1
|
(HPO:0000298)
|
Mask-like facies |
|
|
|
|
44 / 7739
|
2
|
(HPO:0000458)
|
Anosmia |
|
|
|
|
49 / 7739
|
3
|
(HPO:0000473)
|
Torticollis |
|
|
|
|
42 / 7739
|
4
|
(HPO:0000514)
|
Slow saccadic eye movements |
|
|
|
|
21 / 7739
|
5
|
(HPO:0000605)
|
Supranuclear gaze palsy |
|
|
|
|
16 / 7739
|
6
|
(HPO:0000718)
|
Aggressive behavior |
|
|
|
|
109 / 7739
|
7
|
(HPO:0000725)
|
Psychotic episodes |
|
|
|
|
6 / 7739
|
8
|
(HPO:0000726)
|
Dementia |
|
|
|
|
131 / 7739
|
9
|
(HPO:0000738)
|
Hallucinations |
|
|
|
|
60 / 7739
|
10
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
11
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
12
|
(HPO:0001300)
|
Parkinsonism |
|
|
|
|
75 / 7739
|
13
|
(HPO:0001336)
|
Myoclonus |
|
|
|
|
115 / 7739
|
14
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
15
|
(HPO:0002063)
|
Rigidity |
|
|
|
|
92 / 7739
|
16
|
(HPO:0002172)
|
Postural instability |
|
|
|
|
22 / 7739
|
17
|
(HPO:0002304)
|
Akinesia |
|
|
|
|
18 / 7739
|
18
|
(HPO:0002375)
|
Hypokinesia |
|
|
|
|
25 / 7739
|
19
|
(HPO:0002425)
|
Anarthria |
|
|
|
|
5 / 7739
|
20
|
(HPO:0002936)
|
Distal sensory impairment |
|
|
|
|
96 / 7739
|
21
|
(HPO:0003487)
|
Babinski sign |
|
|
|
|
179 / 7739
|
22
|
(HPO:0004409)
|
Hyposmia |
|
|
|
|
16 / 7739
|
23
|
(OMIM)
|
Oculogyric dystonic spasms |
|
|
|
|
2 / 7739
|
24
|
(OMIM)
|
Festinating (Parkinsonian) gait |
|
|
|
|
2 / 7739
|
25
|
(OMIM)
|
Facial-faucial-finger mini-myoclonus (FFF) |
|
|
|
|
2 / 7739
|
26
|
(OMIM)
|
Mild paraparesis |
|
|
|
|
2 / 7739
|
27
|
(HPO:0007256)
|
Abnormal pyramidal signs |
|
|
|
|
116 / 7739
|
28
|
(HPO:0002071)
|
Abnormality of extrapyramidal motor function |
|
|
|
|
76 / 7739
|
29
|
(HPO:0001332)
|
Dystonia |
|
|
|
|
197 / 7739
|
30
|
(HPO:0001327)
|
Photomyoclonic seizures |
|
|
|
|
125 / 7739
|
31
|
(HPO:0001268)
|
Mental deterioration |
|
|
|
|
88 / 7739
|
32
|
(OMIM)
|
Generalized cerebral, cerebellar, and brainstem atrophy, progressive |
|
|
|
|
2 / 7739
|
33
|
(OMIM)
|
Flattening of the caudate |
|
|
|
|
2 / 7739
|
34
|
(OMIM)
|
Atrophy of pyramids |
|
|
|
|
2 / 7739
|
35
|
(OMIM)
|
Brain iron accumulation in the basal ganglia (in some patients) |
|
|
|
|
2 / 7739
|
36
|
(OMIM)
|
Cytoplasmic lamellar inclusions consistent with neuronal ceroid lipofuscinosis (in some patients) |
|
|
|
|
2 / 7739
|