|
1
|
(HPO:0001639)
|
Hypertrophic cardiomyopathy |
Very frequent [IBIS]
|
|
23315540
|
IBIS
|
137 / 7739
|
|
2
|
(HPO:0008972)
|
Decreased activity of mitochondrial respiratory chain |
Very frequent [IBIS]
|
|
23315540
|
IBIS
|
34 / 7739
|
|
3
|
(HPO:0001414)
|
Microvesicular hepatic steatosis |
|
|
23315540
|
IBIS
|
9 / 7739
|
|
4
|
(HPO:0002151)
|
Increased serum lactate |
|
|
23315540
|
IBIS
|
92 / 7739
|
|
5
|
(HPO:0002910)
|
Elevated hepatic transaminases |
|
|
23315540
|
IBIS
|
158 / 7739
|
|
6
|
(OMIM)
|
Granular retinal pigmentation, mild (in 1 patient) |
|
|
25797485
|
IBIS
|
1 / 7739
|
|
7
|
(OMIM)
|
Microvesicular steatosis in cardiomyocytes |
|
|
23315540
|
IBIS
|
1 / 7739
|
|
8
|
(OMIM)
|
Decreased levels and activity of mitochondrial respiratory complexes I and IV |
|
|
23315540
|
IBIS
|
1 / 7739
|
|
9
|
(HPO:0001397)
|
Hepatic steatosis |
|
|
23315540
|
IBIS
|
75 / 7739
|
|
10
|
(HPO:0001635)
|
Congestive heart failure |
|
|
23315540
|
IBIS
|
232 / 7739
|
|
11
|
(HPO:0011947)
|
Respiratory tract infection |
|
|
23315540
|
IBIS
|
28 / 7739
|
|
12
|
(HPO:0011923)
|
Decreased activity of mitochondrial complex I |
|
|
23315540
|
IBIS
|
35 / 7739
|
|
13
|
(HPO:0008347)
|
Decreased activity of mitochondrial complex IV |
|
|
23315540
|
IBIS
|
31 / 7739
|