|
1
|
(HPO:0000135)
|
Hypogonadism |
rare [HPO:skoehler]
|
|
|
|
89 / 7739
|
|
2
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
|
3
|
(HPO:0000518)
|
Cataract |
rare [HPO:skoehler]
|
|
|
|
454 / 7739
|
|
4
|
(HPO:0000590)
|
Progressive external ophthalmoplegia |
|
|
|
|
23 / 7739
|
|
5
|
(HPO:0000716)
|
Depression |
|
|
|
|
99 / 7739
|
|
6
|
(HPO:0000726)
|
Dementia |
|
|
|
|
131 / 7739
|
|
7
|
(HPO:0000819)
|
Diabetes mellitus |
rare [HPO:skoehler]
|
|
|
|
131 / 7739
|
|
8
|
(HPO:0000820)
|
Abnormality of the thyroid gland |
rare [HPO:skoehler]
|
|
|
|
19 / 7739
|
|
9
|
(HPO:0001250)
|
Seizures |
rare [HPO:skoehler]
|
|
|
|
1245 / 7739
|
|
10
|
(HPO:0001260)
|
Dysarthria |
rare [HPO:skoehler]
|
|
|
|
329 / 7739
|
|
11
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
12
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
|
13
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
14
|
(HPO:0001288)
|
Gait disturbance |
|
|
|
|
318 / 7739
|
|
15
|
(HPO:0001300)
|
Parkinsonism |
Very rare [HPO:skoehler]
|
|
|
|
75 / 7739
|
|
16
|
(HPO:0001618)
|
Dysphonia |
|
|
|
|
28 / 7739
|
|
17
|
(HPO:0001637)
|
Abnormality of the myocardium |
|
|
|
|
76 / 7739
|
|
18
|
(HPO:0001638)
|
Cardiomyopathy |
rare [HPO:skoehler]
|
|
|
|
192 / 7739
|
|
19
|
(HPO:0001662)
|
Bradycardia |
rare [HPO:skoehler]
|
|
|
|
41 / 7739
|
|
20
|
(HPO:0001730)
|
Progressive hearing impairment |
rare [HPO:skoehler]
|
|
|
|
29 / 7739
|
|
21
|
(HPO:0002015)
|
Dysphagia |
|
|
|
|
301 / 7739
|
|
22
|
(HPO:0002059)
|
Cerebral atrophy |
|
|
|
|
171 / 7739
|
|
23
|
(HPO:0002151)
|
Increased serum lactate |
|
|
|
|
92 / 7739
|
|
24
|
(HPO:0003200)
|
Ragged-red muscle fibers |
|
|
|
|
37 / 7739
|
|
25
|
(HPO:0003323)
|
Progressive muscle weakness |
|
|
|
|
17 / 7739
|
|
26
|
(HPO:0003326)
|
Myalgia |
|
|
|
|
143 / 7739
|
|
27
|
(HPO:0003390)
|
Sensory axonal neuropathy |
rare [HPO:skoehler]
|
|
|
|
26 / 7739
|
|
28
|
(HPO:0003458)
|
EMG: myopathic abnormalities |
|
|
|
|
38 / 7739
|
|
29
|
(HPO:0003546)
|
Exercise intolerance |
|
|
|
|
62 / 7739
|
|
30
|
(HPO:0003548)
|
Subsarcolemmal accumulations of abnormally shaped mitochondria |
|
|
|
|
9 / 7739
|
|
31
|
(HPO:0003688)
|
Decreased activity of cytochrome C oxidase in muscle tissue |
|
|
|
|
20 / 7739
|
|
32
|
(HPO:0003689)
|
Multiple mitochondrial DNA deletions |
|
|
|
|
12 / 7739
|
|
33
|
(HPO:0003690)
|
Limb muscle weakness |
|
|
|
|
41 / 7739
|
|
34
|
(HPO:0003701)
|
Proximal muscle weakness |
|
|
|
|
105 / 7739
|
|
35
|
(HPO:0008209)
|
Premature ovarian failure |
rare [HPO:skoehler]
|
|
|
|
28 / 7739
|
|
36
|
(HPO:0010871)
|
Sensory ataxia |
|
|
|
|
7 / 7739
|
|
37
|
(HPO:0012378)
|
Fatigue |
|
|
|
|
50 / 7739
|
|
38
|
(HPO:0010697)
|
Anterior pyramidal cataract |
|
|
|
|
22 / 7739
|
|
39
|
(HPO:0011675)
|
Arrhythmia |
|
|
|
|
226 / 7739
|
|
40
|
(OMIM)
|
Dysphagia, late-onset |
|
|
|
|
1 / 7739
|
|
41
|
(OMIM)
|
[DEL]EMG shows myopathic changes |
|
|
|
|
27 / 7739
|
|
42
|
(OMIM)
|
Decreased activity of cytochrome c oxidase |
|
|
|
|
3 / 7739
|
|
43
|
(OMIM)
|
Parkinsonism has been described in 1 family |
|
|
|
|
1 / 7739
|
|
44
|
(OMIM)
|
Gait difficulties, late-onset |
|
|
|
|
1 / 7739
|
|
45
|
(HPO:0001327)
|
Photomyoclonic seizures |
|
|
|
|
125 / 7739
|
|
46
|
(OMIM)
|
Dementia, late-onset |
|
|
|
|
1 / 7739
|
|
47
|
(OMIM)
|
Hypo- or areflexia |
|
|
|
|
4 / 7739
|
|
48
|
(OMIM)
|
Avoidant personality |
|
|
|
|
1 / 7739
|
|
49
|
(OMIM)
|
Dysphonia, late-onset |
|
|
|
|
1 / 7739
|
|
50
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
51
|
(HPO:0003581)
|
Adult onset |
|
|
|
|
117 / 7739
|
|
52
|
(HPO:0003676)
|
Progressive disorder |
|
|
|
|
148 / 7739
|