GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version
CEDNIK Syndrome  
Disease Aliases (6)

Cednik (cerebral dysgenesis, neuropathy, ichthyosis, keratoderma) syndrome

Cednik syndrome

Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome

Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome

Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome

Cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome

Associated Genes (1)
 

NCBI-RefSeq:  SNAP29   (Synaptosome associated protein 29)

External Links:  gnomAD browser   Ensembl   GeneCards

 


Cross-references of CEDNIK syndrome OMIM GARD Orphanet NCBI-GTR NCBI-MedGen MalaCards      MeSH Annotations