free sialic acid storage disease, infantile form

Findings

No curated finding names free sialic acid storage disease, infantile form yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

Where it sits

A kind of

• disorder of carbohydrate transmembrane transport and absorption
• free sialic acid storage disease
• lysosomal storage disease with skeletal involvement

Resolves to: free sialic acid storage disease, infantile form

Also called

ISSDsialic acid storage disorder, infantile