|
1
|
(HPO:0000275)
|
Narrow face |
|
|
|
|
76 / 7739
|
|
2
|
(HPO:0000473)
|
Torticollis |
|
|
|
|
42 / 7739
|
|
3
|
(HPO:0001304)
|
Torsion dystonia |
|
|
|
|
13 / 7739
|
|
4
|
(HPO:0001618)
|
Dysphonia |
|
|
|
|
28 / 7739
|
|
5
|
(HPO:0002015)
|
Dysphagia |
|
|
|
|
301 / 7739
|
|
6
|
(HPO:0002451)
|
Limb dystonia |
|
|
|
|
16 / 7739
|
|
7
|
(HPO:0007325)
|
Generalized dystonia |
|
|
|
|
7 / 7739
|
|
8
|
(OMIM)
|
Thin body habitus |
|
|
|
|
5 / 7739
|
|
9
|
(OMIM)
|
Hollowed cheeks |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Bradykinetic tongue |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Laryngeal adductor spasmodic dysphonia |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Abnormal 'hobby horse' ataxic gait |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Whispering dysphonia |
|
|
|
|
1 / 7739
|
|
14
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
15
|
(HPO:0002066)
|
Gait ataxia |
|
|
|
|
327 / 7739
|
|
16
|
(HPO:0009938)
|
Sunken cheeks |
|
|
|
|
1 / 7739
|