|
1
|
(HPO:0000114)
|
Proximal tubulopathy |
|
|
|
|
18 / 7739
|
|
2
|
(HPO:0000544)
|
External ophthalmoplegia |
|
|
|
|
40 / 7739
|
|
3
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
4
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
5
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
6
|
(HPO:0002066)
|
Gait ataxia |
|
|
|
|
327 / 7739
|
|
7
|
(HPO:0002344)
|
Progressive neurologic deterioration |
|
|
|
|
27 / 7739
|
|
8
|
(HPO:0003128)
|
Lactic acidosis |
|
|
|
|
116 / 7739
|
|
9
|
(HPO:0003355)
|
Aminoaciduria |
|
|
|
|
65 / 7739
|
|
10
|
(HPO:0004326)
|
Cachexia |
|
|
|
|
71 / 7739
|
|
11
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
|
12
|
(HPO:0001824)
|
Weight loss |
|
|
|
|
42 / 7739
|
|
13
|
(OMIM)
|
Poor visual contact |
|
|
|
|
2 / 7739
|
|
14
|
(OMIM)
|
Intestinal dysmotility (1 patient) |
|
|
|
|
1 / 7739
|
|
15
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
16
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
17
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
18
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
19
|
(OMIM)
|
Mitochondrial DNA depletion, severe |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Abnormal mitochondrial proliferation |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Cytochrome c oxidase deficiency |
|
|
|
|
2 / 7739
|
|
22
|
(HPO:0003200)
|
Ragged-red muscle fibers |
|
|
|
|
37 / 7739
|
|
23
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
24
|
(HPO:0003676)
|
Progressive disorder |
|
|
|
|
148 / 7739
|