|
1
|
(MedDRA:10058799)
|
Mitochondrial encephalomyopathy |
Very frequent [IBIS]
|
|
20362274
|
IBIS
|
5 / 7739
|
|
2
|
(HPO:0001250)
|
Seizures |
|
|
20362274
|
IBIS
|
1245 / 7739
|
|
3
|
(HPO:0001265)
|
Hyporeflexia |
|
|
20362274
|
IBIS
|
208 / 7739
|
|
4
|
(HPO:0002151)
|
Increased serum lactate |
|
|
20362274
|
IBIS
|
92 / 7739
|
|
5
|
(HPO:0002375)
|
Hypokinesia |
|
|
20362274
|
IBIS
|
25 / 7739
|
|
6
|
(HPO:0002376)
|
Developmental regression |
|
|
20362274
|
IBIS
|
74 / 7739
|
|
7
|
(HPO:0002380)
|
Fasciculations |
|
|
20362274
|
IBIS
|
42 / 7739
|
|
8
|
(HPO:0002445)
|
Tetraplegia |
|
|
20362274
|
IBIS
|
26 / 7739
|
|
9
|
(HPO:0002490)
|
Increased CSF lactate |
|
|
20362274
|
IBIS
|
28 / 7739
|
|
10
|
(HPO:0002747)
|
Respiratory insufficiency due to muscle weakness |
|
|
20362274
|
IBIS
|
48 / 7739
|
|
11
|
(HPO:0003200)
|
Ragged-red muscle fibers |
|
|
20362274
|
IBIS
|
37 / 7739
|
|
12
|
(HPO:0003202)
|
Skeletal muscle atrophy |
|
|
20362274
|
IBIS
|
281 / 7739
|
|
13
|
(HPO:0003542)
|
Increased serum pyruvate |
|
|
20362274
|
IBIS
|
18 / 7739
|
|
14
|
(HPO:0009025)
|
Increased connective tissue |
|
|
20362274
|
IBIS
|
11 / 7739
|
|
15
|
(HPO:0001324)
|
Muscle weakness |
|
|
20362274
|
IBIS
|
859 / 7739
|
|
16
|
(OMIM)
|
Mitochondrial DNA depletion (20 to 35% of normal) seen on skeletal muscle biopsy |
|
|
20362274
|
IBIS
|
1 / 7739
|
|
17
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
20362274
|
IBIS
|
990 / 7739
|
|
18
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
20362274
|
IBIS
|
482 / 7739
|
|
19
|
(HPO:0004305)
|
Involuntary movements |
|
|
20362274
|
IBIS
|
50 / 7739
|
|
20
|
(OMIM)
|
Hyporeflexia or areflexia |
|
|
20362274
|
IBIS
|
2 / 7739
|
|
21
|
(OMIM)
|
Sensory and motor axonal polyneuropathy |
|
|
20362274
|
IBIS
|
1 / 7739
|
|
22
|
(OMIM)
|
Increased lactate in serum and CSF |
|
|
20362274
|
IBIS
|
1 / 7739
|
|
23
|
(OMIM)
|
Increased pyruvate in serum and CSF |
|
|
20362274
|
IBIS
|
1 / 7739
|
|
24
|
(HPO:0011924)
|
Decreased activity of mitochondrial complex III |
|
|
20362274
|
IBIS
|
22 / 7739
|
|
25
|
(HPO:0008347)
|
Decreased activity of mitochondrial complex IV |
|
|
20362274
|
IBIS
|
31 / 7739
|
|
26
|
(HPO:0001298)
|
Encephalopathy |
|
|
20362274
|
IBIS
|
72 / 7739
|
|
27
|
(HPO:0003198)
|
Myopathy |
|
|
20362274
|
IBIS
|
151 / 7739
|
|
28
|
(HPO:0009141)
|
Depletion of mitochondrial DNA in muscle tissue |
|
|
20362274
|
IBIS
|
5 / 7739
|
|
29
|
(HPO:0002098)
|
Respiratory distress |
|
|
20362274
|
IBIS
|
75 / 7739
|
|
30
|
(MedDRA:10006469)
|
Bronchopneumonia |
|
|
20362274
|
IBIS
|
2 / 7739
|
|
31
|
(HPO:0002090)
|
Pneumonia |
|
|
20362274
|
IBIS
|
59 / 7739
|
|
32
|
(HPO:0001284)
|
Areflexia |
|
|
20362274
|
IBIS
|
198 / 7739
|
|
33
|
(HPO:0009830)
|
Peripheral neuropathy |
|
|
20362274
|
IBIS
|
206 / 7739
|
|
34
|
(HPO:0003390)
|
Sensory axonal neuropathy |
|
|
20362274
|
IBIS
|
26 / 7739
|
|
35
|
(HPO:0001308)
|
Tongue fasciculations |
|
|
20362274
|
IBIS
|
18 / 7739
|
|
36
|
(HPO:0003324)
|
Generalized muscle weakness |
|
|
20362274
|
IBIS
|
48 / 7739
|
|
37
|
(HPO:0002197)
|
Generalized seizures |
|
|
20362274
|
IBIS
|
30 / 7739
|