|
1
|
(HPO:0000093)
|
Proteinuria |
|
|
|
|
169 / 7739
|
|
2
|
(HPO:0000124)
|
Renal tubular dysfunction |
|
|
|
|
46 / 7739
|
|
3
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
|
4
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
|
5
|
(HPO:0000580)
|
Pigmentary retinopathy |
|
|
|
|
49 / 7739
|
|
6
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
|
7
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
8
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
9
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
10
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
11
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
12
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
13
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
14
|
(HPO:0001410)
|
Decreased liver function |
|
|
|
|
59 / 7739
|
|
15
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
16
|
(HPO:0001639)
|
Hypertrophic cardiomyopathy |
|
|
|
|
137 / 7739
|
|
17
|
(HPO:0001903)
|
Anemia |
|
|
|
|
289 / 7739
|
|
18
|
(HPO:0001994)
|
Renal Fanconi syndrome |
|
|
|
|
12 / 7739
|
|
19
|
(HPO:0002151)
|
Increased serum lactate |
|
|
|
|
92 / 7739
|
|
20
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
|
21
|
(HPO:0002490)
|
Increased CSF lactate |
|
|
|
|
28 / 7739
|
|
22
|
(HPO:0002747)
|
Respiratory insufficiency due to muscle weakness |
|
|
|
|
48 / 7739
|
|
23
|
(HPO:0002875)
|
Exertional dyspnea |
|
|
|
|
29 / 7739
|
|
24
|
(HPO:0002880)
|
Respiratory difficulties |
|
|
|
|
15 / 7739
|
|
25
|
(HPO:0003076)
|
Glycosuria |
|
|
|
|
32 / 7739
|
|
26
|
(HPO:0003109)
|
Hyperphosphaturia |
|
|
|
|
18 / 7739
|
|
27
|
(HPO:0003128)
|
Lactic acidosis |
|
|
|
|
116 / 7739
|
|
28
|
(HPO:0003355)
|
Aminoaciduria |
|
|
|
|
65 / 7739
|
|
29
|
(HPO:0003546)
|
Exercise intolerance |
|
|
|
|
62 / 7739
|
|
30
|
(HPO:0003688)
|
Decreased activity of cytochrome C oxidase in muscle tissue |
|
|
|
|
20 / 7739
|
|
31
|
(HPO:0006565)
|
Increased hepatocellular lipid droplets |
|
|
|
|
2 / 7739
|
|
32
|
(HPO:0012240)
|
Increased intramyocellular lipid droplets |
|
|
|
|
7 / 7739
|
|
33
|
(OMIM)
|
Liver biopsy shows increased lipid droplets and abnormal mitochondria |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Biopsy shows decreased cytochrome c oxidase |
|
|
|
|
1 / 7739
|
|
35
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
36
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
37
|
(OMIM)
|
Muscle biopsy shows decrease or absence of cytochrome c oxidase |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
Increased lipid droplets and abnormal mitochondria |
|
|
|
|
1 / 7739
|
|
39
|
(HPO:0007256)
|
Abnormal pyramidal signs |
|
|
|
|
116 / 7739
|
|
40
|
(OMIM)
|
Symmetric lesions in the basal ganglia consistent with Leigh syndrome (256000), in a subset of patients |
|
|
|
|
1 / 7739
|
|
41
|
(OMIM)
|
Decreased activity of cytochrome c oxidase in muscle and fibroblasts |
|
|
|
|
1 / 7739
|