|
1
|
(HPO:0001257)
|
Spasticity |
Very frequent [IBIS]
|
100% (n=23)
|
16672289
|
IBIS
|
251 / 7739
|
|
2
|
(HPO:0001272)
|
Cerebellar atrophy |
Very frequent [IBIS]
|
100% (n=23)
|
16672289
|
IBIS
|
197 / 7739
|
|
3
|
(HPO:0001347)
|
Hyperreflexia |
Very frequent [IBIS]
|
100% (n=23)
|
16672289
|
IBIS
|
363 / 7739
|
|
4
|
(HPO:0001251)
|
Ataxia |
Very frequent [IBIS]
|
100% (n=23)
|
16672289
|
IBIS
|
413 / 7739
|
|
5
|
(HPO:0002497)
|
Spastic ataxia |
Very frequent [IBIS]
|
100% (n=23)
|
16672289
|
IBIS
|
13 / 7739
|
|
6
|
(HPO:0001260)
|
Dysarthria |
Frequent [IBIS]
74% [HPO:probinson]
|
74% (n=23)
|
16672289
|
IBIS
|
329 / 7739
|
|
7
|
(HPO:0002464)
|
Spastic dysarthria |
Frequent [IBIS]
|
74% (n=23)
|
16672289
|
IBIS
|
5 / 7739
|
|
8
|
(HPO:0000012)
|
Urinary urgency |
Frequent [IBIS]
57% [HPO]
|
57% (n=23)
|
16672289
|
IBIS
|
35 / 7739
|
|
9
|
(HPO:0001332)
|
Dystonia |
Frequent [IBIS]
|
57% (n=23)
|
16672289
|
IBIS
|
197 / 7739
|
|
10
|
(HPO:0000011)
|
Neurogenic bladder |
Frequent [IBIS]
|
57% (n=23)
|
16672289
|
IBIS
|
11 / 7739
|
|
11
|
(MedDRA:10047920)
|
Wheelchair user |
Frequent [IBIS]
|
52% (n=23)
|
16672289
|
IBIS
|
3 / 7739
|
|
12
|
(HPO:0002500)
|
Abnormality of the cerebral white matter |
Frequent [IBIS]
|
52% (n=23)
|
16672289
|
IBIS
|
73 / 7739
|
|
13
|
(HPO:0000666)
|
Horizontal nystagmus |
Frequent [IBIS]
|
44% (n=23)
|
16672289
|
IBIS
|
32 / 7739
|
|
14
|
(HPO:0100543)
|
Cognitive impairment |
Frequent [IBIS]
|
44% (n=23)
|
16672289
|
IBIS
|
230 / 7739
|
|
15
|
(HPO:0002059)
|
Cerebral atrophy |
Frequent [IBIS]
|
43% (n=23)
|
16672289
|
IBIS
|
171 / 7739
|
|
16
|
(HPO:0002352)
|
Leukoencephalopathy |
Frequent [IBIS]
52% [HPO:skoehler]
|
|
16672289
|
IBIS
|
32 / 7739
|
|
17
|
(HPO:0012712)
|
Mild hearing impairment |
Occasional [IBIS]
|
13% (n=23)
|
16672289
|
IBIS
|
3 / 7739
|
|
18
|
(HPO:0000648)
|
Optic atrophy |
Occasional [IBIS]
|
9% (n=23)
|
16672289
|
IBIS
|
238 / 7739
|
|
19
|
(HPO:0000518)
|
Cataract |
Occasional [IBIS]
|
9% (n=23)
|
16672289
|
IBIS
|
454 / 7739
|
|
20
|
(HPO:0002120)
|
Cerebral cortical atrophy |
Occasional [IBIS]
|
|
16672289
|
IBIS
|
187 / 7739
|
|
21
|
(HPO:0002650)
|
Scoliosis |
Frquent [IBIS]
35% [HPO]
|
35% (n=23)
|
16672289
|
IBIS
|
705 / 7739
|
|
22
|
(HPO:0000365)
|
Hearing impairment |
|
|
16672289
|
IBIS
|
539 / 7739
|
|
23
|
(HPO:0002066)
|
Gait ataxia |
|
|
16672289
|
IBIS
|
327 / 7739
|
|
24
|
(HPO:0001273)
|
Abnormality of the corpus callosum |
|
|
16672289
|
IBIS
|
20 / 7739
|
|
25
|
(HPO:0011923)
|
Decreased activity of mitochondrial complex I |
|
|
22448145
|
IBIS
|
35 / 7739
|
|
26
|
(HPO:0008972)
|
Decreased activity of mitochondrial respiratory chain |
|
|
22448145
|
IBIS
|
34 / 7739
|