|
1
|
(HPO:0001387)
|
Joint stiffness |
Frequent [Orphanet]
|
|
|
|
322 / 7739
|
|
2
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
3
|
(HPO:0002067)
|
Bradykinesia |
|
|
|
|
62 / 7739
|
|
4
|
(HPO:0100022)
|
Abnormality of movement |
Very frequent [Orphanet]
|
|
|
|
129 / 7739
|
|
5
|
(HPO:0001288)
|
Gait disturbance |
Frequent [Orphanet]
|
|
|
|
318 / 7739
|
|
6
|
(HPO:0000163)
|
Abnormality of the oral cavity |
Frequent [Orphanet]
|
|
|
|
37 / 7739
|
|
7
|
(HPO:0002063)
|
Rigidity |
|
|
|
|
92 / 7739
|
|
8
|
(HPO:0002075)
|
Dysdiadochokinesis |
|
|
|
|
40 / 7739
|
|
9
|
(HPO:0002375)
|
Hypokinesia |
|
|
|
|
25 / 7739
|
|
10
|
(HPO:0002395)
|
Lower limb hyperreflexia |
|
|
|
|
26 / 7739
|
|
11
|
(HPO:0003011)
|
Abnormality of the musculature |
Very frequent [Orphanet]
|
|
|
|
47 / 7739
|
|
12
|
(HPO:0007039)
|
Symmetric lesions of the basal ganglia |
|
|
|
|
2 / 7739
|
|
13
|
(OMIM)
|
Dysarthria, slowly progressive |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
No tremor |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
No response to L-Dopa treatment |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
MRI shows symmetric lesions of the basal ganglia (particularly caudate and putamen) |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Lesions show signal increase on T2- and signal decrease on T1-weighted images |
|
|
|
|
2 / 7739
|
|
18
|
(OMIM)
|
Basal ganglia lesions may be present before onset of clinical symptoms |
|
|
|
|
1 / 7739
|
|
19
|
(HPO:0002167)
|
Neurological speech impairment |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
20
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
21
|
(HPO:0003677)
|
Slow progression |
|
|
|
|
134 / 7739
|
|
22
|
(HPO:0040140)
|
Degeneration of the striatum |
|
|
|
|
1 / 7739
|