1
|
(HPO:0000505)
|
Visual impairment |
rare [HPO:skoehler]
|
|
|
|
297 / 7739
|
2
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
3
|
(HPO:0000590)
|
Progressive external ophthalmoplegia |
|
|
|
|
23 / 7739
|
4
|
(HPO:0000648)
|
Optic atrophy |
rare [HPO:skoehler]
|
|
|
|
238 / 7739
|
5
|
(HPO:0000712)
|
Emotional lability |
|
|
|
|
44 / 7739
|
6
|
(HPO:0000716)
|
Depression |
|
|
|
|
99 / 7739
|
7
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
8
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
9
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
10
|
(HPO:0001300)
|
Parkinsonism |
|
|
|
|
75 / 7739
|
11
|
(HPO:0001618)
|
Dysphonia |
|
|
|
|
28 / 7739
|
12
|
(HPO:0001634)
|
Mitral valve prolapse |
|
|
|
|
69 / 7739
|
13
|
(HPO:0001637)
|
Abnormality of the myocardium |
|
|
|
|
76 / 7739
|
14
|
(HPO:0001638)
|
Cardiomyopathy |
Occasional [HPO]
|
|
|
|
192 / 7739
|
15
|
(HPO:0001653)
|
Mitral regurgitation |
|
|
|
|
64 / 7739
|
16
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
17
|
(HPO:0002015)
|
Dysphagia |
|
|
|
|
301 / 7739
|
18
|
(HPO:0002063)
|
Rigidity |
|
|
|
|
92 / 7739
|
19
|
(HPO:0002066)
|
Gait ataxia |
|
|
|
|
327 / 7739
|
20
|
(HPO:0002067)
|
Bradykinesia |
|
|
|
|
62 / 7739
|
21
|
(HPO:0002070)
|
Limb ataxia |
|
|
|
|
41 / 7739
|
22
|
(HPO:0002403)
|
Positive Romberg sign |
|
|
|
|
11 / 7739
|
23
|
(HPO:0002460)
|
Distal muscle weakness |
|
|
|
|
122 / 7739
|
24
|
(HPO:0002747)
|
Respiratory insufficiency due to muscle weakness |
|
|
|
|
48 / 7739
|
25
|
(HPO:0002922)
|
Increased CSF protein |
|
|
|
|
27 / 7739
|
26
|
(HPO:0003200)
|
Ragged-red muscle fibers |
|
|
|
|
37 / 7739
|
27
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
28
|
(HPO:0003376)
|
Steppage gait |
|
|
|
|
41 / 7739
|
29
|
(HPO:0003390)
|
Sensory axonal neuropathy |
|
|
|
|
26 / 7739
|
30
|
(HPO:0003434)
|
Sensory ataxic neuropathy |
|
|
|
|
4 / 7739
|
31
|
(HPO:0003458)
|
EMG: myopathic abnormalities |
|
|
|
|
38 / 7739
|
32
|
(HPO:0003546)
|
Exercise intolerance |
|
|
|
|
62 / 7739
|
33
|
(HPO:0003548)
|
Subsarcolemmal accumulations of abnormally shaped mitochondria |
|
|
|
|
9 / 7739
|
34
|
(HPO:0003557)
|
Increased variability in muscle fiber diameter |
|
|
|
|
24 / 7739
|
35
|
(HPO:0003688)
|
Decreased activity of cytochrome C oxidase in muscle tissue |
|
|
|
|
20 / 7739
|
36
|
(HPO:0003689)
|
Multiple mitochondrial DNA deletions |
|
|
|
|
12 / 7739
|
37
|
(HPO:0003700)
|
Generalized amyotrophy |
|
|
|
|
39 / 7739
|
38
|
(HPO:0003701)
|
Proximal muscle weakness |
|
|
|
|
105 / 7739
|
39
|
(HPO:0003713)
|
Muscle fiber necrosis |
|
|
|
|
8 / 7739
|
40
|
(HPO:0003737)
|
Mitochondrial myopathy |
|
|
|
|
18 / 7739
|
41
|
(HPO:0006858)
|
Impaired distal proprioception |
|
|
|
|
4 / 7739
|
42
|
(HPO:0006886)
|
Impaired distal vibration sensation |
|
|
|
|
8 / 7739
|
43
|
(HPO:0007641)
|
Dyschromatopsia |
rare [HPO:skoehler]
|
|
|
|
19 / 7739
|
44
|
(HPO:0008180)
|
Mildly elevated creatine phosphokinase |
|
|
|
|
28 / 7739
|
45
|
(HPO:0010628)
|
Facial palsy |
|
|
|
|
146 / 7739
|
46
|
(MedDRA:10057689)
|
Acquired claw toe |
|
|
|
|
4 / 7739
|
47
|
(OMIM)
|
Mitochondrial myopathy, severe |
|
|
|
|
1 / 7739
|
48
|
(OMIM)
|
Limb muscle weakness, upper and lower |
|
|
|
|
3 / 7739
|
49
|
(OMIM)
|
[DEL]EMG shows myopathic changes |
|
|
|
|
27 / 7739
|
50
|
(OMIM)
|
Myotonic discharges |
|
|
|
|
1 / 7739
|
51
|
(OMIM)
|
Fibrillations |
|
|
|
|
3 / 7739
|
52
|
(OMIM)
|
[DEL]Ragged red fibers seen on muscle biopsy |
|
|
|
|
10 / 7739
|
53
|
(OMIM)
|
Increased variation in fiber size seen on muscle biopsy |
|
|
|
|
1 / 7739
|
54
|
(OMIM)
|
Necrotic and atrophic fibers with centralized nuclei seen on muscle biopsy |
|
|
|
|
1 / 7739
|
55
|
(OMIM)
|
Multiple mitochondrial DNA (mtDNA) deletions seen on muscle biopsy |
|
|
|
|
3 / 7739
|
56
|
(OMIM)
|
Decreased activity of cytochrome c oxidase seen on muscle biopsy |
|
|
|
|
3 / 7739
|
57
|
(OMIM)
|
Subsarcolemmal accumulations of abnormally shaped mitochondria seen with electronmicroscopy |
|
|
|
|
1 / 7739
|
58
|
(HPO:0001288)
|
Gait disturbance |
|
|
|
|
318 / 7739
|
59
|
(OMIM)
|
Distal sensory loss of vibration and proprioception |
|
|
|
|
1 / 7739
|
60
|
(OMIM)
|
Decreased sensory nerve action potentials |
|
|
|
|
3 / 7739
|
61
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
62
|
(HPO:0003581)
|
Adult onset |
Common [HPO]
|
|
|
|
117 / 7739
|
63
|
(HPO:0003812)
|
Phenotypic variability |
|
|
|
|
129 / 7739
|