| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Rubinstein-Taybi syndrome (CREBBP) | Mild to severe ID, broad nasal bridges, beaked noses, short stature, unusually large thumbs and first toes | Autosomal Dominant | 16p13.3 | Missense | CREBBP | c.4571A>G | p.Lys1524Arg | Amino acid Substitution | Hussain et. al. 2023/2023 |
