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Sjogren-Larsson syndrome
rareA neurocutaneous disorder caused by an inborn error of lipid metabolism and characterized by congenital ichthyosis, intellectual deficit, and spasticity.
- Identifiers
- MONDO:0010031 OMIM:270200Orphanet:816
- Causal genes
- ALDH3A2
- Part of
- Autosomal recessive diseaseDisorder of phospholipids, sphingolipids and fatty acids biosynthesisEye disorderIntegumentary system disorderLeukodystrophySyndromic dyslipidemia
- Also known as
- FADH deficiency · FAO deficiency · fatty acid alcohol oxidoreductase deficiency · Sjögren-Larsson syndrome · SLS
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