Rhizomelic Chondrodysplasia Punctata, Type 1 (RCDP1)

Rhizomelic Chondrodysplasia Punctata, Type 1, also known as rhizomelic chondrodysplasia punctata type 1, is related to rhizomelic chondrodysplasia punctata, type 3 and peroxisome biogenesis disorder 1a, and has symptoms including muscle spasticity and seizures. An important gene associated with Rhizomelic Chondrodysplasia Punctata, Type 1 is PEX7 (Peroxisomal Biogenesis Factor 7), and among its related pathways/superpathways are Metabolism and Fatty acid metabolism. The drugs Glycerin and Coconut have been mentioned in the context of this disorder. Affiliated tissues include bone and eye, and related phenotypes are intellectual disability and seizure