label: Rhizomelic Chondrodysplasia Punctata
label_lc: rhizomelic chondrodysplasia punctata
description: "An autosomal recessive inherited peroxisomal disorder caused by mutations in the PEX7, DHAPAT, and AGP genes. It is characterized by short limbs, bones and cartilage abnormalities, congenital cataracts, and severe mental retardation."