| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Ataxia/Dystonia(ATCAY) | dystonic signs,generalized dystonia | Autosomal Recessive | 19p13.3 | Frameshift Mutation | ATCAY | 599_605del | Pro200Profs*20 | Deletion | 0/Manzoor H et.al.,,,2018 |
