| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Neuro-ichthyotic Syndrome (ELOVL4) | ichthyosis,quadriplegia,intellectual disability | Autosomal Recessive | 6p14.1 | Nonsense | ELOVL4 | 78C>G | Tyr26* | Premature Termination | Mir et al., 2014/2014 |
