OBO ID: DOID:0060337
Term Name: CEDNIK syndrome Search Ontology:
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)
OTHER CEDNIK syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SNAP29 Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome 609528
ZEBRAFISH MODELS
Fish Conditions Citations
snap29sa13359/sa13359 standard conditions Mastrodonato et al., 2019
PHENOTYPE No data available

CITATIONS (1)