|
1
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
19576565
|
IBIS
|
990 / 7739
|
|
2
|
(HPO:0001324)
|
Muscle weakness |
|
|
19576565
|
IBIS
|
859 / 7739
|
|
3
|
(HPO:0001644)
|
Dilated cardiomyopathy |
|
|
19576565
|
IBIS
|
141 / 7739
|
|
4
|
(HPO:0002515)
|
Waddling gait |
|
|
19576565
|
IBIS
|
56 / 7739
|
|
5
|
(HPO:0002910)
|
Elevated hepatic transaminases |
|
|
19576565
|
IBIS
|
158 / 7739
|
|
6
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
19576565
|
IBIS
|
214 / 7739
|
|
7
|
(HPO:0003557)
|
Increased variability in muscle fiber diameter |
|
|
19576565
|
IBIS
|
24 / 7739
|
|
8
|
(HPO:0003642)
|
Type I transferrin isoform profile |
|
|
19576565
|
IBIS
|
16 / 7739
|
|
9
|
(HPO:0003805)
|
Rimmed vacuoles |
|
|
19576565
|
IBIS
|
22 / 7739
|
|
10
|
(HPO:0003560)
|
Muscular dystrophy |
|
|
19576565
|
IBIS
|
88 / 7739
|
|
11
|
(HPO:0012084)
|
Abnormality of skeletal muscle fiber size |
|
|
19576565
|
IBIS
|
1 / 7739
|
|
12
|
(HPO:0003713)
|
Muscle fiber necrosis |
|
|
19576565
|
IBIS
|
8 / 7739
|
|
13
|
(HPO:0001315)
|
Reduced tendon reflexes |
|
|
19576565
|
IBIS
|
160 / 7739
|
|
14
|
(HPO:0003487)
|
Babinski sign |
|
|
19576565
|
IBIS
|
179 / 7739
|
|
15
|
(HPO:0030046)
|
Hypoglycosylation of alpha-dystroglycan |
|
|
19576565
|
IBIS
|
3 / 7739
|
|
16
|
(HPO:0003160)
|
Abnormal isoelectric focusing of serum transferrin |
|
|
19576565
|
IBIS
|
10 / 7739
|