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 |