Sjögren‑Larsson syndrom
Engelsk navn: Sjögren-Larsson syndrome
Engelske synonym: Fatty acid alcohol oxidoreductase deficiency
Definisjon
A rare neurocutaneous disorder caused by an inborn error of lipid metabolism and characterized by congenital ichthyosis, intellectual deficit, and spasticity.
Fra Orphanet
ORPHA: 816
Klassifiseringsnivå: Disorder
ICD-10: Q87.1