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free sialic acid storage disease, infantile form

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Uniprot Description Severe form of sialic acid storage disease. Affected newborns exhibit visceromegaly, coarse features and failure to thrive immediately after birth. These patients have a shortened life span, usually less than 2 years.
Mondo Term and Equivalent IDs
MONDO:0010027:  free sialic acid storage disease, infantile form
GARD:0000175: 
Orphanet:309324: 
SCTID:34566007: