Term Name:	CEDNIK syndrome
Synonyms:	cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome
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.
Ontology:	Human Disease [DOID:0060337]   ( DOID:0060337 )