Mondo Description Any hypobetalipoproteinemia in which the cause of the disease is a mutation in the APOB gene.

Uniprot Description A disorder of lipid metabolism characterized by less than 5th percentile age- and sex-specific levels of low density lipoproteins, and dietary fat malabsorption. Clinical presentation may vary from no symptoms to severe gastrointestinal and neurological dysfunction similar to abetalipoproteinemia.