|
1
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
|
2
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
|
3
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
|
4
|
(HPO:0001644)
|
Dilated cardiomyopathy |
rare [HPO:skoehler]
|
|
|
|
141 / 7739
|
|
5
|
(HPO:0002359)
|
Frequent falls |
|
|
|
|
24 / 7739
|
|
6
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
7
|
(HPO:0002747)
|
Respiratory insufficiency due to muscle weakness |
|
|
|
|
48 / 7739
|
|
8
|
(HPO:0002808)
|
Kyphosis |
|
|
|
|
289 / 7739
|
|
9
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
|
10
|
(HPO:0003306)
|
Spinal rigidity |
|
|
|
|
30 / 7739
|
|
11
|
(HPO:0003307)
|
Hyperlordosis |
|
|
|
|
122 / 7739
|
|
12
|
(HPO:0003557)
|
Increased variability in muscle fiber diameter |
|
|
|
|
24 / 7739
|
|
13
|
(HPO:0003701)
|
Proximal muscle weakness |
|
|
|
|
105 / 7739
|
|
14
|
(OMIM)
|
Hyperextended neck |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Most patients become ventilator-dependent |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Winging of the scapulae |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Decreased spinal mobility |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Cervical hyperextension |
|
|
|
|
1 / 7739
|
|
19
|
(HPO:0009073)
|
Progressive proximal muscle weakness |
|
|
|
|
8 / 7739
|
|
20
|
(OMIM)
|
Skeletal muscle biopsy shows reducing bodies |
|
|
|
|
2 / 7739
|
|
21
|
(OMIM)
|
Inclusions stain positively with nitroblue tetrazolium (NBT) |
|
|
|
|
2 / 7739
|
|
22
|
(OMIM)
|
Cytoplasmic inclusion bodies |
|
|
|
|
2 / 7739
|
|
23
|
(OMIM)
|
Internal nuclei |
|
|
|
|
9 / 7739
|
|
24
|
(HPO:0001417)
|
X-linked inheritance |
|
|
|
|
173 / 7739
|
|
25
|
(HPO:0003678)
|
Rapidly progressive |
|
|
|
|
33 / 7739
|