1
|
(HPO:0001924)
|
Sideroblastic anemia |
Very frequent [IBIS]
|
|
25638461
|
IBIS
|
12 / 7739
|
2
|
(HPO:0002151)
|
Increased serum lactate |
Very frequent [IBIS]
|
|
25638461
|
IBIS
|
92 / 7739
|
3
|
(HPO:0003128)
|
Lactic acidosis |
Very frequent [IBIS]
|
|
25638461
|
IBIS
|
116 / 7739
|
4
|
(HPO:0003737)
|
Mitochondrial myopathy |
Frequent [IBIS]
|
|
25638461
|
IBIS
|
18 / 7739
|
5
|
(HPO:0000508)
|
Ptosis |
|
|
23918765
|
IBIS
|
459 / 7739
|
6
|
(HPO:0001488)
|
Bilateral ptosis |
|
|
23918765
|
IBIS
|
42 / 7739
|
7
|
(HPO:0001508)
|
Failure to thrive |
|
|
23918765
|
IBIS
|
454 / 7739
|
8
|
(HPO:0001510)
|
Growth delay |
|
|
23918765
|
IBIS
|
295 / 7739
|
9
|
(HPO:0001639)
|
Hypertrophic cardiomyopathy |
|
|
25638461
|
IBIS
|
137 / 7739
|
10
|
(HPO:0002015)
|
Dysphagia |
|
|
24344687
|
IBIS
|
301 / 7739
|
11
|
(HPO:0002240)
|
Hepatomegaly |
|
|
24344687
|
IBIS
|
467 / 7739
|
12
|
(HPO:0002747)
|
Respiratory insufficiency due to muscle weakness |
|
|
24344687
|
IBIS
|
48 / 7739
|
13
|
(HPO:0002910)
|
Elevated hepatic transaminases |
|
|
24344687
|
IBIS
|
158 / 7739
|
14
|
(HPO:0003323)
|
Progressive muscle weakness |
|
|
24344687
|
IBIS
|
17 / 7739
|
15
|
(HPO:0003546)
|
Exercise intolerance |
|
|
23918765
|
IBIS
|
62 / 7739
|
16
|
(HPO:0003202)
|
Skeletal muscle atrophy |
|
|
23918765
|
IBIS
|
281 / 7739
|
17
|
(HPO:0003700)
|
Generalized amyotrophy |
|
|
23918765
|
IBIS
|
39 / 7739
|
18
|
(HPO:0100295)
|
Muscle fiber atrophy |
|
|
25638461
|
IBIS
|
22 / 7739
|
19
|
(OMIM)
|
Skeletal muscle biopsy shows subsarcolemmal mitochondrial aggregates |
|
|
20598274
|
IBIS
|
1 / 7739
|
20
|
(OMIM)
|
Rare ragged red fibers |
|
|
20598274
|
IBIS
|
1 / 7739
|
21
|
(OMIM)
|
Decreased cytochrome C oxidase activity |
|
|
20598274
|
IBIS
|
2 / 7739
|
22
|
(HPO:0001875)
|
Neutropenia |
|
|
25638461
|
IBIS
|
83 / 7739
|
23
|
(HPO:0001873)
|
Thrombocytopenia |
|
|
25638461
|
IBIS
|
224 / 7739
|
24
|
(HPO:0011923)
|
Decreased activity of mitochondrial complex I |
|
|
25638461
|
IBIS
|
35 / 7739
|
25
|
(HPO:0011924)
|
Decreased activity of mitochondrial complex III |
|
|
25638461
|
IBIS
|
22 / 7739
|
26
|
(HPO:0008347)
|
Decreased activity of mitochondrial complex IV |
|
|
25638461
|
IBIS
|
31 / 7739
|