1. (noun) a rare inherited disorder of fat metabolism; characterized by severe deficiency of beta-lipoproteins and abnormal red blood cells (acanthocytes) and abnormally low cholesterol levels

• congenital disease
• genetic abnormality
• genetic defect
• genetic disease
• genetic disorder
• hereditary condition
• hereditary disease
• inherited disease
• inherited disorder
• hypobetalipoproteinemia
• lipidosis