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DOID:0060337 - CEDNIK syndrome
Disease Ontology 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.
Synonyms: cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome
Echinobase Genes
:
snap29
| MIM:609528 - cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a),
syndrome (is_a)