1
|
(HPO:0000708)
|
Behavioral abnormality |
Frequent [Orphanet]
|
|
11723754
|
IBIS
|
212 / 7739
|
2
|
(HPO:0000726)
|
Dementia |
Frequent [Orphanet]
|
|
15381897
|
IBIS
|
131 / 7739
|
3
|
(HPO:0001268)
|
Mental deterioration |
Frequent [Orphanet]
typical [HPO]
|
|
1293994
|
IBIS
|
88 / 7739
|
4
|
(HPO:0002361)
|
Psychomotor deterioration |
Frequent [Orphanet]
typical [HPO]
|
|
19901559
|
IBIS
|
26 / 7739
|
5
|
(HPO:0002376)
|
Developmental regression |
Frequent [Orphanet]
|
|
15526960
|
IBIS
|
74 / 7739
|
6
|
(HPO:0002353)
|
EEG abnormality |
Frequent [Orphanet]
|
|
25015843
|
IBIS
|
188 / 7739
|
7
|
(HPO:0100022)
|
Abnormality of movement |
Frequent [Orphanet]
|
|
15381897
|
IBIS
|
129 / 7739
|
8
|
(HPO:0001608)
|
Abnormality of the voice |
Frequent [Orphanet]
|
|
23762447
|
IBIS
|
126 / 7739
|
9
|
(HPO:0001611)
|
Nasal speech |
Frequent [Orphanet]
|
|
5808852
|
IBIS
|
48 / 7739
|
10
|
(HPO:0008376)
|
Nasal, dysarthic speech |
Frequent [Orphanet]
|
|
23853009
|
IBIS
|
8 / 7739
|
11
|
(HPO:0100271)
|
Hyponasal speech |
Frequent [Orphanet]
|
|
5808852
|
IBIS
|
7 / 7739
|
12
|
(HPO:0002120)
|
Cerebral cortical atrophy |
Frequent [Orphanet]
|
|
2145146
|
IBIS
|
187 / 7739
|
13
|
(HPO:0100308)
|
Cerebral cortical hemiatrophy |
Frequent [Orphanet]
|
|
20720508
|
IBIS
|
7 / 7739
|
14
|
(HPO:0001257)
|
Spasticity |
Frequent [Orphanet]
|
|
12820545
|
IBIS
|
251 / 7739
|
15
|
(HPO:0001276)
|
Hypertonia |
Frequent [Orphanet]
|
|
8158206
|
IBIS
|
317 / 7739
|
16
|
(HPO:0002063)
|
Rigidity |
Frequent [Orphanet]
Occasional [HPO]
|
|
23671115
|
IBIS
|
92 / 7739
|
17
|
(HPO:0000570)
|
Abnormality of saccadic eye movements |
|
|
18185924
|
IBIS
|
12 / 7739
|
18
|
(HPO:0000716)
|
Depression |
|
|
23678106
|
IBIS
|
99 / 7739
|
19
|
(HPO:0000751)
|
Personality changes |
|
|
24566795
|
IBIS
|
33 / 7739
|
20
|
(HPO:0001347)
|
Hyperreflexia |
|
|
2145146
|
IBIS
|
363 / 7739
|
21
|
(HPO:0002267)
|
Exaggerated startle response |
|
|
23874679
|
IBIS
|
42 / 7739
|
22
|
(HPO:0007034)
|
Generalized hyperreflexia |
|
|
10749290
|
IBIS
|
33 / 7739
|
23
|
(HPO:0002067)
|
Bradykinesia |
|
|
20804986
|
IBIS
|
62 / 7739
|
24
|
(HPO:0002072)
|
Chorea |
|
|
20804986
|
IBIS
|
53 / 7739
|
25
|
(HPO:0002171)
|
Gliosis |
|
|
22359398
|
IBIS
|
48 / 7739
|
26
|
(HPO:0002529)
|
Neuronal loss in central nervous system |
|
|
15836623
|
IBIS
|
37 / 7739
|
27
|
(OMIM)
|
Oral motor dysfunction (juvenile form) |
|
|
2146877
|
IBIS
|
2 / 7739
|
28
|
(HPO:0001250)
|
Seizures |
|
|
11553930
|
IBIS
|
1245 / 7739
|
29
|
(HPO:0001327)
|
Photomyoclonic seizures |
|
|
149349
|
IBIS
|
125 / 7739
|
30
|
(HPO:0001251)
|
Ataxia |
|
|
12820545
|
IBIS
|
413 / 7739
|
31
|
(HPO:0002066)
|
Gait ataxia |
|
|
20804986
|
IBIS
|
327 / 7739
|
32
|
(HPO:0002311)
|
Incoordination |
|
|
25123926
|
IBIS
|
84 / 7739
|
33
|
(OMIM)
|
Neuronal loss and gliosis in caudate and putamen |
|
|
23754216
|
IBIS
|
2 / 7739
|
34
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
15452288
|
IBIS
|
197 / 7739
|
35
|
(HPO:0000514)
|
Slow saccadic eye movements |
|
|
9425536
|
IBIS
|
21 / 7739
|
36
|
(HPO:0000713)
|
Agitation |
|
|
20301482
|
IBIS
|
18 / 7739
|
37
|
(HPO:0000739)
|
Anxiety |
|
|
20301482
|
IBIS
|
67 / 7739
|
38
|
(HPO:0000741)
|
Apathy |
|
|
20301482
|
IBIS
|
42 / 7739
|
39
|
(HPO:0002312)
|
Clumsiness |
|
|
20301482
|
IBIS
|
28 / 7739
|
40
|
(HPO:0000746)
|
Delusions |
|
|
20301482
|
IBIS
|
21 / 7739
|
41
|
(HPO:0000738)
|
Hallucinations |
|
|
20301482
|
IBIS
|
60 / 7739
|
42
|
(HPO:0000737)
|
Irritability |
|
|
20301482
|
IBIS
|
93 / 7739
|
43
|
(HPO:0000734)
|
Disinhibition |
|
|
20301482
|
IBIS
|
13 / 7739
|
44
|
(HPO:0001332)
|
Dystonia |
|
|
20301482
|
IBIS
|
197 / 7739
|
45
|
(MedDRA:10065954)
|
Stubbornness |
|
|
20301482
|
IBIS
|
5 / 7739
|
46
|
(HPO:0001824)
|
Weight loss |
|
|
20301482
|
IBIS
|
42 / 7739
|
47
|
(HPO:0002015)
|
Dysphagia |
|
|
20301482
|
IBIS
|
301 / 7739
|
48
|
(HPO:0002360)
|
Sleep disturbance |
|
|
21171977
|
IBIS
|
113 / 7739
|
49
|
(HPO:0002304)
|
Akinesia |
|
|
21171977
|
IBIS
|
18 / 7739
|
50
|
(MedDRA:10050280)
|
Self esteem decreased |
|
|
21171977
|
IBIS
|
1 / 7739
|
51
|
(MedDRA:10009191)
|
Circadian rhythm sleep disorder |
|
|
21171977
|
IBIS
|
1 / 7739
|
52
|
(MedDRA:10042464)
|
Suicide attempt |
|
|
21171977
|
IBIS
|
1 / 7739
|
53
|
(MedDRA:10008589)
|
Choking |
|
|
21171977
|
IBIS
|
6 / 7739
|
54
|
(HPO:0100033)
|
Tics |
|
|
21171977
|
IBIS
|
6 / 7739
|
55
|
(MedDRA:10049708)
|
Feeling guilty |
|
|
21171977
|
IBIS
|
1 / 7739
|