|
1
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
2
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
|
3
|
(HPO:0001561)
|
Polyhydramnios |
|
|
|
|
191 / 7739
|
|
4
|
(HPO:0001612)
|
Weak cry |
|
|
|
|
17 / 7739
|
|
5
|
(HPO:0001644)
|
Dilated cardiomyopathy |
|
|
|
|
141 / 7739
|
|
6
|
(HPO:0002033)
|
Poor suck |
|
|
|
|
37 / 7739
|
|
7
|
(HPO:0002098)
|
Respiratory distress |
|
|
|
|
75 / 7739
|
|
8
|
(HPO:0002747)
|
Respiratory insufficiency due to muscle weakness |
|
|
|
|
48 / 7739
|
|
9
|
(HPO:0003198)
|
Myopathy |
|
|
|
|
151 / 7739
|
|
10
|
(HPO:0003755)
|
Type 1 fibers relatively smaller than type 2 fibers |
|
|
|
|
2 / 7739
|
|
11
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
12
|
(HPO:0004325)
|
Decreased body weight |
|
|
|
|
492 / 7739
|
|
13
|
(HPO:0004661)
|
Frontalis muscle weakness |
|
|
|
|
2 / 7739
|
|
14
|
(HPO:0008935)
|
Generalized neonatal hypotonia |
|
|
|
|
9 / 7739
|
|
15
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
|
16
|
(HPO:0010628)
|
Facial palsy |
|
|
|
|
146 / 7739
|
|
17
|
(OMIM)
|
Horizontal smile |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Respiratory distress due to muscle weakness, often fatal |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Respiratory muscle weakness, severe |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Lung hypoplasia at birth |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Relatively preserved limb strength |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Muscle biopsy shows fiber type disproportion |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Type 1 fibers are at least 12% smaller than type 2 fibers |
|
|
|
|
2 / 7739
|
|
24
|
(OMIM)
|
Muscle biopsy shows no dystrophic changes |
|
|
|
|
1 / 7739
|
|
25
|
(HPO:0001423)
|
X-linked dominant inheritance |
|
|
|
|
69 / 7739
|