|
1
|
(HPO:0000029)
|
Testicular atrophy |
|
|
|
|
13 / 7739
|
|
2
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
|
3
|
(HPO:0008527)
|
Congenital sensorineural hearing impairment |
|
|
|
|
165 / 7739
|
|
4
|
(HPO:0008625)
|
Severe sensorineural hearing impairment |
|
|
|
|
150 / 7739
|
|
5
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
|
6
|
(HPO:0000518)
|
Cataract |
|
|
|
|
454 / 7739
|
|
7
|
(HPO:0000590)
|
Progressive external ophthalmoplegia |
|
|
|
|
23 / 7739
|
|
8
|
(HPO:0000716)
|
Depression |
|
|
|
|
99 / 7739
|
|
9
|
(HPO:0000786)
|
Primary amenorrhea |
|
|
|
|
61 / 7739
|
|
10
|
(HPO:0000815)
|
Hypergonadotropic hypogonadism |
|
|
|
|
48 / 7739
|
|
11
|
(HPO:0000869)
|
Secondary amenorrhea |
|
|
|
|
42 / 7739
|
|
12
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
13
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
|
14
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
|
15
|
(HPO:0002015)
|
Dysphagia |
|
|
|
|
301 / 7739
|
|
16
|
(HPO:0002063)
|
Rigidity |
|
|
|
|
92 / 7739
|
|
17
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
18
|
(HPO:0002066)
|
Gait ataxia |
|
|
|
|
327 / 7739
|
|
19
|
(HPO:0002067)
|
Bradykinesia |
|
|
|
|
62 / 7739
|
|
20
|
(HPO:0002151)
|
Increased serum lactate |
|
|
|
|
92 / 7739
|
|
21
|
(HPO:0002322)
|
Resting tremor |
|
|
|
|
14 / 7739
|
|
22
|
(HPO:0002548)
|
Parkinsonism with favorable response to dopaminergic medication |
|
|
|
|
13 / 7739
|
|
23
|
(HPO:0002578)
|
Gastroparesis |
|
|
|
|
11 / 7739
|
|
24
|
(HPO:0003202)
|
Skeletal muscle atrophy |
|
|
|
|
281 / 7739
|
|
25
|
(HPO:0003323)
|
Progressive muscle weakness |
|
|
|
|
17 / 7739
|
|
26
|
(HPO:0003390)
|
Sensory axonal neuropathy |
|
|
|
|
26 / 7739
|
|
27
|
(HPO:0003546)
|
Exercise intolerance |
|
|
|
|
62 / 7739
|
|
28
|
(HPO:0003690)
|
Limb muscle weakness |
|
|
|
|
41 / 7739
|
|
29
|
(HPO:0008209)
|
Premature ovarian failure |
|
|
|
|
28 / 7739
|
|
30
|
(HPO:0010628)
|
Facial palsy |
|
|
|
|
146 / 7739
|
|
31
|
(HPO:0010697)
|
Anterior pyramidal cataract |
|
|
|
|
22 / 7739
|
|
32
|
(OMIM)
|
Gastrointestinal pseudoobstruction |
|
|
|
|
1 / 7739
|
|
33
|
(HPO:0008734)
|
Decreased testicular size |
|
|
|
|
105 / 7739
|
|
34
|
(OMIM)
|
[DEL]EMG shows myopathic changes |
|
|
|
|
27 / 7739
|
|
35
|
(OMIM)
|
Muscle biopsy shows ragged red fibers |
|
|
|
|
4 / 7739
|
|
36
|
(OMIM)
|
Muscle biopsy shows increased variation in fiber size |
|
|
|
|
2 / 7739
|
|
37
|
(OMIM)
|
Muscle biopsy shows necrotic and atrophic fibers with centralized nuclei |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
Muscle biopsy shows multiple mitochondrial DNA (mtDNA) deletions |
|
|
|
|
3 / 7739
|
|
39
|
(OMIM)
|
Muscle biopsy shows decreased activity of cytochrome c oxidase |
|
|
|
|
3 / 7739
|
|
40
|
(OMIM)
|
Electron microscopy shows subsarcolemmal accumulations of abnormally shaped mitochondria |
|
|
|
|
2 / 7739
|
|
41
|
(HPO:0001300)
|
Parkinsonism |
|
|
|
|
75 / 7739
|
|
42
|
(OMIM)
|
Loss of pigmented neurons in the substantia nigra |
|
|
|
|
1 / 7739
|
|
43
|
(OMIM)
|
No Lewy bodies |
|
|
|
|
2 / 7739
|
|
44
|
(OMIM)
|
Distal sensory loss of proprioception and vibration sense |
|
|
|
|
1 / 7739
|
|
45
|
(MedDRA:10036601)
|
Premature menopause |
|
|
|
|
3 / 7739
|
|
46
|
(OMIM)
|
Decreased secondary sexual characteristics (in a subset of patients) |
|
|
|
|
1 / 7739
|
|
47
|
(OMIM)
|
Rhabdomyolysis in response to alcohol |
|
|
|
|
1 / 7739
|