| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Jawad Syndrome (CTIP/RBBP8) | Jawad Syndrome | Autosomal Recessive | 18q11.2 | Delation | CTIP/RBBP8 | c.1808-1809delTA | Splice error | Kaygusuz et al., 2021/2021 |
