Ichthyosis, spastic quadriplegia, and mental retardation
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome | 352333 | ELOVL4 | Causal Pathogenic evidence from ClinVar | - | ClinVar |
| ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION | C3280856 | ELOVL4 | Causal Pathogenic evidence from ClinVar | 22100072 | ClinVar |