Sialidosis

external

• Synonyms

  • Cherry-red-spot-myoclonus disease
  • NEU gene mutation
  • Alpha-N-acetyl neuraminidase deficiency
  • Sialidase deficiency
  • Oligosaccharide deposition disorder

• Effects

  • Cherry-red spot
  • Night blindness
  • Nystagmus
  • Myoclonus
  • Congenital skeletal dysplasia
  • Progressive myoclonic epilepsy
  • Congenital cataract

• Parents

  • Mucolipidosis
  • Glycoproteinosis

• Description

  • "6p21.3 Also calssified as glycoproteinosis"