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. |
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