CEDNIK Syndrome

About the Disease
Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome, also known as cednik syndrome, is related to mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma and ichthyosis. 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, eye and brain, and related phenotypes are intellectual disability and ataxia

Common Targets
SNAP29

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