|
1
|
(HPO:0000543)
|
Optic disc pallor |
Very frequent [IBIS]
|
100% (n=10)
|
20454697
|
IBIS
|
67 / 7739
|
|
2
|
(HPO:0000572)
|
Visual loss |
Very frequent [IBIS]
|
|
11523562
|
IBIS
|
272 / 7739
|
|
3
|
(HPO:0001138)
|
Optic neuropathy |
Very frequent [IBIS]
|
|
24568867
|
IBIS
|
12 / 7739
|
|
4
|
(HPO:0001112)
|
Leber optic atrophy |
Very frequent [IBIS]
|
|
3201231
|
IBIS
|
9 / 7739
|
|
5
|
(HPO:0003287)
|
Abnormality of mitochondrial metabolism |
Very frequent [IBIS]
|
|
26170609
|
IBIS
|
12 / 7739
|
|
6
|
(HPO:0000603)
|
Central scotoma |
Frequent [IBIS]
|
80% (n=10)
|
20454697
|
IBIS
|
18 / 7739
|
|
7
|
(HPO:0000505)
|
Visual impairment |
Frequent [IBIS]
|
|
26170609
|
IBIS
|
297 / 7739
|
|
8
|
(HPO:0007641)
|
Dyschromatopsia |
Frequent [IBIS]
|
|
26170609
|
IBIS
|
19 / 7739
|
|
9
|
(HPO:0000576)
|
Centrocecal scotoma |
Occasional [IBIS]
|
10% (n=10)
|
20454697
|
IBIS
|
6 / 7739
|
|
10
|
(HPO:0001716)
|
Wolff-Parkinson-White syndrome |
|
|
23549648
|
IBIS
|
21 / 7739
|
|
11
|
(HPO:0000648)
|
Optic atrophy |
|
|
3201231
|
IBIS
|
238 / 7739
|
|
12
|
(HPO:0000622)
|
Blurred vision |
|
|
14620678
|
IBIS
|
14 / 7739
|
|
13
|
(HPO:0000618)
|
Blindness |
|
|
11897814
|
IBIS
|
124 / 7739
|
|
14
|
(HPO:0002066)
|
Gait ataxia |
|
|
19301602
|
IBIS
|
327 / 7739
|
|
15
|
(HPO:0009830)
|
Peripheral neuropathy |
|
|
20454697
|
IBIS
|
206 / 7739
|
|
16
|
(HPO:0002174)
|
Postural tremor |
|
|
20454697
|
IBIS
|
22 / 7739
|
|
17
|
(HPO:0100022)
|
Abnormality of movement |
|
|
20454697
|
IBIS
|
129 / 7739
|
|
18
|
(HPO:0001332)
|
Dystonia |
|
|
26170609
|
IBIS
|
197 / 7739
|
|
19
|
(HPO:0002311)
|
Incoordination |
|
|
15657614
|
IBIS
|
84 / 7739
|
|
20
|
(HPO:0001251)
|
Ataxia |
|
|
26170609
|
IBIS
|
413 / 7739
|
|
21
|
(HPO:0001678)
|
Atrioventricular block |
|
|
12807863
|
IBIS
|
59 / 7739
|
|
22
|
(HPO:0011675)
|
Arrhythmia |
|
|
20454697
|
IBIS
|
226 / 7739
|
|
23
|
(HPO:0004948)
|
Vascular tortuosity |
|
|
26170609
|
IBIS
|
5 / 7739
|
|
24
|
(HPO:0003198)
|
Myopathy |
|
|
20454697
|
IBIS
|
151 / 7739
|
|
25
|
(OMIM)
|
Spastic dystonia |
|
|
8644732
|
IBIS
|
3 / 7739
|
|
26
|
(MedDRA:10062198)
|
Microangiopathy |
|
|
3201231
|
IBIS
|
4 / 7739
|
|
27
|
(OMIM)
|
Multiple sclerosis-like illness (516003.0001) |
|
|
1393514
|
IBIS
|
3 / 7739
|
|
28
|
(OMIM)
|
Nonspecific myopathy |
|
|
20454697
|
IBIS
|
2 / 7739
|
|
29
|
(OMIM)
|
Histology shows degeneration of retinal ganglion cells |
|
|
26170609
|
IBIS
|
2 / 7739
|
|
30
|
(HPO:0200057)
|
Marcus Gunn pupil |
|
|
26170609
|
IBIS
|
3 / 7739
|
|
31
|
(HPO:0012795)
|
Abnormality of the optic disc |
|
|
26170609
|
IBIS
|
187 / 7739
|
|
32
|
(HPO:3000036)
|
Abnormality of head blood vessel |
|
|
26170609
|
IBIS
|
1 / 7739
|
|
33
|
(HPO:0001085)
|
Papilledema |
|
|
26170609
|
IBIS
|
31 / 7739
|
|
34
|
(HPO:0000538)
|
Pseudopapilledema |
|
|
26170609
|
IBIS
|
4 / 7739
|
|
35
|
(MedDRA:10071196)
|
Optic disc hyperaemia |
|
|
26170609
|
IBIS
|
1 / 7739
|
|
36
|
(HPO:0001009)
|
Telangiectasia |
|
|
26170609
|
IBIS
|
46 / 7739
|
|
37
|
(OMIM)
|
Swelling of retinal nerve fiber layer (acute phase) |
|
|
26170609
|
IBIS
|
2 / 7739
|
|
38
|
(HPO:0030607)
|
Reduced OCT-measured macular thickness |
|
|
26170609
|
IBIS
|
1 / 7739
|
|
39
|
(HPO:0000649)
|
Abnormality of visual evoked potentials |
|
|
26170609
|
IBIS
|
34 / 7739
|
|
40
|
(HPO:0000512)
|
Abnormal electroretinogram |
|
|
26170609
|
IBIS
|
61 / 7739
|
|
41
|
(MedDRA:10057361)
|
Blood brain barrier defect |
|
|
26170609
|
IBIS
|
1 / 7739
|