|
1
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
2
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
3
|
(HPO:0003701)
|
Proximal muscle weakness |
|
|
|
|
105 / 7739
|
|
4
|
(OMIM)
|
Ptosis, mild |
|
|
|
|
2 / 7739
|
|
5
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
6
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
7
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
8
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
9
|
(OMIM)
|
Tubular aggregates seen on muscle biopsy |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Decreased AChR at the endplate |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Decreased postsynaptic folding at the neuromuscular junction |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Abnormal jitter seen on EMG |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Decremental response on 3-Hz repetitive nerve stimulation |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Unsteady gait due to muscle weakness |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Hypoglycosylated serum transferrin |
|
|
|
|
1 / 7739
|
|
16
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
17
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
18
|
(HPO:0003677)
|
Slow progression |
|
|
|
|
134 / 7739
|