| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Neurodevelopmental disorder (AP1G1) | Neurodevelopmental disorder (NDD), mild to severe ID, epilepsy, and developmental delay | Autosomal Recessive | 16q22.2 | Substitution | AP1G1 | c.1105A>G | p.Met369Val | Missense | Usmani et al., 2021/2021 |
