|
1
|
(HPO:0001371)
|
Flexion contracture |
variable [HPO:skoehler]
|
|
|
|
220 / 7739
|
|
2
|
(HPO:0001612)
|
Weak cry |
|
|
|
|
17 / 7739
|
|
3
|
(HPO:0002063)
|
Rigidity |
|
|
|
|
92 / 7739
|
|
4
|
(HPO:0002093)
|
Respiratory insufficiency |
|
|
|
|
410 / 7739
|
|
5
|
(HPO:0002104)
|
Apnea |
|
|
|
|
106 / 7739
|
|
6
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
|
7
|
(HPO:0003560)
|
Muscular dystrophy |
|
|
|
|
88 / 7739
|
|
8
|
(OMIM)
|
Respiratory insufficiency, progressive |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Decreased chest wall compliance due to muscular hypertonicity |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Muscle hypertonicity |
|
|
|
|
2 / 7739
|
|
11
|
(OMIM)
|
'Stiffness' |
|
|
|
|
5 / 7739
|
|
12
|
(OMIM)
|
EMG shows increased insertion activity and fibrillation |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Endomysial fibrosis |
|
|
|
|
4 / 7739
|
|
14
|
(OMIM)
|
Eosinophilic inclusions |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Z-band streaming |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Granular deposits in the sarcomeres |
|
|
|
|
1 / 7739
|
|
17
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
18
|
(HPO:0002878)
|
Respiratory failure |
|
|
|
|
57 / 7739
|
|
19
|
(HPO:0003678)
|
Rapidly progressive |
|
|
|
|
33 / 7739
|