Free sialic acid storage disease

Orpha code: 834OMIM code: 604369

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).

Disease data
Classification

Disease

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

No additional description.

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