Peroxisomal enzyme deficiency in the Conradi-Hunerman form of chondrodysplasia punctata.
D000217:Acyltransferases / Q000172:deficiency*; D002806:Chondrodysplasia Punctata / Q000201:enzymology*; D005260:Female; D006801:Humans; D007223:Infant; D008830:Microbodies / Q000201:enzymology
D000217:Acyltransferases; C020051:glycerone-phosphate O-acyltransferase