1
|
(HPO:0001336)
|
Myoclonus |
Very frequent [IBIS]
|
100% (n=6)
|
18216301
|
IBIS
|
115 / 7739
|
2
|
(OMIM)
|
Mitochondrial proliferation |
Frequent [IBIS]
|
66.7% (n=6)
|
18216301
|
IBIS
|
4 / 7739
|
3
|
(HPO:0003200)
|
Ragged-red muscle fibers |
Frequent [IBIS]
|
66.7% (n=6)
|
18216301
|
IBIS
|
37 / 7739
|
4
|
(HPO:0003128)
|
Lactic acidosis |
Frequent [IBIS]
|
66.7% (n=6)
|
18216301
|
IBIS
|
116 / 7739
|
5
|
(HPO:0012707)
|
Elevated brain lactate level by MRS |
Frequent [IBIS]
|
50% (n=6)
|
18216301
|
IBIS
|
2 / 7739
|
6
|
(HPO:0001337)
|
Tremor |
Occasional [IBIS]
|
25% (n=36)
|
7629530
|
IBIS
|
200 / 7739
|
7
|
(HPO:0002174)
|
Postural tremor |
Occasional [IBIS]
|
25% (n=36)
|
7629530
|
IBIS
|
22 / 7739
|
8
|
(HPO:0001271)
|
Polyneuropathy |
Occasional [IBIS]
|
22.2% (n=36)
|
7629530
|
IBIS
|
56 / 7739
|
9
|
(HPO:0002942)
|
Thoracic kyphosis |
Occasional [IBIS]
|
19.4% (n=36)
|
7629530
|
IBIS
|
14 / 7739
|
10
|
(HPO:0002076)
|
Migraine |
Occasional [IBIS]
|
8.7% (n=6)
|
7629530
|
IBIS
|
41 / 7739
|
11
|
(HPO:0001250)
|
Seizures |
Rare [IBIS]
|
5.6% (n=36)
|
7629530
|
IBIS
|
1245 / 7739
|
12
|
(HPO:0001332)
|
Dystonia |
Rare [IBIS]
|
2.8% (n=36)
|
7629530
|
IBIS
|
197 / 7739
|
13
|
(HPO:0001300)
|
Parkinsonism |
Rare [IBIS]
|
2.8% (n=36)
|
7629530
|
IBIS
|
75 / 7739
|
14
|
(HPO:0001761)
|
Pes cavus |
Rare [IBIS]
|
2.8% (n=36)
|
7629530
|
IBIS
|
225 / 7739
|
15
|
(HPO:0002363)
|
Abnormality of brainstem morphology |
Rare [IBIS]
|
2.8% (n=36)
|
7629530
|
IBIS
|
14 / 7739
|
16
|
(OMIM)
|
Multiple sclerosis-like illness (516003.0001) |
Rare [IBIS]
|
2.8% (n=36)
|
7629530
|
IBIS
|
3 / 7739
|
17
|
(HPO:0000726)
|
Dementia |
Rare [IBIS]
|
2.8% (n=36)
|
7629530
|
IBIS
|
131 / 7739
|
18
|
(HPO:0100034)
|
Motor tics |
Rare [IBIS]
|
2.8 (n=36)
|
7629530
|
IBIS
|
5 / 7739
|
19
|
(HPO:0000648)
|
Optic atrophy |
|
|
7629530
|
IBIS
|
238 / 7739
|
20
|
(HPO:0001251)
|
Ataxia |
|
|
23864591
|
IBIS
|
413 / 7739
|
21
|
(HPO:0001260)
|
Dysarthria |
|
|
23864591
|
IBIS
|
329 / 7739
|
22
|
(HPO:0001269)
|
Hemiparesis |
|
|
16170145
|
IBIS
|
51 / 7739
|
23
|
(HPO:0001298)
|
Encephalopathy |
|
|
26170609
|
IBIS
|
72 / 7739
|
24
|
(OMIM)
|
Spastic dystonia |
|
|
26170609
|
IBIS
|
3 / 7739
|
25
|
(HPO:0000708)
|
Behavioral abnormality |
|
|
26170609
|
IBIS
|
212 / 7739
|
26
|
(HPO:0011675)
|
Arrhythmia |
|
|
26170609
|
IBIS
|
226 / 7739
|
27
|
(HPO:0009830)
|
Peripheral neuropathy |
|
|
26170609
|
IBIS
|
206 / 7739
|
28
|
(HPO:0000505)
|
Visual impairment |
|
|
23864591
|
IBIS
|
297 / 7739
|
29
|
(HPO:0001263)
|
Global developmental delay |
|
|
23864591
|
IBIS
|
853 / 7739
|
30
|
(HPO:0007307)
|
Rapid neurologic deterioration |
|
|
23864591
|
IBIS
|
3 / 7739
|
31
|
(HPO:0001138)
|
Optic neuropathy |
|
|
9684025
|
IBIS
|
12 / 7739
|
32
|
(HPO:0000602)
|
Ophthalmoplegia |
|
|
9684025
|
IBIS
|
56 / 7739
|
33
|
(HPO:0003394)
|
Muscle cramps |
|
|
18216301
|
IBIS
|
106 / 7739
|
34
|
(MedDRA:10012303)
|
Demyelinating disorders |
|
|
21685233
|
IBIS
|
1 / 7739
|
35
|
(HPO:0002143)
|
Abnormality of the spinal cord |
|
|
7629530
|
IBIS
|
4 / 7739
|
36
|
(HPO:0001288)
|
Gait disturbance |
|
|
23091534
|
IBIS
|
318 / 7739
|
37
|
(HPO:0007817)
|
Horizontal supranuclear gaze palsy |
|
|
23091534
|
IBIS
|
3 / 7739
|
38
|
(HPO:0000640)
|
Gaze-evoked nystagmus |
|
|
23091534
|
IBIS
|
27 / 7739
|
39
|
(HPO:0012444)
|
Brain atrophy |
|
|
23091534
|
IBIS
|
24 / 7739
|
40
|
(HPO:0002321)
|
Vertigo |
|
|
23091534
|
IBIS
|
58 / 7739
|
41
|
(HPO:0000651)
|
Diplopia |
|
|
23091534
|
IBIS
|
37 / 7739
|
42
|
(HPO:0000577)
|
Exotropia |
|
|
23091534
|
IBIS
|
43 / 7739
|
43
|
(HPO:0007979)
|
Gaze-evoked horizontal nystagmus |
|
|
23091534
|
IBIS
|
5 / 7739
|
44
|
(HPO:0010544)
|
Vertical nystagmus |
|
|
23091534
|
IBIS
|
5 / 7739
|
45
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
23091534
|
IBIS
|
990 / 7739
|
46
|
(HPO:0000543)
|
Optic disc pallor |
|
|
7629530
|
IBIS
|
67 / 7739
|
47
|
(HPO:0000529)
|
Progressive visual loss |
|
|
7629530
|
IBIS
|
54 / 7739
|
48
|
(MedDRA:10020565)
|
Hyperaemia |
|
|
7629530
|
IBIS
|
1 / 7739
|
49
|
(HPO:0001085)
|
Papilledema |
|
|
7629530
|
IBIS
|
31 / 7739
|
50
|
(MedDRA:10062198)
|
Microangiopathy |
|
|
7629530
|
IBIS
|
4 / 7739
|
51
|
(HPO:0008969)
|
Leg muscle stiffness |
|
|
7629530
|
IBIS
|
5 / 7739
|
52
|
(HPO:0002313)
|
Spastic paraparesis |
|
|
7629530
|
IBIS
|
33 / 7739
|
53
|
(HPO:0000576)
|
Centrocecal scotoma |
|
|
7629530
|
IBIS
|
6 / 7739
|
54
|
(HPO:0000479)
|
Abnormality of the retina |
|
|
7629530
|
IBIS
|
74 / 7739
|
55
|
(HPO:0002495)
|
Impaired vibratory sensation |
|
|
7629530
|
IBIS
|
26 / 7739
|
56
|
(HPO:0000020)
|
Urinary incontinence |
|
|
7629530
|
IBIS
|
75 / 7739
|
57
|
(OMIM)
|
MRI shows white matter lesions |
|
|
7629530
|
IBIS
|
2 / 7739
|
58
|
(HPO:0002500)
|
Abnormality of the cerebral white matter |
|
|
7629530
|
IBIS
|
73 / 7739
|
59
|
(HPO:0001098)
|
Abnormality of the fundus |
|
|
7629530
|
IBIS
|
2 / 7739
|
60
|
(HPO:0001324)
|
Muscle weakness |
|
|
7629530
|
IBIS
|
859 / 7739
|
61
|
(HPO:0001347)
|
Hyperreflexia |
|
|
7629530
|
IBIS
|
363 / 7739
|
62
|
(HPO:0011448)
|
Ankle clonus |
|
|
7629530
|
IBIS
|
31 / 7739
|
63
|
(HPO:0003474)
|
Sensory impairment |
|
|
7629530
|
IBIS
|
54 / 7739
|
64
|
(HPO:0000802)
|
Impotence |
|
|
7629530
|
IBIS
|
20 / 7739
|
65
|
(HPO:0008445)
|
Cervical spinal canal stenosis |
|
|
7629530
|
IBIS
|
3 / 7739
|
66
|
(HPO:0010550)
|
Paraplegia |
|
|
7629530
|
IBIS
|
10 / 7739
|
67
|
(HPO:0000618)
|
Blindness |
|
|
7629530
|
IBIS
|
124 / 7739
|
68
|
(HPO:0000473)
|
Torticollis |
|
|
7629530
|
IBIS
|
42 / 7739
|
69
|
(HPO:0002542)
|
Olivopontocerebellar atrophy |
|
|
23091534
|
IBIS
|
11 / 7739
|
70
|
(HPO:0001009)
|
Telangiectasia |
|
|
16170145
|
IBIS
|
46 / 7739
|
71
|
(HPO:0003487)
|
Babinski sign |
|
|
16170145
|
IBIS
|
179 / 7739
|
72
|
(HPO:0000551)
|
Abnormality of color vision |
|
|
16170145
|
IBIS
|
20 / 7739
|
73
|
(HPO:0200057)
|
Marcus Gunn pupil |
|
|
16170145
|
IBIS
|
3 / 7739
|
74
|
(HPO:0002134)
|
Abnormality of the basal ganglia |
|
|
16170145
|
IBIS
|
13 / 7739
|
75
|
(HPO:0001257)
|
Spasticity |
|
|
16170145
|
IBIS
|
251 / 7739
|
76
|
(HPO:0011923)
|
Decreased activity of mitochondrial complex I |
|
|
16170145
|
IBIS
|
35 / 7739
|
77
|
(HPO:0000365)
|
Hearing impairment |
|
|
15026512
|
IBIS
|
539 / 7739
|
78
|
(MedDRA:10072198)
|
Auditory neuropathy spectrum disorder |
|
|
15026512
|
IBIS
|
1 / 7739
|
79
|
(HPO:0008972)
|
Decreased activity of mitochondrial respiratory chain |
|
|
16170145
|
IBIS
|
34 / 7739
|