achondrogenesis type II
Definition: achondrogenesis with autosomal dominant inheritance, caused by mutation in the collagen type II gene (COL2A1) on chromosome 12q.
Synonym(s): Langer-Saldino syndrome
Always consult your healthcare provider to ensure the information displayed on this page applies to your personal circumstances.
© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.