1
|
(HPO:0001639)
|
Hypertrophic cardiomyopathy |
Very frequent [IBIS]
|
100% (n=4)
|
21786366
|
IBIS
|
137 / 7739
|
2
|
(HPO:0002151)
|
Increased serum lactate |
Very frequent [IBIS]
|
100% (n=4)
|
21786366
|
IBIS
|
92 / 7739
|
3
|
(HPO:0008972)
|
Decreased activity of mitochondrial respiratory chain |
Very frequent [IBIS]
|
100% (n=4)
|
21786366
|
IBIS
|
34 / 7739
|
4
|
(HPO:0001508)
|
Failure to thrive |
Frequent [IBIS]
|
75% (n=4)
|
21786366
|
IBIS
|
454 / 7739
|
5
|
(HPO:0002240)
|
Hepatomegaly |
Frequent [IBIS]
|
75% (n=4)
|
21786366
|
IBIS
|
467 / 7739
|
6
|
(HPO:0002910)
|
Elevated hepatic transaminases |
Frequent [IBIS]
|
75% (n=4)
|
21786366
|
IBIS
|
158 / 7739
|
7
|
(HPO:0011968)
|
Feeding difficulties |
Frequent [IBIS]
|
75% (n=4)
|
21786366
|
IBIS
|
240 / 7739
|
8
|
(HPO:0001522)
|
Death in infancy |
Frequent [IBIS]
|
50% (n=4)
|
21786366
|
IBIS
|
275 / 7739
|
9
|
(HPO:0005943)
|
Respiratory arrest |
Occasional [IBIS]
|
25% (n=4)
|
21786366
|
IBIS
|
5 / 7739
|
10
|
(HPO:0001695)
|
Cardiac arrest |
Occasional [IBIS]
|
25% (n=4)
|
21786366
|
IBIS
|
87 / 7739
|
11
|
(HPO:0001635)
|
Congestive heart failure |
Occasional [IBIS]
|
25% (n=4)
|
21786366
|
IBIS
|
232 / 7739
|
12
|
(HPO:0001263)
|
Global developmental delay |
|
|
21786366
|
IBIS
|
853 / 7739
|
13
|
(HPO:0002094)
|
Dyspnea |
|
|
21786366
|
IBIS
|
132 / 7739
|
14
|
(HPO:0003348)
|
Hyperalaninemia |
|
|
21786366
|
IBIS
|
19 / 7739
|
15
|
(OMIM)
|
Cortical hypergyria (in some patients) |
|
|
21786366
|
IBIS
|
1 / 7739
|
16
|
(OMIM)
|
Impaired mitochondrial translation |
|
|
21786366
|
IBIS
|
4 / 7739
|
17
|
(HPO:0011923)
|
Decreased activity of mitochondrial complex I |
|
|
21786366
|
IBIS
|
35 / 7739
|
18
|
(HPO:0008347)
|
Decreased activity of mitochondrial complex IV |
|
|
21786366
|
IBIS
|
31 / 7739
|
19
|
(HPO:0011925)
|
Decreased activity of mitochondrial ATP synthase complex |
|
|
21786366
|
IBIS
|
10 / 7739
|
20
|
(HPO:0002033)
|
Poor suck |
|
|
21786366
|
IBIS
|
37 / 7739
|
21
|
(HPO:0001410)
|
Decreased liver function |
|
|
21786366
|
IBIS
|
59 / 7739
|
22
|
(HPO:0001510)
|
Growth delay |
|
|
21786366
|
IBIS
|
295 / 7739
|