Summary Literature (0)

DOID:0060337 - CEDNIK syndrome

Disease Ontology Definition: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.

Synonyms: cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome,

Echinobase Genes : snap29


OMIM:

MIM:609528 - cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee