1
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [IBIS]
|
|
17033963
|
IBIS
|
990 / 7739
|
2
|
(HPO:0003128)
|
Lactic acidosis |
Very frequent [IBIS]
|
|
17033963
|
IBIS
|
116 / 7739
|
3
|
(HPO:0005157)
|
Concentric hypertrophic cardiomyopathy |
Very frequent [IBIS]
|
|
17033963
|
IBIS
|
5 / 7739
|
4
|
(HPO:0008947)
|
Infantile muscular hypotonia |
Very frequent [IBIS]
|
|
17033963
|
IBIS
|
482 / 7739
|
5
|
(MedDRA:10058799)
|
Mitochondrial encephalomyopathy |
Very frequent [IBIS]
|
|
17033963
|
IBIS
|
5 / 7739
|
6
|
(HPO:0002878)
|
Respiratory failure |
Very frequent [IBIS]
|
|
17033963
|
IBIS
|
57 / 7739
|
7
|
(HPO:0001250)
|
Seizures |
|
|
17033963
|
IBIS
|
1245 / 7739
|
8
|
(HPO:0001298)
|
Encephalopathy |
|
|
17033963
|
IBIS
|
72 / 7739
|
9
|
(HPO:0001319)
|
Neonatal hypotonia |
|
|
17033963
|
IBIS
|
101 / 7739
|
10
|
(HPO:0001324)
|
Muscle weakness |
|
|
25037205
|
IBIS
|
859 / 7739
|
11
|
(HPO:0001511)
|
Intrauterine growth retardation |
|
|
25037205
|
IBIS
|
358 / 7739
|
12
|
(HPO:0001558)
|
Decreased fetal movement |
|
|
17033963
|
IBIS
|
74 / 7739
|
13
|
(HPO:0001643)
|
Patent ductus arteriosus |
|
|
17033963
|
IBIS
|
228 / 7739
|
14
|
(HPO:0011648)
|
Patent ductus arteriosus after birth at term |
|
|
17033963
|
IBIS
|
18 / 7739
|
15
|
(HPO:0001655)
|
Patent foramen ovale |
|
|
17033963
|
IBIS
|
31 / 7739
|
16
|
(HPO:0002093)
|
Respiratory insufficiency |
|
|
17033963
|
IBIS
|
410 / 7739
|
17
|
(HPO:0002119)
|
Ventriculomegaly |
|
|
17033963
|
IBIS
|
253 / 7739
|
18
|
(HPO:0002151)
|
Increased serum lactate |
|
|
17033963
|
IBIS
|
92 / 7739
|
19
|
(HPO:0003201)
|
Rhabdomyolysis |
|
|
17033963
|
IBIS
|
27 / 7739
|
20
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
17033963
|
IBIS
|
214 / 7739
|
21
|
(HPO:0008347)
|
Decreased activity of mitochondrial complex IV |
|
|
17033963
|
IBIS
|
31 / 7739
|
22
|
(HPO:0008872)
|
Feeding difficulties in infancy |
|
|
17033963
|
IBIS
|
153 / 7739
|
23
|
(HPO:0011923)
|
Decreased activity of mitochondrial complex I |
|
|
17033963
|
IBIS
|
35 / 7739
|
24
|
(HPO:0011924)
|
Decreased activity of mitochondrial complex III |
|
|
17033963
|
IBIS
|
22 / 7739
|
25
|
(HPO:0011968)
|
Feeding difficulties |
|
|
17033963
|
IBIS
|
240 / 7739
|
26
|
(OMIM)
|
COX-deficient fibers |
|
|
25037205
|
IBIS
|
3 / 7739
|
27
|
(OMIM)
|
Reduced brain gyri |
|
|
17033963
|
IBIS
|
1 / 7739
|
28
|
(OMIM)
|
Abnormal signals in the thalami seen on MRI |
|
|
17033963
|
IBIS
|
1 / 7739
|
29
|
(OMIM)
|
Increased serum ketones |
|
|
17033963
|
IBIS
|
1 / 7739
|
30
|
(OMIM)
|
Increased serum ammonia |
|
|
17033963
|
IBIS
|
5 / 7739
|
31
|
(OMIM)
|
Decreased activity of mitochondrial respiratory complexes I, III, and IV |
|
|
17033963
|
IBIS
|
1 / 7739
|
32
|
(OMIM)
|
Early death |
|
|
17033963
|
IBIS
|
13 / 7739
|
33
|
(HPO:0003198)
|
Myopathy |
|
|
17033963
|
IBIS
|
151 / 7739
|
34
|
(HPO:0006789)
|
Mitochondrial encephalopathy |
|
|
17033963
|
IBIS
|
5 / 7739
|
35
|
(HPO:0003737)
|
Mitochondrial myopathy |
|
|
17033963
|
IBIS
|
18 / 7739
|
36
|
(HPO:0001639)
|
Hypertrophic cardiomyopathy |
|
|
17033963
|
IBIS
|
137 / 7739
|
37
|
(HPO:0002033)
|
Poor suck |
|
|
17033963
|
IBIS
|
37 / 7739
|
38
|
(MedDRA:10057977)
|
Lactate pyruvate ratio increased |
|
|
17033963
|
IBIS
|
3 / 7739
|
39
|
(MedDRA:10067221)
|
Mechanical ventilation |
|
|
17033963
|
IBIS
|
1 / 7739
|
40
|
(HPO:0002094)
|
Dyspnea |
|
|
17033963
|
IBIS
|
132 / 7739
|
41
|
(HPO:0001522)
|
Death in infancy |
|
|
17033963
|
IBIS
|
275 / 7739
|
42
|
(HPO:0000741)
|
Apathy |
|
|
17033963
|
IBIS
|
42 / 7739
|
43
|
(OMIM)
|
Irregular breathing |
|
|
17033963
|
IBIS
|
2 / 7739
|
44
|
(HPO:0005957)
|
Breathing dysregulation |
|
|
17033963
|
IBIS
|
6 / 7739
|
45
|
(HPO:0001942)
|
Metabolic acidosis |
|
|
17033963
|
IBIS
|
81 / 7739
|
46
|
(HPO:0001946)
|
Ketosis |
|
|
17033963
|
IBIS
|
17 / 7739
|
47
|
(HPO:0001987)
|
Hyperammonemia |
|
|
17033963
|
IBIS
|
50 / 7739
|
48
|
(HPO:0001399)
|
Hepatic failure |
|
|
21741925
|
IBIS
|
80 / 7739
|
49
|
(HPO:0001268)
|
Mental deterioration |
|
|
25037205
|
IBIS
|
88 / 7739
|
50
|
(HPO:0007141)
|
Sensorimotor neuropathy |
|
|
25037205
|
IBIS
|
27 / 7739
|
51
|
(HPO:0011804)
|
Abnormality of muscle physiology |
|
|
25037205
|
IBIS
|
1 / 7739
|
52
|
(HPO:0003554)
|
Type 2 muscle fiber atrophy |
|
|
25037205
|
IBIS
|
14 / 7739
|
53
|
(HPO:0002353)
|
EEG abnormality |
|
|
17033963
|
IBIS
|
188 / 7739
|
54
|
(HPO:0003688)
|
Decreased activity of cytochrome C oxidase in muscle tissue |
|
|
17033963
|
IBIS
|
20 / 7739
|
55
|
(HPO:0002902)
|
Hyponatremia |
|
|
17033963
|
IBIS
|
37 / 7739
|
56
|
(HPO:0012378)
|
Fatigue |
|
|
25037205
|
IBIS
|
50 / 7739
|
57
|
(HPO:0003458)
|
EMG: myopathic abnormalities |
|
|
25037205
|
IBIS
|
38 / 7739
|
58
|
(HPO:0003447)
|
Axonal loss |
|
|
25037205
|
IBIS
|
11 / 7739
|
59
|
(OMIM)
|
Nerve hypertrophy |
|
|
25037205
|
IBIS
|
2 / 7739
|
60
|
(HPO:0100660)
|
Dyskinesia |
|
|
25037205
|
IBIS
|
19 / 7739
|