|
1
|
(MedDRA:10072656)
|
Very long-chain acyl-coenzyme A dehydrogenase deficiency |
Very frequent [IBIS]
|
|
7479827
|
IBIS
|
1 / 7739
|
|
2
|
(HPO:0003819)
|
Death in childhood |
Frequent [IBIS]
|
80% (n=25)
|
9973285
|
IBIS
|
42 / 7739
|
|
3
|
(HPO:0002240)
|
Hepatomegaly |
Frequent [IBIS]
|
61% (n=54)
|
9973285
|
IBIS
|
467 / 7739
|
|
4
|
(HPO:0008947)
|
Infantile muscular hypotonia |
Frequent [IBIS]
|
57% (n=46)
|
9973285
|
IBIS
|
482 / 7739
|
|
5
|
(HPO:0001638)
|
Cardiomyopathy |
Frequent [IBIS]
|
52% (n=54)
|
9973285
|
IBIS
|
192 / 7739
|
|
6
|
(HPO:0001252)
|
Muscular hypotonia |
Frequent [IBIS]
|
50% (n=54)
|
9973285
|
IBIS
|
990 / 7739
|
|
7
|
(HPO:0001985)
|
Hypoketotic hypoglycemia |
Occasional [IBIS]
|
30% (n=54)
|
9973285
|
IBIS
|
11 / 7739
|
|
8
|
(HPO:0003201)
|
Rhabdomyolysis |
Occasional [IBIS]
|
20% (n=54)
|
9973285
|
IBIS
|
27 / 7739
|
|
9
|
(HPO:0002913)
|
Myoglobinuria |
Occasional [IBIS]
|
20% (n=54)
|
9973285
|
IBIS
|
22 / 7739
|
|
10
|
(HPO:0001324)
|
Muscle weakness |
|
|
7769092
|
IBIS
|
859 / 7739
|
|
11
|
(HPO:0001254)
|
Lethargy |
|
|
24503138
|
IBIS
|
104 / 7739
|
|
12
|
(HPO:0001397)
|
Hepatic steatosis |
|
|
24044064
|
IBIS
|
75 / 7739
|
|
13
|
(HPO:0001404)
|
Hepatocellular necrosis |
|
|
24044064
|
IBIS
|
4 / 7739
|
|
14
|
(HPO:0001639)
|
Hypertrophic cardiomyopathy |
|
|
24503138
|
IBIS
|
137 / 7739
|
|
15
|
(HPO:0001645)
|
Sudden cardiac death |
|
|
7479827
|
IBIS
|
84 / 7739
|
|
16
|
(HPO:0002013)
|
Vomiting |
|
|
24503138
|
IBIS
|
191 / 7739
|
|
17
|
(HPO:0002789)
|
Tachypnea |
|
|
24044064
|
IBIS
|
48 / 7739
|
|
18
|
(HPO:0003215)
|
Dicarboxylic aciduria |
|
|
24044064
|
IBIS
|
7 / 7739
|
|
19
|
(HPO:0003234)
|
Decreased plasma carnitine |
|
|
7769092
|
IBIS
|
9 / 7739
|
|
20
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
7769092
|
IBIS
|
214 / 7739
|
|
21
|
(HPO:0008305)
|
Exercise-induced myoglobinuria |
|
|
9973285
|
IBIS
|
7 / 7739
|
|
22
|
(HPO:0001695)
|
Cardiac arrest |
|
|
7479827
|
IBIS
|
87 / 7739
|
|
23
|
(OMIM)
|
Decreased very long-chain acyl-CoA dehydrogenase protein and activity |
|
|
7769092
|
IBIS
|
1 / 7739
|
|
24
|
(HPO:0001944)
|
Dehydration |
|
|
24503138
|
IBIS
|
59 / 7739
|
|
25
|
(HPO:0002014)
|
Diarrhea |
|
|
24503138
|
IBIS
|
225 / 7739
|
|
26
|
(HPO:0000737)
|
Irritability |
|
|
24503138
|
IBIS
|
93 / 7739
|
|
27
|
(HPO:0011968)
|
Feeding difficulties |
|
|
24503138
|
IBIS
|
240 / 7739
|
|
28
|
(HPO:0000112)
|
Nephropathy |
|
|
24503138
|
IBIS
|
92 / 7739
|
|
29
|
(HPO:0001298)
|
Encephalopathy |
|
|
9973285
|
IBIS
|
72 / 7739
|
|
30
|
(HPO:0040187)
|
Neonatal sepsis |
|
|
24503138
|
IBIS
|
1 / 7739
|
|
31
|
(HPO:0001399)
|
Hepatic failure |
|
|
24044064
|
IBIS
|
80 / 7739
|
|
32
|
(HPO:0001640)
|
Cardiomegaly |
|
|
7769092
|
IBIS
|
81 / 7739
|
|
33
|
(HPO:0011675)
|
Arrhythmia |
|
|
7769092
|
IBIS
|
226 / 7739
|
|
34
|
(HPO:0003198)
|
Myopathy |
|
|
24503138
|
IBIS
|
151 / 7739
|
|
35
|
(HPO:0003326)
|
Myalgia |
|
|
7769092
|
IBIS
|
143 / 7739
|
|
36
|
(HPO:0002480)
|
Hepatic encephalopathy |
|
|
7479827
|
IBIS
|
6 / 7739
|
|
37
|
(HPO:0003756)
|
Skeletal myopathy |
|
|
24044064
|
IBIS
|
8 / 7739
|
|
38
|
(HPO:0003323)
|
Progressive muscle weakness |
|
|
7769092
|
IBIS
|
17 / 7739
|
|
39
|
(OMIM)
|
Increased long-chain acylcarnitine |
|
|
24044064
|
IBIS
|
2 / 7739
|