|
1
|
(HPO:0000767)
|
Pectus excavatum |
Frequent [Orphanet]
|
|
|
|
244 / 7739
|
|
2
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
3
|
(HPO:0001315)
|
Reduced tendon reflexes |
Very frequent [Orphanet]
|
|
|
|
160 / 7739
|
|
4
|
(HPO:0002205)
|
Recurrent respiratory infections |
Frequent [Orphanet]
|
|
|
|
254 / 7739
|
|
5
|
(HPO:0002650)
|
Scoliosis |
Frequent [Orphanet]
25% [HPO:probinson]
|
|
|
|
705 / 7739
|
|
6
|
(HPO:0003198)
|
Myopathy |
Very frequent [Orphanet]
|
|
|
|
151 / 7739
|
|
7
|
(HPO:0030089)
|
Abnormal muscle fiber protein expression |
Very frequent [Orphanet]
|
|
|
|
64 / 7739
|
|
8
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
9
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
10
|
(HPO:0000275)
|
Narrow face |
|
|
|
|
76 / 7739
|
|
11
|
(HPO:0000276)
|
Long face |
|
|
|
|
109 / 7739
|
|
12
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
|
13
|
(HPO:0000602)
|
Ophthalmoplegia |
20% [HPO:probinson]
|
|
|
|
56 / 7739
|
|
14
|
(HPO:0001283)
|
Bulbar palsy |
|
|
|
|
31 / 7739
|
|
15
|
(HPO:0001319)
|
Neonatal hypotonia |
|
|
|
|
101 / 7739
|
|
16
|
(HPO:0001374)
|
Congenital hip dislocation |
13% [HPO:probinson]
|
|
|
|
51 / 7739
|
|
17
|
(HPO:0001425)
|
Heterogeneous |
|
|
|
|
132 / 7739
|
|
18
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
19
|
(HPO:0001558)
|
Decreased fetal movement |
|
|
|
|
74 / 7739
|
|
20
|
(HPO:0001612)
|
Weak cry |
|
|
|
|
17 / 7739
|
|
21
|
(HPO:0001644)
|
Dilated cardiomyopathy |
|
|
|
|
141 / 7739
|
|
22
|
(HPO:0002015)
|
Dysphagia |
|
|
|
|
301 / 7739
|
|
23
|
(HPO:0002093)
|
Respiratory insufficiency |
|
|
|
|
410 / 7739
|
|
24
|
(HPO:0002747)
|
Respiratory insufficiency due to muscle weakness |
|
|
|
|
48 / 7739
|
|
25
|
(HPO:0002938)
|
Lumbar hyperlordosis |
|
|
|
|
73 / 7739
|
|
26
|
(HPO:0003121)
|
Limb joint contracture |
25% [HPO:probinson]
|
|
|
|
8 / 7739
|
|
27
|
(HPO:0003324)
|
Generalized muscle weakness |
|
|
|
|
48 / 7739
|
|
28
|
(HPO:0003577)
|
Congenital onset |
|
|
|
|
133 / 7739
|
|
29
|
(HPO:0003687)
|
Centrally nucleated skeletal muscle fibers |
|
|
|
|
15 / 7739
|
|
30
|
(HPO:0003701)
|
Proximal muscle weakness |
|
|
|
|
105 / 7739
|
|
31
|
(HPO:0003755)
|
Type 1 fibers relatively smaller than type 2 fibers |
|
|
|
|
2 / 7739
|
|
32
|
(HPO:0003828)
|
Variable expressivity |
|
|
|
|
130 / 7739
|
|
33
|
(HPO:0010628)
|
Facial palsy |
|
|
|
|
146 / 7739
|
|
34
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|