Sjögren‑Larsson syndrom
Engelsk navn: Sjögren-Larsson syndrome
Engelske synonym: Fatty acid alcohol oxidoreductase deficiency
A rare neurocutaneous disorder caused by an inborn error of lipid metabolism and characterized by congenital ichthyosis, intellectual deficit, and spasticity.
Informasjon
Frambu kompetansesenter for sjeldne diagnoser har kunnskap om diagnosen.
ORPHA: 816
Klassifiseringsnivå: DisorderICD-10: Q87.1