CEDNIK syndrome(redirected from CEDNIK)
CEDNIK syndromeCerebral dysgenesis, neuropathy, ichthyosis and palmoplantar keratoderma syndrome. An autosomal recessive neurocutaneous syndrome (OMIM:609528) characterised by cerebral dysgenesis, neuropathy, ichthyosis and palmoplantar keratoderma.
Defects of SNAP29, which encodes a protein involved in multiple membrane-trafficking steps, cause CEDNIK syndrome.
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