| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Neurodevelopmental Syndrome (HACE1) | ID, spasticity and abnormal gait | Autosomal Recessive | 6q16.3 | Nonsense | HACE1 | 655C>T | Arg219* | Premature Termination | Hollstein et al., 2015/2015 |
