This condition is a consequence of mutations in the PEX7 gene, the GNPAT gene (which is located on chromosome 1) or the AGPS gene. The condition is acquired in an autosomal recessive manner.
Rhizomelic chondrodysplasia punctata
Chondrodysplasia punctata
X-linked recessive chondrodysplasia punctata
Dentinogenesis imperfecta
Tricho–rhino–phalangeal syndrome type 2
Greig cephalopolysyndactyly syndrome
Meromelia
Degos disease