| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Sjogren-Larsson Syndrome (SLS) | Ichthyosis, spastic di-or quadriplegia, MR | Autosomal Recessive | 17q | - | - | - | - | - | Lacour et al., 1996/1996 |
