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Marinesco-Sjögren syndrome

Disease definition

Marinesco-Sjögren syndrome (MSS) belongs to the group of autosomal recessive cerebellar ataxias. Cardinal features of MSS are cerebellar ataxia, congenital cataract, and delayed psychomotor development.


Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Childhood
  • ICD-10: G11.1
  • OMIM: 248800
  • UMLS: C0024814
  • MeSH: -
  • GARD: 8341
  • MedDRA: -

Detailed information


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