achondrogenesis type II

achondrogenesis type II

[MIM*200610] achondrogenesis with autosomal dominant inheritance, caused by mutation in the collagen type II gene (COL2A1) on chromosome 12q. Synonym(s): Langer-Saldino syndrome

a·chon·dro·gen·e·sis type II

(ā-kon-drō-jen'ĕ-sis tīp) Achondrogenesis with autosomal dominant inheritance, caused by mutation in the collagen type II gene (COL2A1) on chromosome 12q.
Synonym(s): Langer-Saldino syndrome.