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