Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder (PFCRD)

Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder, also known as fatty acyl-coa reductase 1 deficiency, is related to rhizomelic chondrodysplasia punctata and rhizomelic chondrodysplasia punctate type 4, and has symptoms including muscle spasticity and seizures. An important gene associated with Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder is FAR1 (Fatty Acyl-CoA Reductase 1). Affiliated tissues include eye and brain, and related phenotypes are intellectual disability and seizure