Free sialic acid storage disease

Orpha code: 834OMIM code: 604369

Definicja

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).

Disease data
Klasyfikacja

Disease

Kod ORPHA
834
Kod OMIM
604369
Kod ICD10
E77.8
Kod ICD11
5C56.4

No additional description.

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