|
1
|
(HPO:0000518)
|
Cataract |
rare [HPO:skoehler]
|
|
|
|
454 / 7739
|
|
2
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
3
|
(HPO:0001324)
|
Muscle weakness |
rare [HPO:skoehler]
|
|
|
|
859 / 7739
|
|
4
|
(HPO:0001513)
|
Obesity |
rare [HPO:skoehler]
|
|
|
|
172 / 7739
|
|
5
|
(HPO:0001639)
|
Hypertrophic cardiomyopathy |
|
|
|
|
137 / 7739
|
|
6
|
(HPO:0003128)
|
Lactic acidosis |
|
|
|
|
116 / 7739
|
|
7
|
(HPO:0003202)
|
Skeletal muscle atrophy |
rare [HPO:skoehler]
|
|
|
|
281 / 7739
|
|
8
|
(HPO:0003700)
|
Generalized amyotrophy |
|
|
|
|
39 / 7739
|
|
9
|
(HPO:0100295)
|
Muscle fiber atrophy |
|
|
|
|
22 / 7739
|
|
10
|
(HPO:0003326)
|
Myalgia |
|
|
|
|
143 / 7739
|
|
11
|
(HPO:0003546)
|
Exercise intolerance |
|
|
|
|
62 / 7739
|
|
12
|
(HPO:0100543)
|
Cognitive impairment |
rare [HPO:skoehler]
|
|
|
|
230 / 7739
|
|
13
|
(HPO:0010697)
|
Anterior pyramidal cataract |
|
|
|
|
22 / 7739
|
|
14
|
(OMIM)
|
High-arched feet (1 patient) |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Hammer-shaped toes (1 patient) |
|
|
|
|
1 / 7739
|
|
16
|
(HPO:0001771)
|
Achilles tendon contracture |
|
|
|
|
27 / 7739
|
|
17
|
(OMIM)
|
Ragged red fibers seen on biopsy |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Accumulation of abnormal mitochondria |
|
|
|
|
1 / 7739
|
|
19
|
(MedDRA:10051403)
|
Mitochondrial DNA deletion |
|
|
|
|
6 / 7739
|
|
20
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
21
|
(HPO:0003677)
|
Slow progression |
|
|
|
|
134 / 7739
|