|
1
|
(HPO:0000508)
|
Ptosis |
|
|
17444505
|
IBIS
|
459 / 7739
|
|
2
|
(HPO:0001270)
|
Motor delay |
|
|
17444505
|
IBIS
|
322 / 7739
|
|
3
|
(HPO:0001644)
|
Dilated cardiomyopathy |
|
|
17444505
|
IBIS
|
141 / 7739
|
|
4
|
(HPO:0003198)
|
Myopathy |
|
|
17444505
|
IBIS
|
151 / 7739
|
|
5
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
Occasional [HPO:skoehler]
|
|
17444505
|
IBIS
|
214 / 7739
|
|
6
|
(HPO:0003324)
|
Generalized muscle weakness |
|
|
17444505
|
IBIS
|
48 / 7739
|
|
7
|
(HPO:0003687)
|
Centrally nucleated skeletal muscle fibers |
|
|
17444505
|
IBIS
|
15 / 7739
|
|
8
|
(HPO:0008981)
|
Calf muscle hypertrophy |
|
|
17444505
|
IBIS
|
28 / 7739
|
|
9
|
(HPO:0010628)
|
Facial palsy |
|
|
17444505
|
IBIS
|
146 / 7739
|
|
10
|
(HPO:0011675)
|
Arrhythmia |
|
|
17444505
|
IBIS
|
226 / 7739
|
|
11
|
(OMIM)
|
Muscle biopsy shows centralized nuclei |
|
|
17444505
|
IBIS
|
3 / 7739
|
|
12
|
(OMIM)
|
Type 1 fiber predominance |
|
|
1744450
|
IBIS
|
9 / 7739
|
|
13
|
(OMIM)
|
Minicore-like lesions with mitochondrial depletion and sarcomeric disorganization |
|
|
17444505
|
IBIS
|
1 / 7739
|
|
14
|
(OMIM)
|
Disruption of the M-line |
|
|
17444505
|
IBIS
|
1 / 7739
|
|
15
|
(OMIM)
|
Dystrophic changes occur later |
|
|
17444505
|
IBIS
|
1 / 7739
|
|
16
|
(HPO:0001699)
|
Sudden death |
|
|
17444505
|
IBIS
|
34 / 7739
|
|
17
|
(HPO:0003577)
|
Congenital onset |
|
|
|
|
133 / 7739
|
|
18
|
(HPO:0002650)
|
Scoliosis |
|
|
17444505
|
IBIS
|
705 / 7739
|
|
19
|
(HPO:0001635)
|
Congestive heart failure |
|
|
17444505
|
IBIS
|
232 / 7739
|
|
20
|
(HPO:0002058)
|
Myopathic facies |
|
|
22238790
|
IBIS
|
26 / 7739
|
|
21
|
(HPO:0040081)
|
Abnormal levels of creatine kinase in blood |
|
|
22238790
|
IBIS
|
2 / 7739
|
|
22
|
(OMIM)
|
Endomysial fibrosis |
|
|
22238790
|
IBIS
|
4 / 7739
|
|
23
|
(HPO:0100297)
|
Increased endomysial connective tissue |
|
|
22238790
|
IBIS
|
2 / 7739
|
|
24
|
(OMIM)
|
Interstitial fibrosis |
|
|
17444505
|
IBIS
|
24 / 7739
|
|
25
|
(HPO:0009046)
|
Difficulty running |
|
|
22238790
|
IBIS
|
17 / 7739
|
|
26
|
(HPO:0003551)
|
Difficulty climbing stairs |
|
|
22238790
|
IBIS
|
23 / 7739
|
|
27
|
(HPO:0003741)
|
Congenital muscular dystrophy |
|
|
22238790
|
IBIS
|
22 / 7739
|