|
1
|
(HPO:0000473)
|
Torticollis |
|
|
|
|
42 / 7739
|
|
2
|
(HPO:0000716)
|
Depression |
|
|
|
|
99 / 7739
|
|
3
|
(HPO:0000722)
|
Obsessive-compulsive behavior |
|
|
|
|
35 / 7739
|
|
4
|
(HPO:0000739)
|
Anxiety |
|
|
|
|
67 / 7739
|
|
5
|
(HPO:0000756)
|
Agoraphobia |
|
|
|
|
4 / 7739
|
|
6
|
(HPO:0001252)
|
Muscular hypotonia |
rare [HPO:skoehler]
|
|
|
|
990 / 7739
|
|
7
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
8
|
(HPO:0001336)
|
Myoclonus |
|
|
|
|
115 / 7739
|
|
9
|
(HPO:0001337)
|
Tremor |
|
|
|
|
200 / 7739
|
|
10
|
(HPO:0002356)
|
Writer's cramp |
|
|
|
|
16 / 7739
|
|
11
|
(OMIM)
|
Myoclonus, axial (predominantly in upper limbs, occurs at rest and increases with activity or changes in posture) |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Subcortical origin of the myoclonus based on neurophysiologic studies |
|
|
|
|
1 / 7739
|
|
13
|
(HPO:0001332)
|
Dystonia |
|
|
|
|
197 / 7739
|
|
14
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
15
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
16
|
(MedDRA:10033664)
|
Panic attack |
|
|
|
|
2 / 7739
|
|
17
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
18
|
(HPO:0003621)
|
Juvenile onset |
|
|
|
|
105 / 7739
|
|
19
|
(HPO:0003829)
|
Incomplete penetrance |
|
|
|
|
85 / 7739
|