|
1
|
(HPO:0001639)
|
Hypertrophic cardiomyopathy |
Very frequent [IBIS]
|
|
21549344
|
IBIS
|
137 / 7739
|
|
2
|
(HPO:0008972)
|
Decreased activity of mitochondrial respiratory chain |
Very frequent [IBIS]
|
|
21549344
|
IBIS
|
34 / 7739
|
|
3
|
(HPO:0001508)
|
Failure to thrive |
|
|
21549344
|
IBIS
|
454 / 7739
|
|
4
|
(HPO:0002089)
|
Pulmonary hypoplasia |
|
|
21549344
|
IBIS
|
80 / 7739
|
|
5
|
(HPO:0003128)
|
Lactic acidosis |
|
|
21549344
|
IBIS
|
116 / 7739
|
|
6
|
(HPO:0003324)
|
Generalized muscle weakness |
|
|
21549344
|
IBIS
|
48 / 7739
|
|
7
|
(OMIM)
|
Pulmonary hypoplasia, mild |
|
|
21549344
|
IBIS
|
1 / 7739
|
|
8
|
(OMIM)
|
Periodic stiffness |
|
|
21549344
|
IBIS
|
1 / 7739
|
|
9
|
(HPO:0002353)
|
EEG abnormality |
|
|
21549344
|
IBIS
|
188 / 7739
|
|
10
|
(OMIM)
|
Decreased mitochondrial respiratory complexes I, III, and IV in brain, heart, and skeletal muscle |
|
|
21549344
|
IBIS
|
1 / 7739
|
|
11
|
(OMIM)
|
Infantile cardiomyopathy |
|
|
21549344
|
IBIS
|
3 / 7739
|
|
12
|
(OMIM)
|
Cardiomyopathy, mitochondrial |
|
|
21549344
|
IBIS
|
2 / 7739
|
|
13
|
(HPO:0001635)
|
Congestive heart failure |
|
|
21549344
|
IBIS
|
232 / 7739
|
|
14
|
(HPO:0001640)
|
Cardiomegaly |
|
|
21549344
|
IBIS
|
81 / 7739
|
|
15
|
(HPO:0011923)
|
Decreased activity of mitochondrial complex I |
|
|
21549344
|
IBIS
|
35 / 7739
|
|
16
|
(HPO:0008347)
|
Decreased activity of mitochondrial complex IV |
|
|
21549344
|
IBIS
|
31 / 7739
|
|
17
|
(HPO:0011924)
|
Decreased activity of mitochondrial complex III |
|
|
21549344
|
IBIS
|
22 / 7739
|
|
18
|
(HPO:0001270)
|
Motor delay |
|
|
21549344
|
IBIS
|
322 / 7739
|
|
19
|
(HPO:0011968)
|
Feeding difficulties |
|
|
21549344
|
IBIS
|
240 / 7739
|
|
20
|
(HPO:0008872)
|
Feeding difficulties in infancy |
|
|
21549344
|
IBIS
|
153 / 7739
|
|
21
|
(HPO:0001942)
|
Metabolic acidosis |
|
|
21549344
|
IBIS
|
81 / 7739
|
|
22
|
(OMIM)
|
Staring gaze |
|
|
21549344
|
IBIS
|
2 / 7739
|
|
23
|
(HPO:0001644)
|
Dilated cardiomyopathy |
|
|
21549344
|
IBIS
|
141 / 7739
|
|
24
|
(HPO:0001522)
|
Death in infancy |
|
|
21549344
|
IBIS
|
275 / 7739
|
|
25
|
(HPO:0001315)
|
Reduced tendon reflexes |
|
|
21549344
|
IBIS
|
160 / 7739
|
|
26
|
(HPO:0003219)
|
Ethylmalonic aciduria |
|
|
21549344
|
IBIS
|
5 / 7739
|
|
27
|
(HPO:0001712)
|
Left ventricular hypertrophy |
|
|
21549344
|
IBIS
|
76 / 7739
|
|
28
|
(OMIM)
|
Decreased contractility |
|
|
21549344
|
IBIS
|
2 / 7739
|
|
29
|
(HPO:0006670)
|
Impaired myocardial contractility |
|
|
21549344
|
IBIS
|
9 / 7739
|
|
30
|
(HPO:0003800)
|
Muscle abnormality related to mitochondrial dysfunction |
|
|
21549344
|
IBIS
|
3 / 7739
|
|
31
|
(HPO:0003676)
|
Progressive disorder |
|
|
21549344
|
IBIS
|
148 / 7739
|
|
32
|
(HPO:0006693)
|
Myocardial steatosis |
|
|
21549344
|
IBIS
|
2 / 7739
|
|
33
|
(OMIM)
|
COX deficiency |
|
|
21549344
|
IBIS
|
2 / 7739
|
|
34
|
(HPO:0003688)
|
Decreased activity of cytochrome C oxidase in muscle tissue |
|
|
21549344
|
IBIS
|
20 / 7739
|
|
35
|
(HPO:0001397)
|
Hepatic steatosis |
|
|
21549344
|
IBIS
|
75 / 7739
|
|
36
|
(OMIM)
|
Fiber size variation |
|
|
21549344
|
IBIS
|
3 / 7739
|
|
37
|
(HPO:0011807)
|
Type 1 muscle fiber atrophy |
|
|
21549344
|
IBIS
|
2 / 7739
|
|
38
|
(HPO:0009058)
|
Increased muscle lipid content |
|
|
21549344
|
IBIS
|
6 / 7739
|
|
39
|
(OMIM)
|
Vacuolization |
|
|
21549344
|
IBIS
|
2 / 7739
|
|
40
|
(MedDRA:10033318)
|
Oxygen saturation decreased |
|
|
21549344
|
IBIS
|
4 / 7739
|
|
41
|
(HPO:0003811)
|
Neonatal death |
|
|
21549344
|
IBIS
|
44 / 7739
|
|
42
|
(HPO:0003826)
|
Stillbirth |
|
|
21549344
|
IBIS
|
40 / 7739
|