|
1
|
(HPO:0001685)
|
Myocardial fibrosis |
Frequent [IBIS]
|
64% (n=11)
|
11166616
|
IBIS
|
30 / 7739
|
|
2
|
(HPO:0001629)
|
Ventricular septal defect |
Frequent [IBIS]
|
43% (n=14)
|
11166616
|
IBIS
|
316 / 7739
|
|
3
|
(HPO:0001699)
|
Sudden death |
Frequent [IBIS]
|
33% (n=15)
|
2317404
|
IBIS
|
34 / 7739
|
|
4
|
(HPO:0011718)
|
Abnormality of the pulmonary veins |
Occasional [IBIS]
|
21% (n=14)
|
11166616
|
IBIS
|
6 / 7739
|
|
5
|
(HPO:0005120)
|
Abnormality of cardiac atrium |
Occasional [IBIS]
|
21% (n=14)
|
11166616
|
IBIS
|
5 / 7739
|
|
6
|
(HPO:0001711)
|
Abnormality of the left ventricle |
Occasional [IBIS]
|
21% (n=14)
|
11166616
|
IBIS
|
22 / 7739
|
|
7
|
(HPO:0001324)
|
Muscle weakness |
Occasional [IBIS]
|
20% (n=15)
|
11166616
|
IBIS
|
859 / 7739
|
|
8
|
(HPO:0012102)
|
Abnormal mitochondrial number |
Occasional [IBIS]
|
18% (n=11)
|
11166616
|
IBIS
|
4 / 7739
|
|
9
|
(HPO:0003715)
|
Myofibrillar myopathy |
Occasional [IBIS]
|
18% (n=11)
|
11166616
|
IBIS
|
9 / 7739
|
|
10
|
(HPO:0100598)
|
Pulmonary edema |
Occasional [IBIS]
|
14% (n=14)
|
11166616
|
IBIS
|
17 / 7739
|
|
11
|
(HPO:0003756)
|
Skeletal myopathy |
Occasional [IBIS]
|
13% (n=15)
|
11166616
|
IBIS
|
8 / 7739
|
|
12
|
(HPO:0001880)
|
Eosinophilia |
Occasional [IBIS]
|
9% (n=11)
|
11166616
|
IBIS
|
35 / 7739
|
|
13
|
(HPO:0006683)
|
Abnormal ventricular filling |
Rare [IBIS]
|
21% (n=14)
|
11166616
|
IBIS
|
5 / 7739
|
|
14
|
(HPO:0001706)
|
Endocardial fibroelastosis |
Rare [IBIS]
|
9% (n=11)
|
11166616
|
IBIS
|
20 / 7739
|
|
15
|
(HPO:0001678)
|
Atrioventricular block |
Rare [IBIS]
|
7% (n=15)
|
11166616
|
IBIS
|
59 / 7739
|
|
16
|
(HPO:0001637)
|
Abnormality of the myocardium |
Rare [IBIS]
|
7% (n=14)
|
11166616
|
IBIS
|
76 / 7739
|
|
17
|
(HPO:0012103)
|
Abnormality of the mitochondrion |
Rare [IBIS]
|
7% (n=14)
|
11166616
|
IBIS
|
7 / 7739
|
|
18
|
(HPO:0001723)
|
Restrictive cardiomyopathy |
|
|
11166616
|
IBIS
|
22 / 7739
|
|
19
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
|
|
11166616
|
IBIS
|
328 / 7739
|
|
20
|
(OMIM)
|
Diastolic dysfunction and atrial enlargement without ventricular dilatation by echocardiography |
|
|
2977941
|
IBIS
|
2 / 7739
|
|
21
|
(HPO:0001640)
|
Cardiomegaly |
|
|
11166616
|
IBIS
|
81 / 7739
|
|
22
|
(HPO:0011025)
|
Abnormality of cardiovascular system physiology |
|
|
11166616
|
IBIS
|
41 / 7739
|
|
23
|
(HPO:0001279)
|
Syncope |
|
|
11166616
|
IBIS
|
94 / 7739
|
|
24
|
(HPO:0002094)
|
Dyspnea |
|
|
11166616
|
IBIS
|
132 / 7739
|
|
25
|
(HPO:0002090)
|
Pneumonia |
|
|
11166616
|
IBIS
|
59 / 7739
|
|
26
|
(MedDRA:10037368)
|
Pulmonary congestion |
|
|
11166616
|
IBIS
|
1 / 7739
|
|
27
|
(MedDRA:10007586)
|
Cardiac murmur |
|
|
11166616
|
IBIS
|
2 / 7739
|
|
28
|
(OMIM)
|
Hypertrophic cardiomyocytes |
|
|
11166616
|
IBIS
|
4 / 7739
|
|
29
|
(OMIM)
|
Atrial dilation (bilateral in some patients |
|
|
11166616
|
IBIS
|
3 / 7739
|
|
30
|
(MedDRA:10029748)
|
Noonan syndrome |
|
|
8043339
|
IBIS
|
1 / 7739
|
|
31
|
(OMIM)
|
Dilated left atrium |
|
|
11166616
|
IBIS
|
2 / 7739
|