CEDNIK syndrome
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. [ http://purl.obolibrary.org/obo/ECO_0007645 ]
Term info
CEDNIK syndrome
- cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome
DO_FlyBase_slim, DO_rare_slim
Flybase.
emitraka
2015-05-11T10:31:37Z
disease_ontology
DOID:0060337