OBO ID: DOID:0060337 |
Term Name: | CEDNIK syndrome | Search Ontology: | |
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Synonyms: |
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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 | ||
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Ontology: | Human Disease ( DOID:0060337 ) |
OTHER CEDNIK syndrome PAGES
ZEBRAFISH MODELS
Fish | Conditions | Citations |
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snap29sa13359/sa13359 | standard conditions | Mastrodonato et al., 2019 |
PHENOTYPE
No data available
CITATIONS (1)
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