Disease ID | Source | Name | Description |
609528 | OMIM | Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (CEDNIK) | A neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis and palmoplantar keratoderma. The disease is caused by variants affecting the gene represented in this entry. |