Autosomal recessive early-onset ibd

An autosomal recessive condition caused by mutation(s) in the LDLRAP1 gene, encoding low density lipoprotein receptor adaptor protein 1. The phenotype is similar to that of familial hypercholesterolemia, but generally considered to be a milder form of hypercholesterolemia.

Disease Alternative Name

autosomal recessive hypercholesterolemia
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