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Chylomicron retention disease

ORPHA:71· ICD-10 E78.6

Definition

Chylomicron retention disease (CRD) is a type of familial hypocholesterolemia characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and hepatic, neurologic and ophthalmologic complications.

Prevalence
<1 / 1 000 000
Inheritance
Autosomal recessive
Age of onset
Childhood, Infancy