Genetic and Rare Diseases Information Center (GARD)


Other names people use for this condition
  • RCDP2
  • Dihydroxyacetonephosphate acyltransferase deficiency
  • DHAPAT deficiency
  • Peroxisomal dihydroxyacetonephosphate acyltransferase deficiency
  • Type 2 rhizomelic chondrodysplasia punctata
  • Glyceronephosphate acyltransferase deficiency
  • GNPAT deficiency
  • Chondrodysplasia punctata, rhizomelic, due to DHAPAT deficiency
  • Human dihydroxyacetonephosphate acyltransferase deficiency

Rhizomelic chondrodysplasia punctata, type 2
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