| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| RBBP8 syndrome (RBBP8) | MCP,ID,skeletal,limb &ectodermal defect | Autosomal Recessive | 18p11.21-q12.1 | Deletion | RBBP8 | 1808_1809delTA | Ile603Lysfs*7 | Frame shift mutation & PTC | Mumtaz et al., 2008/2008 |
| RBBP8 syndrome (RBBP8) | MCP,hyponychia,epilepsy, diabetes, ID | Autosomal Recessive | 18 p11.21-q12.1 | Missense | RBBP8 | 919A>G | Arg307Gly | Amino Acid Substitution | Agha et al., 2014/2014 |
