|
1
|
(HPO:0000648)
|
Optic atrophy |
Very frequent [IBIS]
|
|
23188110
|
IBIS
|
238 / 7739
|
|
2
|
(HPO:0001258)
|
Spastic paraplegia |
Very frequent [IBIS]
|
|
23188110
|
IBIS
|
97 / 7739
|
|
3
|
(HPO:0009830)
|
Peripheral neuropathy |
Very frequent [IBIS]
|
|
23188110
|
IBIS
|
206 / 7739
|
|
4
|
(HPO:0000505)
|
Visual impairment |
|
|
23188110
|
IBIS
|
297 / 7739
|
|
5
|
(HPO:0000603)
|
Central scotoma |
|
|
23188110
|
IBIS
|
18 / 7739
|
|
6
|
(HPO:0001347)
|
Hyperreflexia |
|
|
23188110
|
IBIS
|
363 / 7739
|
|
7
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
23188110
|
IBIS
|
309 / 7739
|
|
8
|
(HPO:0002169)
|
Clonus |
|
|
23188110
|
IBIS
|
37 / 7739
|
|
9
|
(HPO:0002355)
|
Difficulty walking |
|
|
23188110
|
IBIS
|
61 / 7739
|
|
10
|
(HPO:0002936)
|
Distal sensory impairment |
|
|
23188110
|
IBIS
|
96 / 7739
|
|
11
|
(HPO:0003376)
|
Steppage gait |
|
|
23188110
|
IBIS
|
41 / 7739
|
|
12
|
(HPO:0003383)
|
Onion bulb formation |
|
|
23188110
|
IBIS
|
30 / 7739
|
|
13
|
(HPO:0003477)
|
Peripheral axonal neuropathy |
|
|
23188110
|
IBIS
|
62 / 7739
|
|
14
|
(HPO:0000575)
|
Scotoma |
|
|
23188110
|
IBIS
|
11 / 7739
|
|
15
|
(HPO:0100543)
|
Cognitive impairment |
|
|
23188110
|
IBIS
|
230 / 7739
|
|
16
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
rare [HPO:skoehler]
|
|
23188110
|
IBIS
|
161 / 7739
|
|
17
|
(HPO:0007663)
|
Reduced visual acuity |
rare [HPO:skoehler]
|
|
23188110
|
IBIS
|
100 / 7739
|
|
18
|
(HPO:0000602)
|
Ophthalmoplegia |
|
|
20598281
|
IBIS
|
56 / 7739
|
|
19
|
(HPO:0011923)
|
Decreased activity of mitochondrial complex I |
|
|
23188110
|
IBIS
|
35 / 7739
|
|
20
|
(HPO:0008347)
|
Decreased activity of mitochondrial complex IV |
|
|
23188110
|
IBIS
|
31 / 7739
|
|
21
|
(HPO:0011925)
|
Decreased activity of mitochondrial ATP synthase complex |
|
|
23188110
|
IBIS
|
10 / 7739
|
|
22
|
(HPO:0008972)
|
Decreased activity of mitochondrial respiratory chain |
|
|
23188110
|
IBIS
|
34 / 7739
|
|
23
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
23188110
|
IBIS
|
197 / 7739
|
|
24
|
(HPO:0000546)
|
Retinal degeneration |
|
|
23188110
|
IBIS
|
61 / 7739
|
|
25
|
(HPO:0001250)
|
Seizures |
|
|
23188110
|
IBIS
|
1245 / 7739
|
|
26
|
(HPO:0002071)
|
Abnormality of extrapyramidal motor function |
|
|
23188110
|
IBIS
|
76 / 7739
|
|
27
|
(HPO:0009063)
|
Progressive distal muscle weakness |
|
|
23188110
|
IBIS
|
4 / 7739
|
|
28
|
(HPO:0030532)
|
Visual acuity test abnormality |
|
|
23188110
|
IBIS
|
4 / 7739
|
|
29
|
(HPO:0007340)
|
Lower limb muscle weakness |
|
|
23188110
|
IBIS
|
61 / 7739
|
|
30
|
(HPO:0006135)
|
Decreased finger mobility |
|
|
23188110
|
IBIS
|
2 / 7739
|
|
31
|
(HPO:0001257)
|
Spasticity |
|
|
23188110
|
IBIS
|
251 / 7739
|
|
32
|
(HPO:0011449)
|
Knee clonus |
|
|
23188110
|
IBIS
|
10 / 7739
|
|
33
|
(HPO:0003431)
|
Decreased motor nerve conduction velocity |
|
|
23188110
|
IBIS
|
51 / 7739
|
|
34
|
(HPO:0003448)
|
Decreased sensory nerve conduction velocity |
|
|
23188110
|
IBIS
|
9 / 7739
|
|
35
|
(HPO:0003457)
|
EMG abnormality |
|
|
23188110
|
IBIS
|
78 / 7739
|
|
36
|
(HPO:0003202)
|
Skeletal muscle atrophy |
|
|
23188110
|
IBIS
|
281 / 7739
|