Rhizomelic chondrodysplasia punctata type 3

MONDO:0010823

Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the AGPS gene.

Also known as: AGPS deficiency, alkyldihydroxyacetonephosphate synthase deficiency, alkylglycerone-phosphate synthase deficiency, AGPS rhizomelic chondrodysplasia punctata, RCDP3, rhizomelic chondrodysplasia punctata caused by mutation in AGPS, rhizomelic chondrodysplasia punctata type 3, rhizomelic chondrodysplasia punctata, type 3

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