Sjogren-Larsson syndrome
A neurocutaneous disorder caused by an inborn error of lipid metabolism and characterized by congenital ichthyosis, intellectual deficit, and spasticity.
MONDO:0002051
integumentary system disorder
is_a
MONDO:0005328
eye disorder
is_a
MONDO:0006025
autosomal recessive disease
is_a
MONDO:0015905
syndromic dyslipidemia
is_a
MONDO:0018117
disorder of phospholipids, sphingolipids and fatty acids biosynthesis
is_a
MONDO:0019046
leukodystrophy
is_a
FADH deficiency
related
FAO deficiency
related
SLS
exact
Senior-Løken Syndrome
exact
Sjogren-Larsson syndrome
exact
Sjögren-Larsson syndrome
related
fatty acid alcohol oxidoreductase deficiency
exact