|
1
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
|
2
|
(HPO:0000590)
|
Progressive external ophthalmoplegia |
|
|
|
|
23 / 7739
|
|
3
|
(HPO:0000833)
|
Glucose intolerance |
|
|
|
|
20 / 7739
|
|
4
|
(HPO:0001250)
|
Seizures |
rare [HPO:skoehler]
|
|
|
|
1245 / 7739
|
|
5
|
(HPO:0001263)
|
Global developmental delay |
rare [HPO:skoehler]
|
|
|
|
853 / 7739
|
|
6
|
(HPO:0001272)
|
Cerebellar atrophy |
rare [HPO:skoehler]
|
|
|
|
197 / 7739
|
|
7
|
(HPO:0001508)
|
Failure to thrive |
rare [HPO:skoehler]
|
|
|
|
454 / 7739
|
|
8
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
|
9
|
(HPO:0002019)
|
Constipation |
rare [HPO:skoehler]
|
|
|
|
194 / 7739
|
|
10
|
(HPO:0002020)
|
Gastroesophageal reflux |
rare [HPO:skoehler]
|
|
|
|
101 / 7739
|
|
11
|
(HPO:0002151)
|
Increased serum lactate |
|
|
|
|
92 / 7739
|
|
12
|
(HPO:0002910)
|
Elevated hepatic transaminases |
rare [HPO:skoehler]
|
|
|
|
158 / 7739
|
|
13
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
|
14
|
(HPO:0003323)
|
Progressive muscle weakness |
|
|
|
|
17 / 7739
|
|
15
|
(HPO:0003326)
|
Myalgia |
|
|
|
|
143 / 7739
|
|
16
|
(HPO:0003546)
|
Exercise intolerance |
|
|
|
|
62 / 7739
|
|
17
|
(HPO:0003688)
|
Decreased activity of cytochrome C oxidase in muscle tissue |
|
|
|
|
20 / 7739
|
|
18
|
(HPO:0003689)
|
Multiple mitochondrial DNA deletions |
|
|
|
|
12 / 7739
|
|
19
|
(HPO:0003690)
|
Limb muscle weakness |
|
|
|
|
41 / 7739
|
|
20
|
(HPO:0010628)
|
Facial palsy |
|
|
|
|
146 / 7739
|
|
21
|
(HPO:0011675)
|
Arrhythmia |
|
|
|
|
226 / 7739
|
|
22
|
(HPO:0100704)
|
Cortical visual impairment |
rare [HPO:skoehler]
|
|
|
|
28 / 7739
|
|
23
|
(HPO:0001392)
|
Abnormality of the liver |
|
|
|
|
28 / 7739
|
|
24
|
(OMIM)
|
Delayed gastric emptying |
|
|
|
|
2 / 7739
|
|
25
|
(OMIM)
|
Muscle biopsy shows multiple mitochondrial DNA (mtDNA) deletions |
|
|
|
|
3 / 7739
|
|
26
|
(OMIM)
|
Muscle biopsy shows decreased activity of cytochrome c oxidase |
|
|
|
|
3 / 7739
|
|
27
|
(HPO:0001327)
|
Photomyoclonic seizures |
|
|
|
|
125 / 7739
|
|
28
|
(HPO:0001252)
|
Muscular hypotonia |
rare [HPO:skoehler]
|
|
|
|
990 / 7739
|
|
29
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
30
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
31
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
32
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
33
|
(HPO:0003581)
|
Adult onset |
|
|
|
|
117 / 7739
|
|
34
|
(HPO:0003676)
|
Progressive disorder |
|
|
|
|
148 / 7739
|
|
35
|
(HPO:0003828)
|
Variable expressivity |
|
|
|
|
130 / 7739
|