| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Mirror Movements 3 (MRMV3, DNAL4) | involuntary movements on one side etc | Autosomal Recessive | 22q13.1 | Splice site | DNAL4 | 153+2T>C | 0/Ahmed et al., 2014 |
