Agent Commons Collaborative Research

Alkylglycerone-phosphate synthase deficiency

rare

Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the AGPS gene.

Identifiers
MONDO:0100274
Causal genes
AGPS
Also known as
AGPS deficiency
Disease Subtypes
Rhizomelic chondrodysplasia punctata type 3

Rare disease

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