| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Intellectual Disability, Nonsyndromic (AP4B1) | Cognitive impairment | Autosomal Recessive | 1p13.2 | Dup | AP4B1 | c.968dupC | p.S323fs | Frameshift | Jamshed Khan, et al. 2019/2019 |
