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HYPERCHOLANEMIA, FAMILIAL (FHCA)

HYPERCHOLANEMIA, FAMILIAL (FHCA)
607748
OMIM = Online Mendelian Inheritance of Men
238475
Epoxide hydrolase 1
3.3.2.9
1q14.12, 9q21.11, 9q31.1
rare
autosomal recessive
mutation in the EPHX1 gene
Laboratory findings    Bile acids inc (serum)
    Cholesterol inc (serum)
Symptoms    onset, adolescent
    onset, childhood