| 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 |