|
1
|
(HPO:0009830)
|
Peripheral neuropathy |
|
|
25586537
|
IBIS
|
206 / 7739
|
|
2
|
(HPO:0001250)
|
Seizures |
|
|
25586537
|
IBIS
|
1245 / 7739
|
|
3
|
(HPO:0002315)
|
Headache |
|
|
25586537
|
IBIS
|
175 / 7739
|
|
4
|
(HPO:0100543)
|
Cognitive impairment |
|
|
25586537
|
IBIS
|
230 / 7739
|
|
5
|
(HPO:0000708)
|
Behavioral abnormality |
|
|
25586537
|
IBIS
|
212 / 7739
|
|
6
|
(HPO:0000602)
|
Ophthalmoplegia |
|
|
25586537
|
IBIS
|
56 / 7739
|
|
7
|
(HPO:0001298)
|
Encephalopathy |
|
|
20695297
|
IBIS
|
72 / 7739
|
|
8
|
(MedDRA:10062938)
|
Mitochondrial hepatopathy |
|
|
20695297
|
IBIS
|
2 / 7739
|
|
9
|
(OMIM)
|
Epilepsy, refractory (onset in adolescence or young adulthood) |
|
|
20695297
|
IBIS
|
3 / 7739
|
|
10
|
(HPO:0001251)
|
Ataxia |
|
|
20695297
|
IBIS
|
413 / 7739
|
|
11
|
(HPO:0001288)
|
Gait disturbance |
|
|
22166854
|
IBIS
|
318 / 7739
|
|
12
|
(HPO:0002312)
|
Clumsiness |
|
|
22166854
|
IBIS
|
28 / 7739
|
|
13
|
(HPO:0001260)
|
Dysarthria |
|
|
22166854
|
IBIS
|
329 / 7739
|
|
14
|
(HPO:0000651)
|
Diplopia |
|
|
22166854
|
IBIS
|
37 / 7739
|
|
15
|
(HPO:0010534)
|
Transient global amnesia |
|
|
22166854
|
IBIS
|
1 / 7739
|
|
16
|
(HPO:0001271)
|
Polyneuropathy |
|
|
22166854
|
IBIS
|
56 / 7739
|
|
17
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
22166854
|
IBIS
|
214 / 7739
|
|
18
|
(HPO:0000739)
|
Anxiety |
|
|
22166854
|
IBIS
|
67 / 7739
|
|
19
|
(HPO:0000716)
|
Depression |
|
|
22166854
|
IBIS
|
99 / 7739
|
|
20
|
(HPO:0002090)
|
Pneumonia |
|
|
22166854
|
IBIS
|
59 / 7739
|
|
21
|
(HPO:0002204)
|
Pulmonary embolism |
|
|
22166854
|
IBIS
|
26 / 7739
|
|
22
|
(HPO:0000613)
|
Photophobia |
|
|
22166854
|
IBIS
|
158 / 7739
|
|
23
|
(HPO:0010532)
|
Paroxysmal vertigo |
|
|
22166854
|
IBIS
|
1 / 7739
|
|
24
|
(OMIM)
|
Subsarcolemmal mitochondrial accumulation |
|
|
22166854
|
IBIS
|
4 / 7739
|
|
25
|
(HPO:0012102)
|
Abnormal mitochondrial number |
|
|
22166854
|
IBIS
|
4 / 7739
|
|
26
|
(HPO:0011096)
|
Peripheral demyelination |
|
|
22166854
|
IBIS
|
28 / 7739
|
|
27
|
(HPO:0006827)
|
Atrophy of the spinal cord |
|
|
22166854
|
IBIS
|
5 / 7739
|
|
28
|
(HPO:0007047)
|
Atrophy of the dentate nucleus |
|
|
22166854
|
IBIS
|
3 / 7739
|
|
29
|
(HPO:0002529)
|
Neuronal loss in central nervous system |
|
|
22166854
|
IBIS
|
37 / 7739
|
|
30
|
(HPO:0001317)
|
Abnormality of the cerebellum |
|
|
22166854
|
IBIS
|
36 / 7739
|
|
31
|
(HPO:0002500)
|
Abnormality of the cerebral white matter |
|
|
22166854
|
IBIS
|
73 / 7739
|
|
32
|
(HPO:0003689)
|
Multiple mitochondrial DNA deletions |
|
|
18775955
|
IBIS
|
12 / 7739
|