|
1
|
(HPO:0000952)
|
Jaundice |
|
|
|
|
105 / 7739
|
|
2
|
(HPO:0001403)
|
Macrovesicular hepatic steatosis |
|
|
|
|
7 / 7739
|
|
3
|
(HPO:0001414)
|
Microvesicular hepatic steatosis |
|
|
|
|
9 / 7739
|
|
4
|
(HPO:0002013)
|
Vomiting |
|
|
|
|
191 / 7739
|
|
5
|
(HPO:0002151)
|
Increased serum lactate |
|
|
|
|
92 / 7739
|
|
6
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
|
7
|
(HPO:0002904)
|
Hyperbilirubinemia |
|
|
|
|
32 / 7739
|
|
8
|
(HPO:0002910)
|
Elevated hepatic transaminases |
|
|
|
|
158 / 7739
|
|
9
|
(HPO:0003128)
|
Lactic acidosis |
|
|
|
|
116 / 7739
|
|
10
|
(HPO:0003256)
|
Abnormality of the coagulation cascade |
|
|
|
|
19 / 7739
|
|
11
|
(HPO:0003270)
|
Abdominal distention |
|
|
|
|
46 / 7739
|
|
12
|
(HPO:0006554)
|
Acute hepatic failure |
|
|
|
|
20 / 7739
|
|
13
|
(HPO:0008872)
|
Feeding difficulties in infancy |
|
|
|
|
153 / 7739
|
|
14
|
(HPO:0200125)
|
Mitochondrial respiratory chain defects |
|
|
|
|
6 / 7739
|
|
15
|
(OMIM)
|
Liver biopsy during acute episode shows variable portal and sinusoidal fibrosis |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Minimal inflammation |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Oncocytic changes |
|
|
|
|
2 / 7739
|
|
18
|
(OMIM)
|
Proliferation of bile ductules |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Focal ballooning of hepatocytes |
|
|
|
|
1 / 7739
|
|
20
|
(HPO:0001396)
|
Cholestasis |
|
|
|
|
136 / 7739
|
|
21
|
(MedDRA:10028851)
|
Necrosis |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
No mtDNA depletion |
|
|
|
|
1 / 7739
|
|
23
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
|
24
|
(OMIM)
|
Pale-gray skin |
|
|
|
|
1 / 7739
|
|
25
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
26
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
27
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
28
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
29
|
(OMIM)
|
COX-depleted fibers |
|
|
|
|
1 / 7739
|
|
30
|
(OMIM)
|
Coagulopathy secondary to liver failure |
|
|
|
|
1 / 7739
|
|
31
|
(HPO:0002908)
|
Conjugated hyperbilirubinemia |
|
|
|
|
21 / 7739
|
|
32
|
(OMIM)
|
Decreased serum albumin |
|
|
|
|
2 / 7739
|
|
33
|
(OMIM)
|
Increased alpha-fetoprotein |
|
|
|
|
5 / 7739
|
|
34
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|