1
|
(HPO:0000467)
|
Neck muscle weakness |
|
|
|
|
29 / 7739
|
2
|
(HPO:0001319)
|
Neonatal hypotonia |
|
|
|
|
101 / 7739
|
3
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
4
|
(HPO:0001388)
|
Joint laxity |
|
|
|
|
117 / 7739
|
5
|
(HPO:0001558)
|
Decreased fetal movement |
|
|
|
|
74 / 7739
|
6
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
7
|
(HPO:0002747)
|
Respiratory insufficiency due to muscle weakness |
|
|
|
|
48 / 7739
|
8
|
(HPO:0003198)
|
Myopathy |
|
|
|
|
151 / 7739
|
9
|
(HPO:0003547)
|
Shoulder girdle muscle weakness |
|
|
|
|
21 / 7739
|
10
|
(HPO:0003557)
|
Increased variability in muscle fiber diameter |
|
|
|
|
24 / 7739
|
11
|
(HPO:0003701)
|
Proximal muscle weakness |
|
|
|
|
105 / 7739
|
12
|
(HPO:0003741)
|
Congenital muscular dystrophy |
|
|
|
|
22 / 7739
|
13
|
(HPO:0008180)
|
Mildly elevated creatine phosphokinase |
|
|
|
|
28 / 7739
|
14
|
(HPO:0010628)
|
Facial palsy |
|
|
|
|
146 / 7739
|
15
|
(OMIM)
|
Facial muscle weakness, mild to moderate |
|
|
|
|
1 / 7739
|
16
|
(OMIM)
|
Neck muscle weakness, mild to moderate |
|
|
|
|
1 / 7739
|
17
|
(OMIM)
|
Increased joint laxity, mild |
|
|
|
|
1 / 7739
|
18
|
(OMIM)
|
Contractures may develop later in life |
|
|
|
|
1 / 7739
|
19
|
(OMIM)
|
Poor muscle build |
|
|
|
|
1 / 7739
|
20
|
(OMIM)
|
Muscle weakness of the trunk |
|
|
|
|
1 / 7739
|
21
|
(OMIM)
|
Muscle weakness, proximal limb muscle, mild to moderate |
|
|
|
|
1 / 7739
|
22
|
(OMIM)
|
Muscle weakness of the face and neck, mild to moderate |
|
|
|
|
1 / 7739
|
23
|
(OMIM)
|
Delayed walking |
|
|
|
|
13 / 7739
|
24
|
(HPO:0003560)
|
Muscular dystrophy |
|
|
|
|
88 / 7739
|
25
|
(OMIM)
|
Muscle biopsy showed myopathic changes |
|
|
|
|
5 / 7739
|
26
|
(OMIM)
|
Muscle biopsy is immunopositive for merosin (156225) |
|
|
|
|
1 / 7739
|
27
|
(OMIM)
|
Normal or mildly increased serum creatine kinase |
|
|
|
|
6 / 7739
|
28
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
29
|
(HPO:0003577)
|
Congenital onset |
|
|
|
|
133 / 7739
|
30
|
(HPO:0003828)
|
Variable expressivity |
|
|
|
|
130 / 7739
|