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CEDNIK syndrome

Pathology: - neurocutaneous syndrome Genetics: - associated with defects in SNAP29 Clinical manifestations: - cerebral dysgenesis - neuropathy - ichthyosis - palmoplantar keratoderma

General

genetic syndrome (multisystem disorder)

Database Correlations

OMIM 609528

References

  1. UniProt :accession O95721
  2. OMIM :accession 609528