|
1
|
(HPO:0001387)
|
Joint stiffness |
Very frequent [Orphanet]
|
|
|
|
322 / 7739
|
|
2
|
(HPO:0003457)
|
EMG abnormality |
Very frequent [Orphanet]
|
|
|
|
78 / 7739
|
|
3
|
(HPO:0003198)
|
Myopathy |
Very frequent [Orphanet]
|
|
|
|
151 / 7739
|
|
4
|
(HPO:0004326)
|
Cachexia |
Very frequent [Orphanet]
|
|
|
|
71 / 7739
|
|
5
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
|
6
|
(HPO:0100490)
|
Camptodactyly of finger |
Very frequent [Orphanet]
|
|
|
|
212 / 7739
|
|
7
|
(HPO:0000473)
|
Torticollis |
|
|
|
|
42 / 7739
|
|
8
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
9
|
(HPO:0001319)
|
Neonatal hypotonia |
|
|
|
|
101 / 7739
|
|
10
|
(HPO:0001558)
|
Decreased fetal movement |
|
|
|
|
74 / 7739
|
|
11
|
(HPO:0001626)
|
Abnormality of the cardiovascular system |
|
|
|
|
73 / 7739
|
|
12
|
(HPO:0002460)
|
Distal muscle weakness |
|
|
|
|
122 / 7739
|
|
13
|
(HPO:0002747)
|
Respiratory insufficiency due to muscle weakness |
|
|
|
|
48 / 7739
|
|
14
|
(HPO:0002987)
|
Elbow flexion contracture |
|
|
|
|
64 / 7739
|
|
15
|
(HPO:0003325)
|
Limb-girdle muscle weakness |
|
|
|
|
22 / 7739
|
|
16
|
(HPO:0003701)
|
Proximal muscle weakness |
|
|
|
|
105 / 7739
|
|
17
|
(HPO:0005988)
|
Congenital muscular torticollis |
|
|
|
|
11 / 7739
|
|
18
|
(HPO:0006466)
|
Ankle contracture |
|
|
|
|
17 / 7739
|
|
19
|
(OMIM)
|
No cardiac involvement |
|
|
|
|
2 / 7739
|
|
20
|
(OMIM)
|
Respiratory failure due to muscle weakness may occur in late stages |
|
|
|
|
1 / 7739
|
|
21
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
|
22
|
(OMIM)
|
Long finger flexion contractures of the last four fingers |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Proximal muscle weakness more severe than distal muscle weakness |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Extensor muscle weakness more severe than flexor muscle weakness |
|
|
|
|
1 / 7739
|
|
25
|
(OMIM)
|
Muscle atrophy, mild, more proximal than distal |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Muscle biopsy shows nonspecific myopathic changes |
|
|
|
|
2 / 7739
|
|
27
|
(OMIM)
|
Decreased fetal movements may occur |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
Normal or increased serum creatine kinase |
|
|
|
|
3 / 7739
|
|
29
|
(HPO:0030089)
|
Abnormal muscle fiber protein expression |
Very frequent [Orphanet]
|
|
|
|
64 / 7739
|
|
30
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
31
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
32
|
(HPO:0003677)
|
Slow progression |
|
|
|
|
134 / 7739
|
|
33
|
(HPO:0003828)
|
Variable expressivity |
|
|
|
|
130 / 7739
|