|OBO ID: DOID:0060337|
|Term Name:||CEDNIK syndrome||Search Ontology:|
|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|
|Ontology:||Human Disease (DOID:0060337)|
|is a type of:||
OTHER CEDNIK syndrome PAGES
PHENOTYPE No data available
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