|
1
|
(HPO:0009069)
|
Lethal infantile mitochondrial myopathy |
Very frequent [IBIS]
|
|
1379415
|
IBIS
|
2 / 7739
|
|
2
|
(HPO:0003128)
|
Lactic acidosis |
|
|
1645537
|
IBIS
|
116 / 7739
|
|
3
|
(HPO:0003198)
|
Myopathy |
|
|
1379415
|
IBIS
|
151 / 7739
|
|
4
|
(HPO:0001638)
|
Cardiomyopathy |
|
|
2549452
|
IBIS
|
192 / 7739
|
|
5
|
(HPO:0001622)
|
Premature birth |
|
|
1645537
|
IBIS
|
100 / 7739
|
|
6
|
(HPO:0003811)
|
Neonatal death |
|
|
1645537
|
IBIS
|
44 / 7739
|
|
7
|
(HPO:0008347)
|
Decreased activity of mitochondrial complex IV |
|
|
1645537
|
IBIS
|
31 / 7739
|
|
8
|
(HPO:0011924)
|
Decreased activity of mitochondrial complex III |
|
|
1645537
|
IBIS
|
22 / 7739
|
|
9
|
(HPO:0006558)
|
Decreased mitochondrial complex III activity in liver tissue |
|
|
1645537
|
IBIS
|
3 / 7739
|
|
10
|
(HPO:0008972)
|
Decreased activity of mitochondrial respiratory chain |
|
|
1645537
|
IBIS
|
34 / 7739
|
|
11
|
(HPO:0001522)
|
Death in infancy |
|
|
1379415
|
IBIS
|
275 / 7739
|
|
12
|
(HPO:0011923)
|
Decreased activity of mitochondrial complex I |
|
|
2549452
|
IBIS
|
35 / 7739
|
|
13
|
(HPO:0003800)
|
Muscle abnormality related to mitochondrial dysfunction |
|
|
1379415
|
IBIS
|
3 / 7739
|