|
1
|
(HPO:0000234)
|
Abnormality of the head |
|
|
|
|
4 / 7739
|
|
2
|
(HPO:0000473)
|
Torticollis |
|
|
|
|
42 / 7739
|
|
3
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
4
|
(HPO:0001304)
|
Torsion dystonia |
|
|
|
|
13 / 7739
|
|
5
|
(HPO:0001336)
|
Myoclonus |
rare [HPO:skoehler]
|
|
|
|
115 / 7739
|
|
6
|
(HPO:0002169)
|
Clonus |
|
|
|
|
37 / 7739
|
|
7
|
(HPO:0002356)
|
Writer's cramp |
|
|
|
|
16 / 7739
|
|
8
|
(HPO:0002451)
|
Limb dystonia |
|
|
|
|
16 / 7739
|
|
9
|
(HPO:0012048)
|
Oromandibular dystonia |
|
|
|
|
7 / 7739
|
|
10
|
(HPO:0012049)
|
Laryngeal dystonia |
|
|
|
|
7 / 7739
|
|
11
|
(OMIM)
|
Facial dystonia |
|
|
|
|
6 / 7739
|
|
12
|
(OMIM)
|
Jaw dystonia |
|
|
|
|
2 / 7739
|
|
13
|
(OMIM)
|
Tongue dystonia |
|
|
|
|
2 / 7739
|
|
14
|
(OMIM)
|
Dystonia, upper and lower limbs |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Dystonia, trunk and limbs (upper and lower) |
|
|
|
|
1 / 7739
|
|
16
|
(HPO:0001618)
|
Dysphonia |
|
|
|
|
28 / 7739
|
|
17
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
18
|
(HPO:0003829)
|
Incomplete penetrance |
60 % [HPO:skoehler]
|
|
|
|
85 / 7739
|