|
1
|
(HPO:0005144)
|
Left ventricular septal hypertrophy |
Frequent [IBIS]
|
50% (n=12)
|
6211078
|
IBIS
|
5 / 7739
|
|
2
|
(HPO:0001712)
|
Left ventricular hypertrophy |
Frequent [IBIS]
|
46% (n=13)
|
8673105
|
IBIS
|
76 / 7739
|
|
3
|
(HPO:0003756)
|
Skeletal myopathy |
Occasional [IBIS]
|
23% (n=13)
|
8673105
|
IBIS
|
8 / 7739
|
|
4
|
(HPO:0003200)
|
Ragged-red muscle fibers |
Occasional [IBIS]
|
23% (n=13)
|
8673105
|
IBIS
|
37 / 7739
|
|
5
|
(HPO:0003800)
|
Muscle abnormality related to mitochondrial dysfunction |
Occasional [IBIS]
|
23% (n=13)
|
8673105
|
IBIS
|
3 / 7739
|
|
6
|
(HPO:0001639)
|
Hypertrophic cardiomyopathy |
|
|
8673105
|
IBIS
|
137 / 7739
|
|
7
|
(HPO:0001723)
|
Restrictive cardiomyopathy |
|
|
12021217
|
IBIS
|
22 / 7739
|
|
8
|
(HPO:0011103)
|
Abnormality of the left ventricular outflow tract |
|
|
8673105
|
IBIS
|
12 / 7739
|
|
9
|
(HPO:0002092)
|
Pulmonary hypertension |
|
|
12021217
|
IBIS
|
109 / 7739
|
|
10
|
(OMIM)
|
Atrial enlargement |
|
|
12021217
|
IBIS
|
2 / 7739
|
|
11
|
(HPO:0011535)
|
Abnormal atrial arrangement |
|
|
12021217
|
IBIS
|
2 / 7739
|
|
12
|
(HPO:0001635)
|
Congestive heart failure |
|
|
16267253
|
IBIS
|
232 / 7739
|
|
13
|
(HPO:0001645)
|
Sudden cardiac death |
|
|
16267253
|
IBIS
|
84 / 7739
|