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Human Disease

CEDNIK syndrome

Term ID
DOID:0060337
Synonyms
  • cerebral dysgenesis, neuropathy, ichthyosis and keratoderma 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. https://www.ncbi.nlm.nih.gov/pubmed/21073448
References
Ontology
Human Disease   ( DOID:0060337 )
Relationships
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Genes Involved
Zebrafish Models