1
|
(HPO:0001771)
|
Achilles tendon contracture |
|
|
22431096
|
IBIS
|
27 / 7739
|
2
|
(HPO:0002987)
|
Elbow flexion contracture |
|
|
23313286
|
IBIS
|
64 / 7739
|
3
|
(HPO:0005997)
|
Restricted neck movement due to contractures |
|
|
22431096
|
IBIS
|
4 / 7739
|
4
|
(HPO:0011675)
|
Arrhythmia |
|
|
22431096
|
IBIS
|
226 / 7739
|
5
|
(HPO:0000508)
|
Ptosis |
|
|
23313286
|
IBIS
|
459 / 7739
|
6
|
(HPO:0007340)
|
Lower limb muscle weakness |
|
|
23313286
|
IBIS
|
61 / 7739
|
7
|
(HPO:0009125)
|
Lipodystrophy |
|
|
23313286
|
IBIS
|
54 / 7739
|
8
|
(HPO:0002938)
|
Lumbar hyperlordosis |
|
|
23313286
|
IBIS
|
73 / 7739
|
9
|
(HPO:0000347)
|
Micrognathia |
|
|
23313286
|
IBIS
|
426 / 7739
|
10
|
(HPO:0005328)
|
Progeroid facial appearance |
|
|
23313286
|
IBIS
|
13 / 7739
|
11
|
(HPO:0003325)
|
Limb-girdle muscle weakness |
|
|
23313286
|
IBIS
|
22 / 7739
|
12
|
(HPO:0006466)
|
Ankle contracture |
|
|
23313286
|
IBIS
|
17 / 7739
|
13
|
(HPO:0002650)
|
Scoliosis |
|
|
23313286
|
IBIS
|
705 / 7739
|
14
|
(HPO:0003547)
|
Shoulder girdle muscle weakness |
|
|
23313286
|
IBIS
|
21 / 7739
|
15
|
(HPO:0003749)
|
Pelvic girdle muscle weakness |
|
|
23313286
|
IBIS
|
15 / 7739
|
16
|
(HPO:0005110)
|
Atrial fibrillation |
|
|
23313286
|
IBIS
|
71 / 7739
|
17
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
23313286
|
IBIS
|
214 / 7739
|
18
|
(HPO:0002155)
|
Hypertriglyceridemia |
|
|
23313286
|
IBIS
|
67 / 7739
|
19
|
(HPO:0003233)
|
Hypoalphalipoproteinemia |
|
|
23313286
|
IBIS
|
18 / 7739
|
20
|
(HPO:0001999)
|
Abnormal facial shape |
|
|
18348272
|
IBIS
|
169 / 7739
|
21
|
(HPO:0003560)
|
Muscular dystrophy |
|
|
22431096
|
IBIS
|
88 / 7739
|
22
|
(HPO:0003797)
|
Limb-girdle muscle atrophy |
|
|
22431096
|
IBIS
|
8 / 7739
|
23
|
(HPO:0003724)
|
Shoulder girdle muscle atrophy |
|
|
22431096
|
IBIS
|
14 / 7739
|
24
|
(HPO:0003701)
|
Proximal muscle weakness |
|
|
22431096
|
IBIS
|
105 / 7739
|
25
|
(HPO:0005115)
|
Supraventricular arrhythmia |
|
|
22431096
|
IBIS
|
13 / 7739
|
26
|
(HPO:0001962)
|
Palpitations |
|
|
22431096
|
IBIS
|
62 / 7739
|
27
|
(HPO:0001288)
|
Gait disturbance |
|
|
22431096
|
IBIS
|
318 / 7739
|
28
|
(HPO:0001315)
|
Reduced tendon reflexes |
|
|
23313286
|
IBIS
|
160 / 7739
|
29
|
(HPO:0008988)
|
Pelvic girdle muscle atrophy |
|
|
22431096
|
IBIS
|
5 / 7739
|