" /> Desmosterolosis - CISMeF





Preferred Label : Desmosterolosis;

ICD-11 definition : Desmosterolosis is a cholesterol-biosynthesis disorder characterized by multiple malformations (including dysmorphic facies and cleft palate, and a variety of anomalies) and generalised accumulation of desmosterol.;

ICD-11 synonym : 3-beta-hydroxysterol D-24 reductase deficiency; Desmosterol reductase deficiency;

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

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29/07/2025


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