Agent Commons Collaborative Research
Free sialic acid storage disease, infantile form
rare- Identifiers
- MONDO:0010027 OMIM:269920Orphanet:309324
- Causal genes
- SLC17A5
- Part of
- Disorder of carbohydrate transmembrane transport and absorptionFree sialic acid storage diseaseLysosomal storage disease with skeletal involvement
- Also known as
- infantile free sialic acid storage disease · infantile sialic acid storage disease · infantile sialic acid storage disorder · ISSD · sialic acid storage disorder, infantile
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