1
|
(HPO:0000505)
|
Visual impairment |
Very frequent [IBIS]
|
100% (n=10)
|
7643352
|
IBIS
|
297 / 7739
|
2
|
(HPO:0001257)
|
Spasticity |
Very frequent [IBIS]
|
100% (n=10)
|
7643352
|
IBIS
|
251 / 7739
|
3
|
(HPO:0000365)
|
Hearing impairment |
Very frequent [IBIS]
|
100% (n=10)
|
7643352
|
IBIS
|
539 / 7739
|
4
|
(HPO:0001332)
|
Dystonia |
Frequent [IBIS]
|
60% (n=10)
|
7643352
|
IBIS
|
197 / 7739
|
5
|
(HPO:0002757)
|
Recurrent fractures |
Frequent [IBIS]
|
60% (n=10)
|
7643352
|
IBIS
|
47 / 7739
|
6
|
(HPO:0000408)
|
Progressive sensorineural hearing impairment |
|
|
7643352
|
IBIS
|
28 / 7739
|
7
|
(HPO:0000512)
|
Abnormal electroretinogram |
|
|
9017058
|
IBIS
|
61 / 7739
|
8
|
(HPO:0000613)
|
Photophobia |
|
|
7643352
|
IBIS
|
158 / 7739
|
9
|
(HPO:0001133)
|
Constriction of peripheral visual field |
|
|
7643352
|
IBIS
|
33 / 7739
|
10
|
(HPO:0001260)
|
Dysarthria |
|
|
7643352
|
IBIS
|
329 / 7739
|
11
|
(HPO:0001268)
|
Mental deterioration |
|
|
7643352
|
IBIS
|
88 / 7739
|
12
|
(HPO:0001337)
|
Tremor |
|
|
22736418
|
IBIS
|
200 / 7739
|
13
|
(HPO:0001347)
|
Hyperreflexia |
|
|
7643352
|
IBIS
|
363 / 7739
|
14
|
(HPO:0002015)
|
Dysphagia |
|
|
7643352
|
IBIS
|
301 / 7739
|
15
|
(HPO:0002533)
|
Abnormal posturing |
|
|
22736418
|
IBIS
|
6 / 7739
|
16
|
(HPO:0002659)
|
Increased susceptibility to fractures |
|
|
7643352
|
IBIS
|
110 / 7739
|
17
|
(HPO:0008596)
|
Postlingual sensorineural hearing impairment |
|
|
7643352
|
IBIS
|
2 / 7739
|
18
|
(HPO:0100704)
|
Cortical visual impairment |
|
|
22736418
|
IBIS
|
28 / 7739
|
19
|
(OMIM)
|
Sensorineural deafness, postlingual, progressive |
|
|
7643352
|
IBIS
|
1 / 7739
|
20
|
(MedDRA:10017322)
|
Fractures |
|
|
7643352
|
IBIS
|
18 / 7739
|
21
|
(MedDRA:10017076)
|
Fracture |
|
|
7643352
|
IBIS
|
18 / 7739
|
22
|
(HPO:0000708)
|
Behavioral abnormality |
|
|
7643352
|
IBIS
|
212 / 7739
|
23
|
(HPO:0007663)
|
Reduced visual acuity |
|
|
7643352
|
IBIS
|
100 / 7739
|
24
|
(HPO:0004373)
|
Focal dystonia |
|
|
22736418
|
IBIS
|
9 / 7739
|
25
|
(HPO:0002451)
|
Limb dystonia |
|
|
22736418
|
IBIS
|
16 / 7739
|
26
|
(HPO:0000473)
|
Torticollis |
|
|
22736418
|
IBIS
|
42 / 7739
|
27
|
(HPO:0012179)
|
Craniofacial dystonia |
|
|
22736418
|
IBIS
|
4 / 7739
|
28
|
(HPO:0000648)
|
Optic atrophy |
|
|
22736418
|
IBIS
|
238 / 7739
|
29
|
(HPO:0000649)
|
Abnormality of visual evoked potentials |
|
|
22736418
|
IBIS
|
34 / 7739
|
30
|
(HPO:0007377)
|
Abnormality of somatosensory evoked potentials |
|
|
22736418
|
IBIS
|
2 / 7739
|
31
|
(MedDRA:10070920)
|
Visual cortex atrophy |
|
|
22736418
|
IBIS
|
1 / 7739
|
32
|
(MedDRA:10061411)
|
Visual pathway disorder |
|
|
22736418
|
IBIS
|
2 / 7739
|
33
|
(HPO:0012105)
|
Occipital cortical atrophy |
|
|
22736418
|
IBIS
|
1 / 7739
|
34
|
(HPO:0007325)
|
Generalized dystonia |
|
|
22736418
|
IBIS
|
7 / 7739
|
35
|
(HPO:0000643)
|
Blepharospasm |
|
|
22736418
|
IBIS
|
20 / 7739
|
36
|
(HPO:0001249)
|
Intellectual disability |
|
|
9017058
|
IBIS
|
1089 / 7739
|
37
|
(HPO:0002179)
|
Opisthotonus |
|
|
7643352
|
IBIS
|
35 / 7739
|
38
|
(HPO:0000718)
|
Aggressive behavior |
|
|
7643352
|
IBIS
|
109 / 7739
|
39
|
(HPO:0002650)
|
Scoliosis |
|
|
7643352
|
IBIS
|
705 / 7739
|
40
|
(HPO:0000529)
|
Progressive visual loss |
|
|
7643352
|
IBIS
|
54 / 7739
|
41
|
(HPO:0001730)
|
Progressive hearing impairment |
|
|
7643352
|
IBIS
|
29 / 7739
|
42
|
(HPO:0003676)
|
Progressive disorder |
|
|
7643352
|
IBIS
|
148 / 7739
|
43
|
(HPO:0002448)
|
Progressive encephalopathy |
|
|
7643352
|
IBIS
|
6 / 7739
|
44
|
(HPO:0000711)
|
Restlessness |
|
|
7643352
|
IBIS
|
18 / 7739
|
45
|
(HPO:0000739)
|
Anxiety |
|
|
7643352
|
IBIS
|
67 / 7739
|
46
|
(HPO:0000737)
|
Irritability |
|
|
7643352
|
IBIS
|
93 / 7739
|
47
|
(HPO:0000709)
|
Psychosis |
|
|
7643352
|
IBIS
|
61 / 7739
|
48
|
(OMIM)
|
Retinal dysfunction |
|
|
7643352
|
IBIS
|
2 / 7739
|
49
|
(HPO:0000488)
|
Retinopathy |
|
|
7643352
|
IBIS
|
75 / 7739
|
50
|
(HPO:0000603)
|
Central scotoma |
|
|
7643352
|
IBIS
|
18 / 7739
|