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Free sialic acid storage disease

Disease definition

Free sialic acid storage disease (free SASD), is a group of lysosomal storage diseases characterized by a spectrum of clinical manifestations including neurological and developmental disorders with severity ranging from the milder phenotype, Salla disease (SD), to the most severe phenotype, infantile free sialic acid storage disease (ISSD).

ORPHA:834

  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E77.8
  • OMIM: 269920  604369
  • UMLS: C0342853  C2931872
  • MeSH: C538523
  • GARD: 10870
  • MedDRA: 10067529  10067531

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