Hypercholesterolemia, familial, 4
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Sign InDescription
Autosomal recessive familial hypercholesterolemia-4 (FCHL4) is a rare monogenic disease characterized by very high levels of low-density lipoprotein (LDL) cholesterol (usually above 400 mg/dl) and increased risk of premature atherosclerotic cardiovascular disease (summary by Sanchez-Hernandez et al., 2018).
Mode of Inheritance
- Autosomal recessive inheritance
VARIANTS
138