|
1
|
(HPO:0000573)
|
Retinal hemorrhage |
|
|
|
|
13 / 7739
|
|
2
|
(HPO:0000883)
|
Thin ribs |
|
|
|
|
31 / 7739
|
|
3
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
4
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
|
5
|
(HPO:0001518)
|
Small for gestational age |
|
|
|
|
107 / 7739
|
|
6
|
(HPO:0001558)
|
Decreased fetal movement |
|
|
|
|
74 / 7739
|
|
7
|
(HPO:0001561)
|
Polyhydramnios |
|
|
|
|
191 / 7739
|
|
8
|
(HPO:0002093)
|
Respiratory insufficiency |
|
|
|
|
410 / 7739
|
|
9
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
|
10
|
(HPO:0003687)
|
Centrally nucleated skeletal muscle fibers |
|
|
|
|
15 / 7739
|
|
11
|
(OMIM)
|
Thin bones |
|
|
|
|
1 / 7739
|
|
12
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
13
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
14
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
15
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
16
|
(OMIM)
|
Muscle biopsy shows atrophic fibers |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Small rounded fibers |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
EMG may show myopathic features |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Lack of spontaneous movement |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Intracranial bleeding |
|
|
|
|
4 / 7739
|
|
21
|
(HPO:0000762)
|
Decreased nerve conduction velocity |
|
|
|
|
36 / 7739
|
|
22
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
23
|
(HPO:0001522)
|
Death in infancy |
|
|
|
|
275 / 7739
|
|
24
|
(HPO:0003577)
|
Congenital onset |
|
|
|
|
133 / 7739
|