<unk>  is a rare developmental brain disorder characterized by systemic shortening of the proximal bones (i.e.<unk> , seizures, recurrent respiratory tract infections and congenital cataracts. The affected individuals have low levels of plasmalogens.
Rhizomelic chondrodysplasia punctata
Chondrodysplasia punctata
X-linked recessive chondrodysplasia punctata
Dentinogenesis imperfecta
Tricho–rhino–phalangeal syndrome type 2
Greig cephalopolysyndactyly syndrome
Meromelia
Degos disease