|
1
|
(HPO:0001395)
|
Hepatic fibrosis |
|
|
|
|
67 / 7739
|
|
2
|
(HPO:0001397)
|
Hepatic steatosis |
|
|
|
|
75 / 7739
|
|
3
|
(HPO:0001744)
|
Splenomegaly |
rare [HPO:skoehler]
|
|
|
|
337 / 7739
|
|
4
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
|
5
|
(HPO:0002910)
|
Elevated hepatic transaminases |
|
|
|
|
158 / 7739
|
|
6
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
7
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
|
8
|
(OMIM)
|
Septal formation |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Hypertriglyceridemia, transient |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Increased urinary dicarboxylic acid, transient |
|
|
|
|
1 / 7739
|
|
11
|
(HPO:0003124)
|
Hypercholesterolemia |
|
|
|
|
53 / 7739
|
|
12
|
(OMIM)
|
Abnormal serum lipoprotein levels (in 3 of 10 patients) |
|
|
|
|
1 / 7739
|
|
13
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
14
|
(HPO:0002155)
|
Hypertriglyceridemia |
|
|
|
|
67 / 7739
|
|
15
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|