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Disease Ontology Browser
CEDNIK syndrome (DOID:0060337)
Synonyms: cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome
Alt IDs: OMIM:609528, MESH:C537943, ORDO:66631, UMLS_CUI:C1836033
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.

Disease References using Mouse Models (1)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
09/12/2017
MGI 6.10
The Jackson Laboratory