Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome (CEDNIK)

Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome, also known as cednik syndrome, is related to mednik syndrome and chromosome 22q11.2 deletion syndrome, distal. An important gene associated with Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome is SNAP29 (Synaptosome Associated Protein 29), and among its related pathways/superpathways are Vesicle-mediated transport and Golgi-to-ER retrograde transport. Affiliated tissues include skin and eye, and related phenotypes are intellectual disability and ataxia