Disease

CEDNIK syndrome

Definition
A syndrome that has_material_basis_in homozygous mutation in the SNAP29 gene and characterized by a unique constellation of clinical manifestations including microcephaly, severe neurologic impairment, psychomotor retardation, failure to thrive, facial dysmoprhism, palmoplantar keratoderma and late-onset ichthyosis.
Synonyms
  • cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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    Associated Alleles

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      Associated Models

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