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HYPOBETALIPOPROTEINEMIA, FAMILIAL, 2 (FHBL2)

HYPOBETALIPOPROTEINEMIA, FAMILIAL, 2 (FHBL2)
HYPOLIPIDEMIA, FAMILIAL, COMBINED
615019
OMIM = Online Mendelian Inheritance of Men
Angiopoietin-related protein 3
1p31.3
very rare
autosomal recessive
mutation in the ANGPTL3 gene
Laboratory findings    HDL-Cholesterol dec (plasma)
    LDL-Cholesterol dec (plasm)
    Triglycerides dec (serum)
Symptoms    onset, adolescent
    onset, childhood
    onset, infancy