1
|
(HPO:0000643)
|
Blepharospasm |
|
|
|
|
20 / 7739
|
2
|
(HPO:0001332)
|
Dystonia |
Very frequent [Orphanet]
|
|
|
|
197 / 7739
|
3
|
(HPO:0002356)
|
Writer's cramp |
|
|
|
|
16 / 7739
|
4
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
5
|
(HPO:0001618)
|
Dysphonia |
|
|
|
|
28 / 7739
|
6
|
(HPO:0001266)
|
Choreoathetosis |
|
|
|
|
57 / 7739
|
7
|
(HPO:0000496)
|
Abnormality of eye movement |
Frequent [Orphanet]
|
|
|
|
79 / 7739
|
8
|
(HPO:0002615)
|
Hypotension |
Occasional [Orphanet]
|
|
|
|
52 / 7739
|
9
|
(HPO:0001337)
|
Tremor |
Occasional [Orphanet]
|
|
|
|
200 / 7739
|
10
|
(HPO:0001288)
|
Gait disturbance |
Frequent [Orphanet]
|
|
|
|
318 / 7739
|
11
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
12
|
(HPO:0001276)
|
Hypertonia |
Very frequent [Orphanet]
|
|
|
|
317 / 7739
|
13
|
(HPO:0002063)
|
Rigidity |
|
|
|
|
92 / 7739
|
14
|
(HPO:0002015)
|
Dysphagia |
Frequent [Orphanet]
|
|
|
|
301 / 7739
|
15
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
16
|
(HPO:0002066)
|
Gait ataxia |
Very frequent [Orphanet]
|
|
|
|
327 / 7739
|
17
|
(HPO:0002067)
|
Bradykinesia |
|
|
|
|
62 / 7739
|
18
|
(HPO:0000726)
|
Dementia |
|
|
|
|
131 / 7739
|
19
|
(HPO:0002019)
|
Constipation |
Occasional [Orphanet]
|
|
|
|
194 / 7739
|
20
|
(HPO:0000712)
|
Emotional lability |
|
|
|
|
44 / 7739
|
21
|
(HPO:0000734)
|
Disinhibition |
|
|
|
|
13 / 7739
|
22
|
(HPO:0001300)
|
Parkinsonism |
|
|
|
|
75 / 7739
|
23
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
24
|
(HPO:0002167)
|
Neurological speech impairment |
Occasional [Orphanet]
|
|
|
|
308 / 7739
|
25
|
(HPO:0002300)
|
Mutism |
|
|
|
|
28 / 7739
|
26
|
(HPO:0002425)
|
Anarthria |
|
|
|
|
5 / 7739
|
27
|
(HPO:0003487)
|
Babinski sign |
|
|
|
|
179 / 7739
|
28
|
(HPO:0004372)
|
Reduced consciousness/confusion |
Occasional [Orphanet]
|
|
|
|
73 / 7739
|
29
|
(HPO:0007007)
|
Cavitation of the basal ganglia |
|
|
|
|
2 / 7739
|
30
|
(HPO:0012049)
|
Laryngeal dystonia |
|
|
|
|
7 / 7739
|
31
|
(HPO:0012343)
|
Decreased serum ferritin |
|
|
|
|
1 / 7739
|
32
|
(OMIM)
|
Orolingual dyskinesia |
|
|
|
|
1 / 7739
|
33
|
(OMIM)
|
Orofacial dystonia |
|
|
|
|
2 / 7739
|
34
|
(OMIM)
|
Oromandibular dyskinesia |
|
|
|
|
2 / 7739
|
35
|
(OMIM)
|
Hypomimia |
|
|
|
|
3 / 7739
|
36
|
(OMIM)
|
Palatal tremor |
|
|
|
|
2 / 7739
|
37
|
(OMIM)
|
Pharyngeal dystonia |
|
|
|
|
1 / 7739
|
38
|
(MedDRA:10057333)
|
Micrographia |
|
|
|
|
3 / 7739
|
39
|
(OMIM)
|
Involuntary movements, asymmetric |
|
|
|
|
1 / 7739
|
40
|
(OMIM)
|
Gait disability |
|
|
|
|
1 / 7739
|
41
|
(HPO:0002071)
|
Abnormality of extrapyramidal motor function |
|
|
|
|
76 / 7739
|
42
|
(HPO:0004373)
|
Focal dystonia |
|
|
|
|
9 / 7739
|
43
|
(HPO:0001317)
|
Abnormality of the cerebellum |
|
|
|
|
36 / 7739
|
44
|
(OMIM)
|
Cognitive defects develop later in the disease |
|
|
|
|
1 / 7739
|
45
|
(OMIM)
|
Frontotemporal/subcortical dementia |
|
|
|
|
1 / 7739
|
46
|
(OMIM)
|
Autonomic features may occur |
|
|
|
|
2 / 7739
|
47
|
(OMIM)
|
Neuroaxonal spheroids |
|
|
|
|
1 / 7739
|
48
|
(OMIM)
|
MRI imaging shows cavitation of the basal ganglia |
|
|
|
|
1 / 7739
|
49
|
(OMIM)
|
Brain tissue shows cavitation of the basal ganglia |
|
|
|
|
1 / 7739
|
50
|
(OMIM)
|
Brain tissue shows abnormal spherical aggregates of iron and ferritin in the basal ganglia, forebrain, and cerebellum |
|
|
|
|
1 / 7739
|
51
|
(HPO:0100022)
|
Abnormality of movement |
Frequent [Orphanet]
|
|
|
|
129 / 7739
|
52
|
(HPO:0100543)
|
Cognitive impairment |
Occasional [Orphanet]
|
|
|
|
230 / 7739
|
53
|
(HPO:0004305)
|
Involuntary movements |
Very frequent [Orphanet]
|
|
|
|
50 / 7739
|
54
|
(HPO:0011442)
|
Abnormality of central motor function |
Frequent [Orphanet]
|
|
|
|
76 / 7739
|
55
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
56
|
(HPO:0002180)
|
Neurodegeneration |
|
|
|
|
31 / 7739
|
57
|
(HPO:0003676)
|
Progressive disorder |
|
|
|
|
148 / 7739
|
58
|
(HPO:0003812)
|
Phenotypic variability |
|
|
|
|
129 / 7739
|