|
1
|
(HPO:0001987)
|
Hyperammonemia |
Very frequent [IBIS]
|
100%(n=12)
|
12801121
|
IBIS
|
50 / 7739
|
|
2
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
Very frequent [IBIS]
|
100%(n=14)
|
12801121
|
IBIS
|
214 / 7739
|
|
3
|
(HPO:0002910)
|
Elevated hepatic transaminases |
Frequent [IBIS]
|
85%(n=13)
|
12801121
|
IBIS
|
158 / 7739
|
|
4
|
(HPO:0001941)
|
Acidosis |
Frequent [IBIS]
|
80%(n=10)
|
12801121
|
IBIS
|
9 / 7739
|
|
5
|
(HPO:0001985)
|
Hypoketotic hypoglycemia |
Frequent [IBIS]
|
69%(n=16)
|
12801121
|
IBIS
|
11 / 7739
|
|
6
|
(HPO:0001252)
|
Muscular hypotonia |
Frequent [IBIS]
|
67%(n=6)
|
12801121
|
IBIS
|
990 / 7739
|
|
7
|
(HPO:0002240)
|
Hepatomegaly |
Frequent [IBIS]
|
61%(n=18)
|
12801121
|
IBIS
|
467 / 7739
|
|
8
|
(HPO:0002098)
|
Respiratory distress |
Frequent [IBIS]
|
61%(n=18)
|
12801121
|
IBIS
|
75 / 7739
|
|
9
|
(HPO:0011675)
|
Arrhythmia |
Frequent [IBIS]
|
57%(n=21)
|
12801121
|
IBIS
|
226 / 7739
|
|
10
|
(HPO:0001638)
|
Cardiomyopathy |
Frequent [IBIS]
|
50%(n=12)
|
12801121
|
IBIS
|
192 / 7739
|
|
11
|
(HPO:0001250)
|
Seizures |
Frequent [IBIS]
|
47%(n=19)
|
12801121
|
IBIS
|
1245 / 7739
|
|
12
|
(HPO:0001254)
|
Lethargy |
Frequent [IBIS]
|
47%(n=17)
|
12801121
|
IBIS
|
104 / 7739
|
|
13
|
(HPO:0001324)
|
Muscle weakness |
|
|
25614308
|
IBIS
|
859 / 7739
|
|
14
|
(HPO:0001714)
|
Ventricular hypertrophy |
|
|
1598097
|
IBIS
|
20 / 7739
|
|
15
|
(HPO:0004756)
|
Ventricular tachycardia |
|
|
1598097
|
IBIS
|
55 / 7739
|
|
16
|
(HPO:0001695)
|
Cardiac arrest |
|
|
12801121
|
IBIS
|
87 / 7739
|
|
17
|
(HPO:0002013)
|
Vomiting |
|
|
1598097
|
IBIS
|
191 / 7739
|
|
18
|
(HPO:0003234)
|
Decreased plasma carnitine |
|
|
1598097
|
IBIS
|
9 / 7739
|
|
19
|
(HPO:0001259)
|
Coma |
|
|
12801121
|
IBIS
|
65 / 7739
|