|
1
|
(HPO:0008872)
|
Feeding difficulties in infancy |
Frequent [IBIS]
|
90% (n=10)
|
12838198
|
IBIS
|
153 / 7739
|
|
2
|
(HPO:0003394)
|
Muscle cramps |
Frequent [IBIS]
|
83% (n=6)
|
12838198
|
IBIS
|
106 / 7739
|
|
3
|
(HPO:0001284)
|
Areflexia |
Frequent [IBIS]
|
78% (n=9)
|
12838198
|
IBIS
|
198 / 7739
|
|
4
|
(HPO:0001638)
|
Cardiomyopathy |
Frequent [IBIS]
|
73% (n=21)
|
12838198
|
IBIS
|
192 / 7739
|
|
5
|
(HPO:0001508)
|
Failure to thrive |
Frequent [IBIS]
|
70% (n=10)
|
12838198
|
IBIS
|
454 / 7739
|
|
6
|
(HPO:0009830)
|
Peripheral neuropathy |
Frequent [IBIS]
|
70% (n=10)
|
12838198
|
IBIS
|
206 / 7739
|
|
7
|
(HPO:0001985)
|
Hypoketotic hypoglycemia |
Frequent [IBIS]
|
67% (n=21)
|
12838198
|
IBIS
|
11 / 7739
|
|
8
|
(HPO:0001392)
|
Abnormality of the liver |
Frequent [IBIS]
|
60% (n=10)
|
12838198
|
IBIS
|
28 / 7739
|
|
9
|
(HPO:0001252)
|
Muscular hypotonia |
Frequent [IBIS]
|
57% (n=21)
|
12838198
|
IBIS
|
990 / 7739
|
|
10
|
(HPO:0001254)
|
Lethargy |
Frequent [IBIS]
|
57% (n=7)
|
12838198
|
IBIS
|
104 / 7739
|
|
11
|
(MedDRA:10049438)
|
General physical health deterioration |
Frequent [IBIS]
|
43% (n=21)
|
12838198
|
IBIS
|
1 / 7739
|
|
12
|
(HPO:0001518)
|
Small for gestational age |
Frequent [IBIS]
|
40% (n=20)
|
12838198
|
IBIS
|
107 / 7739
|
|
13
|
(HPO:0001396)
|
Cholestasis |
Occasional [IBIS]
|
13% (n=8)
|
12838198
|
IBIS
|
136 / 7739
|
|
14
|
(HPO:0011675)
|
Arrhythmia |
Occasional [IBIS]
|
10% (n=10)
|
12838198
|
IBIS
|
226 / 7739
|
|
15
|
(HPO:0000580)
|
Pigmentary retinopathy |
Occasional
|
11% (n=9)
|
12838198
|
IBIS
|
49 / 7739
|
|
16
|
(HPO:0001324)
|
Muscle weakness |
|
|
24305961
|
IBIS
|
859 / 7739
|
|
17
|
(HPO:0001560)
|
Abnormality of the amniotic fluid |
|
|
27014569
|
IBIS
|
7 / 7739
|
|
18
|
(HPO:0001635)
|
Congestive heart failure |
|
|
12838198
|
IBIS
|
232 / 7739
|
|
19
|
(HPO:0001644)
|
Dilated cardiomyopathy |
|
|
10400133
|
IBIS
|
141 / 7739
|
|
20
|
(HPO:0001789)
|
Hydrops fetalis |
|
|
12838198
|
IBIS
|
63 / 7739
|
|
21
|
(HPO:0001987)
|
Hyperammonemia |
|
|
8651282
|
IBIS
|
50 / 7739
|
|
22
|
(HPO:0002093)
|
Respiratory insufficiency |
|
|
14694500
|
IBIS
|
410 / 7739
|
|
23
|
(HPO:0002686)
|
Prenatal maternal abnormality |
|
|
12838198
|
IBIS
|
3 / 7739
|
|
24
|
(HPO:0002910)
|
Elevated hepatic transaminases |
|
|
12838198
|
IBIS
|
158 / 7739
|
|
25
|
(HPO:0002913)
|
Myoglobinuria |
|
|
12838198
|
IBIS
|
22 / 7739
|
|
26
|
(HPO:0003128)
|
Lactic acidosis |
|
|
27014569
|
IBIS
|
116 / 7739
|
|
27
|
(HPO:0003201)
|
Rhabdomyolysis |
|
|
23868323
|
IBIS
|
27 / 7739
|
|
28
|
(HPO:0003326)
|
Myalgia |
|
|
12838198
|
IBIS
|
143 / 7739
|
|
29
|
(OMIM)
|
Hepatic dysfunction |
|
|
8651282
|
IBIS
|
1 / 7739
|
|
30
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
12838198
|
IBIS
|
482 / 7739
|
|
31
|
(OMIM)
|
Rhabdomyolysis, episodic |
|
|
23868323
|
IBIS
|
1 / 7739
|
|
32
|
(OMIM)
|
Decreased activity of long-chain 3-hydroxyacyl-CoA dehydrogenase, long-chain 3-oxoacyl-CoA thiolase, and long-chain 2-enoyl-CoA hydratase |
|
|
8651282
|
IBIS
|
1 / 7739
|
|
33
|
(OMIM)
|
Increased serum acylcarnitines |
|
|
10400133
|
IBIS
|
1 / 7739
|
|
34
|
(HPO:0001943)
|
Hypoglycemia |
|
|
27117294
|
IBIS
|
131 / 7739
|
|
35
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
27117294
|
IBIS
|
214 / 7739
|
|
36
|
(HPO:0001270)
|
Motor delay |
|
|
12838198
|
IBIS
|
322 / 7739
|
|
37
|
(HPO:0003652)
|
Recurrent myoglobinuria |
|
|
14694500
|
IBIS
|
2 / 7739
|
|
38
|
(HPO:0002104)
|
Apnea |
|
|
10400133
|
IBIS
|
106 / 7739
|
|
39
|
(HPO:0003546)
|
Exercise intolerance |
|
|
24305961
|
IBIS
|
62 / 7739
|
|
40
|
(MedDRA:10047920)
|
Wheelchair user |
|
|
24305961
|
IBIS
|
3 / 7739
|