It is associated with a mutation of a phenylalanine to leucine in SEC23A.
Thanatophoric dysplasia | thanatophoric dysplasia | Spondyloepimetaphyseal dysplasia | spondyloepimetaphyseal dysplasia | Hip dysplasia (human) | Hip dysplasia (disambiguation) | Hip dysplasia | hip dysplasia | Fibromuscular Dysplasia Society of America | Fibromuscular dysplasia |