Chondrodysplasia Punctata, Brachytelephalangic, Autosomal (BCDP)

Chondrodysplasia Punctata, Brachytelephalangic, Autosomal, also known as brachytelephalangic chondrodysplasia punctata, is related to x-linked chondrodysplasia punctata 1 and chondrodysplasia punctata 1, x-linked recessive. An important gene associated with Chondrodysplasia Punctata, Brachytelephalangic, Autosomal is ARSL (Arylsulfatase L). Affiliated tissues include bone and spinal cord, and related phenotypes are short nose and short distal phalanx of finger