Disease : Rhizomelic chondrodysplasia punctata type 2 (RCDP2)

Name : Rhizomelic chondrodysplasia punctata type 2 (RCDP2)
Description : Defects that involve alkyl DHAP synthase and alkyl DHAP transferase. Symptoms: Deficient plasmalogen levels in all tissues, including erythrocytes. Symptoms are associated with the clinical manifestations of rhizomelic chondrodysplasia punctata.
Gene(s) :
Localization(s) :
  • Peroxisome
Functional category(ies) :
Links of Interest: