Variants
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Hypercholesterolemia, familial, 4

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Description

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).

OMIM

  • Mode of Inheritance

  • Autosomal recessive inheritance

VARIANTS

138

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Genes

External Links

  • OMIM

    603813

  • Orphanet
  • HPO
  • Medgen

    C1863512

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