|
1
|
(HPO:0001511)
|
Intrauterine growth retardation |
|
|
|
|
358 / 7739
|
|
2
|
(HPO:0000505)
|
Visual impairment |
|
|
|
|
297 / 7739
|
|
3
|
(HPO:0001638)
|
Cardiomyopathy |
|
|
|
|
192 / 7739
|
|
4
|
(HPO:0001635)
|
Congestive heart failure |
|
|
|
|
232 / 7739
|
|
5
|
(HPO:0011675)
|
Arrhythmia |
|
|
|
|
226 / 7739
|
|
6
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
|
7
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
8
|
(HPO:0011923)
|
Decreased activity of mitochondrial complex I |
|
|
|
|
35 / 7739
|
|
9
|
(HPO:0008347)
|
Decreased activity of mitochondrial complex IV |
|
|
|
|
31 / 7739
|
|
10
|
(HPO:0002361)
|
Psychomotor deterioration |
|
|
|
|
26 / 7739
|
|
11
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
12
|
(HPO:0012692)
|
Focal T2 hyperintense thalamic lesion |
|
|
|
|
1 / 7739
|
|
13
|
(HPO:0012748)
|
Focal T2 hyperintense brainstem lesion |
|
|
|
|
2 / 7739
|
|
14
|
(HPO:0007183)
|
Focal T2 hyperintense basal ganglia lesion |
|
|
|
|
6 / 7739
|
|
15
|
(HPO:0003128)
|
Lactic acidosis |
|
|
|
|
116 / 7739
|
|
16
|
(HPO:0002151)
|
Increased serum lactate |
|
|
|
|
92 / 7739
|