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