Catalog

Desmosterolosis

No MMS code

Link to WHO Definition

Desmosterolosis – http://id.who.int/icd/entity/2108931494

Desmosterolosis is a cholesterol-biosynthesis disorder characterised by multiple malformations (including dysmorphic facies and cleft palate, and a variety of anomalies) and generalised accumulation of desmosterol.