1
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
22989098
|
IBIS
|
990 / 7739
|
2
|
(HPO:0001324)
|
Muscle weakness |
|
|
22989098
|
IBIS
|
859 / 7739
|
3
|
(HPO:0001254)
|
Lethargy |
|
|
22989098
|
IBIS
|
104 / 7739
|
4
|
(HPO:0001259)
|
Coma |
|
|
22989098
|
IBIS
|
65 / 7739
|
5
|
(HPO:0001397)
|
Hepatic steatosis |
|
|
22989098
|
IBIS
|
75 / 7739
|
6
|
(HPO:0001508)
|
Failure to thrive |
|
|
23379544
|
IBIS
|
454 / 7739
|
7
|
(HPO:0001635)
|
Congestive heart failure |
|
|
17594400
|
IBIS
|
232 / 7739
|
8
|
(HPO:0001639)
|
Hypertrophic cardiomyopathy |
|
|
18337137
|
IBIS
|
137 / 7739
|
9
|
(HPO:0001640)
|
Cardiomegaly |
|
|
16602102
|
IBIS
|
81 / 7739
|
10
|
(HPO:0001987)
|
Hyperammonemia |
|
|
22989098
|
IBIS
|
50 / 7739
|
11
|
(HPO:0001988)
|
Recurrent hypoglycemia |
|
|
22989098
|
IBIS
|
6 / 7739
|
12
|
(HPO:0002240)
|
Hepatomegaly |
|
|
22989098
|
IBIS
|
467 / 7739
|
13
|
(HPO:0002910)
|
Elevated hepatic transaminases |
|
|
22989098
|
IBIS
|
158 / 7739
|
14
|
(HPO:0005959)
|
Impaired gluconeogenesis |
|
|
17926086
|
IBIS
|
4 / 7739
|
15
|
(HPO:0001644)
|
Dilated cardiomyopathy |
|
|
22989098
|
IBIS
|
141 / 7739
|
16
|
(HPO:0003756)
|
Skeletal myopathy |
|
|
22989098
|
IBIS
|
8 / 7739
|
17
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
22989098
|
IBIS
|
214 / 7739
|
18
|
(HPO:0003388)
|
Easy fatigability |
|
|
22989098
|
IBIS
|
34 / 7739
|
19
|
(HPO:0001985)
|
Hypoketotic hypoglycemia |
|
|
22989098
|
IBIS
|
11 / 7739
|
20
|
(HPO:0002480)
|
Hepatic encephalopathy |
|
|
22989098
|
IBIS
|
6 / 7739
|
21
|
(HPO:0011675)
|
Arrhythmia |
|
|
22989098
|
IBIS
|
226 / 7739
|
22
|
(HPO:0008872)
|
Feeding difficulties in infancy |
|
|
16602102
|
IBIS
|
153 / 7739
|
23
|
(HPO:0002919)
|
Ketonuria |
|
|
16602102
|
IBIS
|
18 / 7739
|
24
|
(HPO:0006582)
|
Reye syndrome-like episodes |
|
|
18337137
|
IBIS
|
5 / 7739
|
25
|
(HPO:0003234)
|
Decreased plasma carnitine |
|
|
17926086
|
IBIS
|
9 / 7739
|
26
|
(HPO:0030362)
|
Reduced muscle carnitine level |
|
|
15591002
|
IBIS
|
2 / 7739
|
27
|
(HPO:0045061)
|
Decreased carnitine level in liver |
|
|
15591002
|
IBIS
|
1 / 7739
|