|
1
|
(OMIM)
|
Encephalomyelopathy |
Very frequent [IBIS]
|
|
230781
|
IBIS
|
2 / 7739
|
|
2
|
(HPO:0000648)
|
Optic atrophy |
Frequent [IBIS]
|
|
230781
|
IBIS
|
238 / 7739
|
|
3
|
(HPO:0000603)
|
Central scotoma |
Frequent [IBIS]
|
|
230781
|
IBIS
|
18 / 7739
|
|
4
|
(HPO:0007641)
|
Dyschromatopsia |
Frequent [IBIS]
|
|
230781
|
IBIS
|
19 / 7739
|
|
5
|
(HPO:0001251)
|
Ataxia |
Frequent [IBIS]
|
|
230781
|
IBIS
|
413 / 7739
|
|
6
|
(HPO:0000572)
|
Visual loss |
Frequent [IBIS]
|
|
3419377
|
IBIS
|
272 / 7739
|
|
7
|
(HPO:0002069)
|
Generalized tonic-clonic seizures |
Occasional [IBIS]
|
|
230781
|
IBIS
|
96 / 7739
|
|
8
|
(HPO:0000726)
|
Dementia |
Occasional [IBIS]
|
|
230781
|
IBIS
|
131 / 7739
|
|
9
|
(HPO:0000508)
|
Ptosis |
|
|
21819970
|
IBIS
|
459 / 7739
|
|
10
|
(HPO:0001488)
|
Bilateral ptosis |
|
|
21819970
|
IBIS
|
42 / 7739
|
|
11
|
(HPO:0000975)
|
Hyperhidrosis |
|
|
3419377
|
IBIS
|
64 / 7739
|
|
12
|
(OMIM)
|
Mild dementia |
|
|
230781
|
IBIS
|
2 / 7739
|
|
13
|
(HPO:0001268)
|
Mental deterioration |
|
|
22273117
|
IBIS
|
88 / 7739
|
|
14
|
(OMIM)
|
MRI shows T2-weighted signals in the basal ganglia |
|
|
22273117
|
IBIS
|
4 / 7739
|
|
15
|
(HPO:0012657)
|
Abnormal brain positron emission tomography |
|
|
22273117
|
IBIS
|
1 / 7739
|
|
16
|
(HPO:0100502)
|
Vitamin B12 deficiency |
|
|
22273117
|
IBIS
|
4 / 7739
|
|
17
|
(HPO:0001658)
|
Myocardial infarction |
|
|
22273117
|
IBIS
|
30 / 7739
|
|
18
|
(HPO:0003688)
|
Decreased activity of cytochrome C oxidase in muscle tissue |
|
|
22273117
|
IBIS
|
20 / 7739
|
|
19
|
(HPO:0006976)
|
Necrotizing encephalopathy |
|
|
22273117
|
IBIS
|
2 / 7739
|
|
20
|
(HPO:0008347)
|
Decreased activity of mitochondrial complex IV |
|
|
22273117
|
IBIS
|
31 / 7739
|
|
21
|
(HPO:0000602)
|
Ophthalmoplegia |
|
|
7715756
|
IBIS
|
56 / 7739
|
|
22
|
(OMIM)
|
Cranial nerve dysfunction |
|
|
7715756
|
IBIS
|
2 / 7739
|
|
23
|
(HPO:0006824)
|
Cranial nerve paralysis |
|
|
7715756
|
IBIS
|
81 / 7739
|
|
24
|
(HPO:0001336)
|
Myoclonus |
|
|
7715756
|
IBIS
|
115 / 7739
|
|
25
|
(HPO:0000639)
|
Nystagmus |
|
|
7715756
|
IBIS
|
555 / 7739
|
|
26
|
(HPO:0002197)
|
Generalized seizures |
|
|
7715756
|
IBIS
|
30 / 7739
|
|
27
|
(HPO:0007108)
|
Demyelinating peripheral neuropathy |
|
|
7715756
|
IBIS
|
8 / 7739
|
|
28
|
(MedDRA:10021079)
|
Hypopnoea |
|
|
7715756
|
IBIS
|
1 / 7739
|
|
29
|
(HPO:0005957)
|
Breathing dysregulation |
|
|
7715756
|
IBIS
|
6 / 7739
|
|
30
|
(HPO:0001324)
|
Muscle weakness |
|
|
10208283
|
IBIS
|
859 / 7739
|
|
31
|
(HPO:0002017)
|
Nausea and vomiting |
|
|
10208283
|
IBIS
|
134 / 7739
|
|
32
|
(HPO:0001903)
|
Anemia |
|
|
10208283
|
IBIS
|
289 / 7739
|
|
33
|
(HPO:0002321)
|
Vertigo |
|
|
10208283
|
IBIS
|
58 / 7739
|
|
34
|
(HPO:0000618)
|
Blindness |
|
|
10208283
|
IBIS
|
124 / 7739
|
|
35
|
(HPO:0000365)
|
Hearing impairment |
|
|
10208283
|
IBIS
|
539 / 7739
|
|
36
|
(HPO:0001298)
|
Encephalopathy |
|
|
10208283
|
IBIS
|
72 / 7739
|
|
37
|
(MedDRA:10028836)
|
Neck pain |
|
|
3419377
|
IBIS
|
3 / 7739
|
|
38
|
(HPO:0002315)
|
Headache |
|
|
3419377
|
IBIS
|
175 / 7739
|
|
39
|
(HPO:0003474)
|
Sensory impairment |
|
|
3419377
|
IBIS
|
54 / 7739
|
|
40
|
(HPO:0012671)
|
Abulia |
|
|
3419377
|
IBIS
|
1 / 7739
|
|
41
|
(HPO:0002273)
|
Tetraparesis |
|
|
3419377
|
IBIS
|
15 / 7739
|
|
42
|
(HPO:0001259)
|
Coma |
|
|
3419377
|
IBIS
|
65 / 7739
|
|
43
|
(MedDRA:10049095)
|
Decerebration |
|
|
3419377
|
IBIS
|
1 / 7739
|
|
44
|
(HPO:0002123)
|
Generalized myoclonic seizures |
|
|
20019223
|
IBIS
|
62 / 7739
|
|
45
|
(HPO:0008972)
|
Decreased activity of mitochondrial respiratory chain |
|
|
22273117
|
IBIS
|
34 / 7739
|