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Genetic and Rare Diseases Information Center (GARD)

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Rhizomelic chondrodysplasia punctata type 2

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Other Names for Rhizomelic chondrodysplasia punctata type 2

  • Chondrodysplasia punctata, rhizomelic, due to dihydroxyacetonephosphate
  • DHAPAT deficiency
  • Dihydroxyacetonephosphate acyltransferase deficiency
  • Peroxisomal dihydroxyacetonephosphate acyltransferase deficiency
  • RCDP2
  • Type 2 rhizomelic chondrodysplasia punctata