OnlineIMD
Rhizomelic chondrodysplasia punctata
Type
Disease
External link(s)
Orphanet
Associated genes
Gene list
PEX7
Peroxisomal targeting signal 2 receptor deficiency
GNPAT
Glycerone 3-phosphate acyltransferase deficiency
AGPS
Alkylglycerone 3-phosphate synthase deficiency
PEX5
Peroxin 5 deficiency
Disease group(s)
14.5.3 Disorders of ether lipid metabolism