Catalog

Ataxia due to Marinesco-Sjögren syndrome

No MMS code

Link to WHO Definition

Ataxia due to Marinesco-Sjögren syndrome – http://id.who.int/icd/entity/185656997

Ataxia in the setting of Marinesco-Sjögren syndrome, which is an autosomal recessive disease associated with mutations in the SIL1 gene. The disease is characterized by myopathy, ataxia, and cataracts appearing in early childhood.