familial hypobetalipoproteinemia 2

A hypobetalipoproteinemia that has_material_basis_in homozygous or compound heterozygous mutation in the ANGPTL3 gene on chromosome 1p31.

Signs and symptoms

• Decreased circulating LDL-C concentration
• Hypotriglyceridemia

Also known as: FHBL2; combined familial hypolipidemia