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1
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(HPO:0000407)
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Sensorineural hearing impairment |
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524 / 7739
|
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2
|
(HPO:0008527)
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Congenital sensorineural hearing impairment |
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|
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165 / 7739
|
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3
|
(HPO:0008625)
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Severe sensorineural hearing impairment |
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|
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150 / 7739
|
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4
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(HPO:0000508)
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Ptosis |
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459 / 7739
|
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5
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(HPO:0000518)
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Cataract |
Rare [HPO]
|
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|
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454 / 7739
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6
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(HPO:0000590)
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Progressive external ophthalmoplegia |
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23 / 7739
|
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7
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(HPO:0000639)
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Nystagmus |
|
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|
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555 / 7739
|
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8
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(HPO:0000716)
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Depression |
|
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|
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99 / 7739
|
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9
|
(HPO:0001250)
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Seizures |
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|
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1245 / 7739
|
|
10
|
(HPO:0001260)
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Dysarthria |
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|
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329 / 7739
|
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11
|
(HPO:0001265)
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Hyporeflexia |
|
|
|
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208 / 7739
|
|
12
|
(HPO:0001284)
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Areflexia |
|
|
|
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198 / 7739
|
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13
|
(HPO:0001336)
|
Myoclonus |
|
|
|
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115 / 7739
|
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14
|
(HPO:0002169)
|
Clonus |
|
|
|
|
37 / 7739
|
|
15
|
(HPO:0001644)
|
Dilated cardiomyopathy |
|
|
|
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141 / 7739
|
|
16
|
(HPO:0001751)
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Vestibular dysfunction |
|
|
|
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19 / 7739
|
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17
|
(HPO:0002076)
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Migraine |
|
|
|
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41 / 7739
|
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18
|
(HPO:0002151)
|
Increased serum lactate |
|
|
|
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92 / 7739
|
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19
|
(HPO:0002403)
|
Positive Romberg sign |
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|
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11 / 7739
|
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20
|
(HPO:0002578)
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Gastroparesis |
|
|
|
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11 / 7739
|
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21
|
(HPO:0003200)
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Ragged-red muscle fibers |
|
|
|
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37 / 7739
|
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22
|
(HPO:0003390)
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Sensory axonal neuropathy |
|
|
|
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26 / 7739
|
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23
|
(HPO:0003434)
|
Sensory ataxic neuropathy |
|
|
|
|
4 / 7739
|
|
24
|
(HPO:0003548)
|
Subsarcolemmal accumulations of abnormally shaped mitochondria |
|
|
|
|
9 / 7739
|
|
25
|
(HPO:0003557)
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Increased variability in muscle fiber diameter |
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|
|
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24 / 7739
|
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26
|
(HPO:0003688)
|
Decreased activity of cytochrome C oxidase in muscle tissue |
|
|
|
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20 / 7739
|
|
27
|
(HPO:0003689)
|
Multiple mitochondrial DNA deletions |
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|
|
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12 / 7739
|
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28
|
(HPO:0003701)
|
Proximal muscle weakness |
|
|
|
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105 / 7739
|
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29
|
(HPO:0003713)
|
Muscle fiber necrosis |
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|
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8 / 7739
|
|
30
|
(HPO:0004389)
|
Intestinal pseudo-obstruction |
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|
|
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7 / 7739
|
|
31
|
(HPO:0006858)
|
Impaired distal proprioception |
|
|
|
|
4 / 7739
|
|
32
|
(HPO:0006886)
|
Impaired distal vibration sensation |
|
|
|
|
8 / 7739
|
|
33
|
(HPO:0007240)
|
Progressive gait ataxia |
|
|
|
|
7 / 7739
|
|
34
|
(HPO:0007344)
|
Atrophy/Degeneration involving the spinal cord |
|
|
|
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2 / 7739
|
|
35
|
(HPO:0008180)
|
Mildly elevated creatine phosphokinase |
|
|
|
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28 / 7739
|
|
36
|
(HPO:0100543)
|
Cognitive impairment |
|
|
|
|
230 / 7739
|
|
37
|
(OMIM)
|
Upward gaze paresis |
|
|
|
|
2 / 7739
|
|
38
|
(OMIM)
|
Ophthalmoparesis, progressive, external |
|
|
|
|
2 / 7739
|
|
39
|
(HPO:0010697)
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Anterior pyramidal cataract |
|
|
|
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22 / 7739
|
|
40
|
(HPO:0100771)
|
Hypoperistalsis |
|
|
|
|
5 / 7739
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|
41
|
(OMIM)
|
Mild proximal muscle weakness (<10% of patients) |
|
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|
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5 / 7739
|
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42
|
(OMIM)
|
[DEL]Ragged red fibers seen on muscle biopsy |
|
|
|
|
10 / 7739
|
|
43
|
(OMIM)
|
Necrotic and atrophic fibers with centralized nuclei |
|
|
|
|
2 / 7739
|
|
44
|
(OMIM)
|
Decreased activity of cytochrome c oxidase |
|
|
|
|
3 / 7739
|
|
45
|
(OMIM)
|
Subsarcolemmal accumulations of abnormally shaped mitochondria seen on electron microscopy |
|
|
|
|
3 / 7739
|
|
46
|
(OMIM)
|
Ataxia worsens in the dark |
|
|
|
|
2 / 7739
|
|
47
|
(HPO:0001327)
|
Photomyoclonic seizures |
|
|
|
|
125 / 7739
|
|
48
|
(OMIM)
|
Cognitive impairment, mild |
|
|
|
|
15 / 7739
|
|
49
|
(OMIM)
|
Bilateral thalamic lesions on MRI |
|
|
|
|
2 / 7739
|
|
50
|
(OMIM)
|
Cerebellar white matter lesions on MRI |
|
|
|
|
2 / 7739
|
|
51
|
(OMIM)
|
Distal sensory impairment to vibration and proprioception |
|
|
|
|
2 / 7739
|
|
52
|
(OMIM)
|
Sural nerve biopsy shows loss of large and small myelinated axons |
|
|
|
|
2 / 7739
|
|
53
|
(OMIM)
|
Memory difficulties |
|
|
|
|
2 / 7739
|
|
54
|
(OMIM)
|
Lack of concentration |
|
|
|
|
2 / 7739
|
|
55
|
(OMIM)
|
Withdrawal |
|
|
|
|
2 / 7739
|
|
56
|
(OMIM)
|
Mildly increased serum lactate |
|
|
|
|
3 / 7739
|
|
57
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
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2538 / 7739
|
|
58
|
(HPO:0003581)
|
Adult onset |
|
|
|
|
117 / 7739
|
|
59
|
(HPO:0003812)
|
Phenotypic variability |
|
|
|
|
129 / 7739
|