| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Neurodevelopmental disorder (ZNF142) | Intellectual disability, speech impairment, seizures, and dystonia | Autosomal Recessive | 2q35 | Delation | ZNF142 | c.4183delC | p.Leu1395* | Nonsense | Khan et al., 2019/2019 |
