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CEDNIK syndrome

Disease Summary
Associated Targets (1)
Tbio

1


Explore Associated Targets
Mondo Description CEDNIK syndrome is a neurocutaneaous syndrome characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis.
Uniprot Description A neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis and palmoplantar keratoderma.
Disease Ontology Description An autosomal recessive disease 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.
Mondo Term and Equivalent IDs
MONDO:0012290:  CEDNIK syndrome
GARD:0009940: 
MESH:C537943: 
Orphanet:66631: 
SCTID:722385008: 
UMLS:C1836033: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)