|
1
|
(HPO:0000365)
|
Hearing impairment |
rare [HPO:skoehler]
|
|
|
|
539 / 7739
|
|
2
|
(HPO:0000501)
|
Glaucoma |
rare [HPO:skoehler]
|
|
|
|
180 / 7739
|
|
3
|
(HPO:0007906)
|
Increased intraocular pressure |
|
|
|
|
30 / 7739
|
|
4
|
(HPO:0000508)
|
Ptosis |
rare [HPO:skoehler]
|
|
|
|
459 / 7739
|
|
5
|
(HPO:0001488)
|
Bilateral ptosis |
|
|
|
|
42 / 7739
|
|
6
|
(HPO:0006136)
|
Bilateral postaxial polydactyly |
|
|
|
|
30 / 7739
|
|
7
|
(HPO:0000590)
|
Progressive external ophthalmoplegia |
|
|
|
|
23 / 7739
|
|
8
|
(HPO:0000739)
|
Anxiety |
rare [HPO:skoehler]
|
|
|
|
67 / 7739
|
|
9
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
10
|
(HPO:0001265)
|
Hyporeflexia |
rare [HPO:skoehler]
|
|
|
|
208 / 7739
|
|
11
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
12
|
(HPO:0001315)
|
Reduced tendon reflexes |
|
|
|
|
160 / 7739
|
|
13
|
(HPO:0002015)
|
Dysphagia |
rare [HPO:skoehler]
|
|
|
|
301 / 7739
|
|
14
|
(HPO:0002066)
|
Gait ataxia |
rare [HPO:skoehler]
|
|
|
|
327 / 7739
|
|
15
|
(HPO:0003546)
|
Exercise intolerance |
|
|
|
|
62 / 7739
|
|
16
|
(HPO:0003689)
|
Multiple mitochondrial DNA deletions |
|
|
|
|
12 / 7739
|
|
17
|
(HPO:0003750)
|
Increased muscle fatiguability |
|
|
|
|
8 / 7739
|
|
18
|
(OMIM)
|
Gastrointestinal disturbances |
|
|
|
|
1 / 7739
|
|
19
|
(HPO:0003198)
|
Myopathy |
|
|
|
|
151 / 7739
|
|
20
|
(OMIM)
|
Decreased activity of cytochrome c oxidase seen on muscle biopsy |
|
|
|
|
3 / 7739
|
|
21
|
(HPO:0003200)
|
Ragged-red muscle fibers |
|
|
|
|
37 / 7739
|
|
22
|
(HPO:0000716)
|
Depression |
|
|
|
|
99 / 7739
|
|
23
|
(HPO:0000740)
|
Episodic paroxysmal anxiety |
|
|
|
|
8 / 7739
|
|
24
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|