|
1
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
|
2
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
|
3
|
(HPO:0001639)
|
Hypertrophic cardiomyopathy |
|
|
|
|
137 / 7739
|
|
4
|
(HPO:0002093)
|
Respiratory insufficiency |
|
|
|
|
410 / 7739
|
|
5
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
|
6
|
(HPO:0003306)
|
Spinal rigidity |
|
|
|
|
30 / 7739
|
|
7
|
(HPO:0003418)
|
Back pain |
|
|
|
|
17 / 7739
|
|
8
|
(HPO:0003691)
|
Scapular winging |
|
|
|
|
51 / 7739
|
|
9
|
(HPO:0003701)
|
Proximal muscle weakness |
|
|
|
|
105 / 7739
|
|
10
|
(HPO:0003704)
|
Scapuloperoneal weakness |
|
|
|
|
6 / 7739
|
|
11
|
(HPO:0003805)
|
Rimmed vacuoles |
|
|
|
|
22 / 7739
|
|
12
|
(HPO:0001678)
|
Atrioventricular block |
|
|
|
|
59 / 7739
|
|
13
|
(HPO:0011675)
|
Arrhythmia |
|
|
|
|
226 / 7739
|
|
14
|
(HPO:0000466)
|
Limited neck range of motion |
|
|
|
|
5 / 7739
|
|
15
|
(OMIM)
|
Vocal cord palsy |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Bent spine |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Pseudoathletic appearance with prominent muscles before disease onset |
|
|
|
|
1 / 7739
|
|
18
|
(HPO:0009073)
|
Progressive proximal muscle weakness |
|
|
|
|
8 / 7739
|
|
19
|
(OMIM)
|
Muscle atrophy later in the disease |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Muscle biopsy shows myopathic or dystrophic changes |
|
|
|
|
1 / 7739
|
|
21
|
(HPO:0001419)
|
X-linked recessive inheritance |
|
|
|
|
189 / 7739
|
|
22
|
(HPO:0003676)
|
Progressive disorder |
|
|
|
|
148 / 7739
|