| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Marinesco-Sjogren Syndrome (SIL1) | cerebellar ataxia, short stature, MR,cataracts | Autosomal Recessive | 5q31 | Missense | SIL1 | 274C>T | Arg92Trp | Amino Acid Substitution | Riazuddin et al., 2009/2009 |
