| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Hennekam Syndrome (CCBE1) | lymphatic dysplasia, MR, dysmorphic features | Autosomal Recessive | 18q21.32 | Missense | CCBE1 | 294 T>G | Cys98Trp | Amino Acid Substitution | Frosk et al., 2015/2015 |
| Hennekam Syndrome 1 (CCBE1) | lymphatic dysplasia,MR,dysmorphism | Autosomal Recessive | 18q21.32 | Missense | CCBE1 | 294 T>G | Cys98Trp | Amino Acid Substitution | Frosk et al., 2015/2015 |
