Human genes for CEDNIK syndrome
CEDNIK syndrome [DOID:0060337]
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: CEDNIK syndrome, CEDNIK disease, CEDNIK disorder, CEDNIK syndromes, DOID:0060337 ...