| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Ataxia/Dystonia(MCOLN1) | sensory de?cits,spasticity | Autosomal Recessive | 19p13.2 | Missense Mutation | MCOLN1 | 551T>C | Ile184Thr | Amino acid substitution | 0/Manzoor H et.al.,,,2018 |
