| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Costeff Optic Atrophy Syndrome (OPA3) | Dystonia,Subtle choreiform &myoclonic etc | Autosomal Recessive | 19q13.32 | Missense | OPA3 | 32T>A | Leu11Gln | Amino Acid Substitution | Arif et al., 2013/2013 |
