Rhizomelic Chondrodysplasia Punctata, Type 5 (RCDP5)

Rhizomelic Chondrodysplasia Punctata, Type 5, also known as rhizomelic chondrodysplasia punctata type 5, is related to rhizomelic chondrodysplasia punctata and rhizomelic chondrodysplasia punctata, type 2. An important gene associated with Rhizomelic Chondrodysplasia Punctata, Type 5 is PEX5 (Peroxisomal Biogenesis Factor 5), and among its related pathways/superpathways are Peroxisomal lipid metabolism and Protein ubiquitination. Affiliated tissues include bone and eye, and related phenotypes are seizure and global developmental delay