| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Autosomal recessive spinocerebellar ataxia-13 (SCAR13) | Progressive cerebellar ataxia, cognitive deficiencies, and skeletal and oculomotor abnormalities | Autosomal Recessive | 6q24.3 | Substitution | GRM1 | c.718G>T | p. Gly240* | Nonsense | Yousaf et al., 2022/2022 |
