|
1
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
2
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
3
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
|
4
|
(HPO:0001319)
|
Neonatal hypotonia |
|
|
|
|
101 / 7739
|
|
5
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
6
|
(HPO:0001332)
|
Dystonia |
|
|
|
|
197 / 7739
|
|
7
|
(HPO:0001336)
|
Myoclonus |
|
|
|
|
115 / 7739
|
|
8
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
9
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
|
10
|
(HPO:0001639)
|
Hypertrophic cardiomyopathy |
|
|
|
|
137 / 7739
|
|
11
|
(HPO:0001644)
|
Dilated cardiomyopathy |
|
|
|
|
141 / 7739
|
|
12
|
(HPO:0002151)
|
Increased serum lactate |
|
|
|
|
92 / 7739
|
|
13
|
(HPO:0002352)
|
Leukoencephalopathy |
|
|
|
|
32 / 7739
|
|
14
|
(HPO:0002376)
|
Developmental regression |
|
|
|
|
74 / 7739
|
|
15
|
(HPO:0003200)
|
Ragged-red muscle fibers |
|
|
|
|
37 / 7739
|
|
16
|
(HPO:0003487)
|
Babinski sign |
|
|
|
|
179 / 7739
|
|
17
|
(HPO:0003546)
|
Exercise intolerance |
|
|
|
|
62 / 7739
|
|
18
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
19
|
(HPO:0004897)
|
Stress/infection-induced lactic acidosis |
|
|
|
|
1 / 7739
|
|
20
|
(HPO:0006980)
|
Progressive leukoencephalopathy |
|
|
|
|
3 / 7739
|
|
21
|
(HPO:0008314)
|
Decreased activity of mitochondrial complex II |
|
|
|
|
7 / 7739
|
|
22
|
(HPO:0008316)
|
Abnormal mitochondria in muscle tissue |
|
|
|
|
5 / 7739
|
|
23
|
(HPO:0012240)
|
Increased intramyocellular lipid droplets |
|
|
|
|
7 / 7739
|
|
24
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
|
25
|
(OMIM)
|
[DEL]Ragged red fibers seen on muscle biopsy |
|
|
|
|
10 / 7739
|
|
26
|
(OMIM)
|
Abnormal mitochondria with paracrystalline inclusions seen on muscle biopsy |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Accumulated lipid droplets seen on muscle biopsy |
|
|
|
|
1 / 7739
|
|
28
|
(HPO:0100543)
|
Cognitive impairment |
|
|
|
|
230 / 7739
|
|
29
|
(OMIM)
|
Spongiform encephalomyelopathy |
|
|
|
|
1 / 7739
|
|
30
|
(OMIM)
|
Leigh syndrome (245000), in a subset of patients |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Kearns-Sayre syndrome (530000), in a subset of patients |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Lactic acidosis may occur with stress or infection |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Mildly increased serum lactate |
|
|
|
|
3 / 7739
|
|
34
|
(HPO:0000505)
|
Visual impairment |
|
|
|
|
297 / 7739
|
|
35
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
|
36
|
(HPO:0000580)
|
Pigmentary retinopathy |
|
|
|
|
49 / 7739
|
|
37
|
(HPO:0000602)
|
Ophthalmoplegia |
|
|
|
|
56 / 7739
|
|
38
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
39
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|