|
1
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
2
|
(HPO:0001288)
|
Gait disturbance |
|
|
|
|
318 / 7739
|
|
3
|
(HPO:0001332)
|
Dystonia |
|
|
|
|
197 / 7739
|
|
4
|
(HPO:0002145)
|
Frontotemporal dementia |
|
|
|
|
14 / 7739
|
|
5
|
(HPO:0002357)
|
Dysphasia |
|
|
|
|
33 / 7739
|
|
6
|
(HPO:0002644)
|
Abnormality of pelvic girdle bone morphology |
|
|
|
|
31 / 7739
|
|
7
|
(HPO:0002938)
|
Lumbar hyperlordosis |
|
|
|
|
73 / 7739
|
|
8
|
(HPO:0003198)
|
Myopathy |
|
|
|
|
151 / 7739
|
|
9
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
|
10
|
(HPO:0003418)
|
Back pain |
|
|
|
|
17 / 7739
|
|
11
|
(HPO:0003547)
|
Shoulder girdle muscle weakness |
|
|
|
|
21 / 7739
|
|
12
|
(HPO:0003551)
|
Difficulty climbing stairs |
|
|
|
|
23 / 7739
|
|
13
|
(HPO:0003690)
|
Limb muscle weakness |
|
|
|
|
41 / 7739
|
|
14
|
(HPO:0003691)
|
Scapular winging |
|
|
|
|
51 / 7739
|
|
15
|
(HPO:0003693)
|
Distal amyotrophy |
|
|
|
|
118 / 7739
|
|
16
|
(HPO:0003701)
|
Proximal muscle weakness |
|
|
|
|
105 / 7739
|
|
17
|
(HPO:0003724)
|
Shoulder girdle muscle atrophy |
|
|
|
|
14 / 7739
|
|
18
|
(HPO:0003749)
|
Pelvic girdle muscle weakness |
|
|
|
|
15 / 7739
|
|
19
|
(HPO:0003805)
|
Rimmed vacuoles |
|
|
|
|
22 / 7739
|
|
20
|
(HPO:0006913)
|
Frontal cortical atrophy |
|
|
|
|
2 / 7739
|
|
21
|
(HPO:0007112)
|
Temporal cortical atrophy |
|
|
|
|
1 / 7739
|
|
22
|
(HPO:0007354)
|
Amyotrophic lateral sclerosis |
|
|
|
|
25 / 7739
|
|
23
|
(HPO:0008946)
|
Pelvic girdle amyotrophy |
|
|
|
|
2 / 7739
|
|
24
|
(HPO:0008988)
|
Pelvic girdle muscle atrophy |
|
|
|
|
5 / 7739
|
|
25
|
(HPO:0010628)
|
Facial palsy |
rare [HPO:skoehler]
|
|
|
|
146 / 7739
|
|
26
|
(HPO:0010639)
|
Elevated alkaline phosphatase of bone origin |
|
|
|
|
3 / 7739
|