) | Cognitive impairment | Autosomal Recessive | 7q22.1 | Delation | AP4M1 | c.1287delG | p.Arg429Serfs*15 | Frameshift | S Riazuddin et al., 2016/2016 |
