1
|
(HPO:0002497)
|
Spastic ataxia |
Very frequent [IBIS]
|
100% (n=9)
|
20108356
|
IBIS
|
13 / 7739
|
2
|
(HPO:0001258)
|
Spastic paraplegia |
Very frequent [IBIS]
|
|
22266886
|
IBIS
|
97 / 7739
|
3
|
(HPO:0001260)
|
Dysarthria |
Frequent [IBIS]
|
44% (n=9)
|
24727571
|
IBIS
|
329 / 7739
|
4
|
(HPO:0002839)
|
Urinary bladder sphincter dysfunction |
Frequent [IBIS]
|
33% (n=9)
|
24727571
|
IBIS
|
34 / 7739
|
5
|
(HPO:0007340)
|
Lower limb muscle weakness |
Frequent [IBIS]
|
|
11377972
|
IBIS
|
61 / 7739
|
6
|
(HPO:0001272)
|
Cerebellar atrophy |
Frequent [IBIS]
|
|
24466038
|
IBIS
|
197 / 7739
|
7
|
(HPO:0003200)
|
Ragged-red muscle fibers |
Occasional [IBIS]
|
|
22266886
|
IBIS
|
37 / 7739
|
8
|
(HPO:0003688)
|
Decreased activity of cytochrome C oxidase in muscle tissue |
Occasional [IBIS]
|
|
22266886
|
IBIS
|
20 / 7739
|
9
|
(HPO:0011923)
|
Decreased activity of mitochondrial complex I |
Occasional [IBIS]
|
|
22266886
|
IBIS
|
35 / 7739
|
10
|
(HPO:0008972)
|
Decreased activity of mitochondrial respiratory chain |
Occasional [IBIS]
|
|
22266886
|
IBIS
|
34 / 7739
|
11
|
(HPO:0009830)
|
Peripheral neuropathy |
Occasional [IBIS]
|
|
22266886
|
IBIS
|
206 / 7739
|
12
|
(HPO:0000012)
|
Urinary urgency |
|
|
24466038
|
IBIS
|
35 / 7739
|
13
|
(HPO:0000020)
|
Urinary incontinence |
|
|
24466038
|
IBIS
|
75 / 7739
|
14
|
(HPO:0000648)
|
Optic atrophy |
|
|
22266886
|
IBIS
|
238 / 7739
|
15
|
(HPO:0000639)
|
Nystagmus |
|
|
20108356
|
IBIS
|
555 / 7739
|
16
|
(HPO:0002166)
|
Impaired vibration sensation in the lower limbs |
|
|
11377972
|
IBIS
|
26 / 7739
|
17
|
(HPO:0001347)
|
Hyperreflexia |
|
|
20108356
|
IBIS
|
363 / 7739
|
18
|
(HPO:0007256)
|
Abnormal pyramidal signs |
|
|
20108356
|
IBIS
|
116 / 7739
|
19
|
(HPO:0002066)
|
Gait ataxia |
|
|
24727571
|
IBIS
|
327 / 7739
|
20
|
(HPO:0002015)
|
Dysphagia |
|
|
20108356
|
IBIS
|
301 / 7739
|
21
|
(HPO:0003487)
|
Babinski sign |
|
|
24466038
|
IBIS
|
179 / 7739
|
22
|
(HPO:0002061)
|
Lower limb spasticity |
|
|
20108356
|
IBIS
|
56 / 7739
|
23
|
(HPO:0002064)
|
Spastic gait |
|
|
24727571
|
IBIS
|
46 / 7739
|
24
|
(HPO:0001761)
|
Pes cavus |
|
|
24466038
|
IBIS
|
225 / 7739
|
25
|
(HPO:0002650)
|
Scoliosis |
|
|
24466038
|
IBIS
|
705 / 7739
|
26
|
(HPO:0002314)
|
Degeneration of the lateral corticospinal tracts |
|
|
24727571
|
IBIS
|
9 / 7739
|
27
|
(MedDRA:10048327)
|
Supranuclear palsy |
|
|
22266886
|
IBIS
|
2 / 7739
|
28
|
(HPO:0100543)
|
Cognitive impairment |
|
|
24466038
|
IBIS
|
230 / 7739
|
29
|
(HPO:0001273)
|
Abnormality of the corpus callosum |
|
|
20108356
|
IBIS
|
20 / 7739
|
30
|
(HPO:0003474)
|
Sensory impairment |
|
|
20108356
|
IBIS
|
54 / 7739
|
31
|
(HPO:0002313)
|
Spastic paraparesis |
|
|
20108356
|
IBIS
|
33 / 7739
|
32
|
(HPO:0008969)
|
Leg muscle stiffness |
|
|
20108356
|
IBIS
|
5 / 7739
|
33
|
(HPO:0001488)
|
Bilateral ptosis |
|
|
20108356
|
IBIS
|
42 / 7739
|
34
|
(HPO:0007838)
|
Progressive ptosis |
|
|
20108356
|
IBIS
|
2 / 7739
|
35
|
(HPO:0000492)
|
Abnormality of the eyelid |
|
|
20108356
|
IBIS
|
41 / 7739
|
36
|
(HPO:0002500)
|
Abnormality of the cerebral white matter |
|
|
20108356
|
IBIS
|
73 / 7739
|
37
|
(HPO:0000590)
|
Progressive external ophthalmoplegia |
|
|
24727571
|
IBIS
|
23 / 7739
|
38
|
(HPO:0007370)
|
Aplasia/Hypoplasia of the corpus callosum |
|
|
24466038
|
IBIS
|
180 / 7739
|
39
|
(HPO:0000488)
|
Retinopathy |
|
|
24466038
|
IBIS
|
75 / 7739
|
40
|
(HPO:0001332)
|
Dystonia |
|
|
24466038
|
IBIS
|
197 / 7739
|
41
|
(HPO:0006986)
|
Upper limb spasticity |
|
|
24466038
|
IBIS
|
15 / 7739
|
42
|
(HPO:0003484)
|
Upper limb muscle weakness |
|
|
24466038
|
IBIS
|
19 / 7739
|
43
|
(HPO:0002070)
|
Limb ataxia |
|
|
24466038
|
IBIS
|
41 / 7739
|
44
|
(HPO:0002078)
|
Truncal ataxia |
|
|
24466038
|
IBIS
|
41 / 7739
|
45
|
(MedDRA:10046494)
|
Urge incontinence |
|
|
24466038
|
IBIS
|
2 / 7739
|
46
|
(HPO:0002495)
|
Impaired vibratory sensation |
|
|
24466038
|
IBIS
|
26 / 7739
|
47
|
(HPO:0000365)
|
Hearing impairment |
|
|
24466038
|
IBIS
|
539 / 7739
|
48
|
(HPO:0003202)
|
Skeletal muscle atrophy |
|
|
24466038
|
IBIS
|
281 / 7739
|
49
|
(HPO:0011924)
|
Decreased activity of mitochondrial complex III |
|
|
24466038
|
IBIS
|
22 / 7739
|
50
|
(HPO:0008347)
|
Decreased activity of mitochondrial complex IV |
|
|
24466038
|
IBIS
|
31 / 7739
|
51
|
(HPO:0001271)
|
Polyneuropathy |
|
|
24954637
|
IBIS
|
56 / 7739
|