Human genes for chylomicron retention disease
Chylomicron retention disease [DOID:0060357]
A lipid metabolism disorder characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and the absence of chylomicrons and apolipoprotein B48 post-prandially. It has an autosomal recessive inheritance pattern and has_material_basis_in mutations in the SAR1B gene on chromosome 5q31.1.
Synonyms: chylomicron retention disease, DOID:0060357, chylomicron retention disorder, chylomicron retention syndrome, chylomicron retention diseases ...