|
1
|
(HPO:0000012)
|
Urinary urgency |
|
|
|
|
35 / 7739
|
|
2
|
(HPO:0000716)
|
Depression |
|
|
|
|
99 / 7739
|
|
3
|
(HPO:0000726)
|
Dementia |
|
|
|
|
131 / 7739
|
|
4
|
(HPO:0000739)
|
Anxiety |
|
|
|
|
67 / 7739
|
|
5
|
(HPO:0001300)
|
Parkinsonism |
|
|
|
|
75 / 7739
|
|
6
|
(HPO:0001332)
|
Dystonia |
|
|
|
|
197 / 7739
|
|
7
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
8
|
(HPO:0002267)
|
Exaggerated startle response |
|
|
|
|
42 / 7739
|
|
9
|
(HPO:0007034)
|
Generalized hyperreflexia |
|
|
|
|
33 / 7739
|
|
10
|
(HPO:0002063)
|
Rigidity |
|
|
|
|
92 / 7739
|
|
11
|
(HPO:0002067)
|
Bradykinesia |
|
|
|
|
62 / 7739
|
|
12
|
(HPO:0002172)
|
Postural instability |
|
|
|
|
22 / 7739
|
|
13
|
(HPO:0002322)
|
Resting tremor |
|
|
|
|
14 / 7739
|
|
14
|
(OMIM)
|
Asymmetry at onset (74%) |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Dystonia at onset (16%) |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Gait impairment |
|
|
|
|
2 / 7739
|
|
17
|
(OMIM)
|
Sleep benefit (31%) |
|
|
|
|
1 / 7739
|
|
18
|
(HPO:0002270)
|
Abnormality of the autonomic nervous system |
|
|
|
|
22 / 7739
|
|
19
|
(HPO:0002271)
|
Autonomic dysregulation |
|
|
|
|
11 / 7739
|
|
20
|
(HPO:0002459)
|
Dysautonomia |
|
|
|
|
34 / 7739
|
|
21
|
(HPO:0000708)
|
Behavioral abnormality |
|
|
|
|
212 / 7739
|
|
22
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
23
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|
|
24
|
(HPO:0003677)
|
Slow progression |
|
|
|
|
134 / 7739
|