|
1
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
|
2
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
|
3
|
(HPO:0000590)
|
Progressive external ophthalmoplegia |
|
|
|
|
23 / 7739
|
|
4
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
5
|
(HPO:0002013)
|
Vomiting |
|
|
|
|
191 / 7739
|
|
6
|
(HPO:0002019)
|
Constipation |
|
|
|
|
194 / 7739
|
|
7
|
(HPO:0002024)
|
Malabsorption |
|
|
|
|
142 / 7739
|
|
8
|
(HPO:0002027)
|
Abdominal pain |
|
|
|
|
184 / 7739
|
|
9
|
(HPO:0002254)
|
Intermittent diarrhea |
|
|
|
|
5 / 7739
|
|
10
|
(HPO:0002352)
|
Leukoencephalopathy |
|
|
|
|
32 / 7739
|
|
11
|
(HPO:0002460)
|
Distal muscle weakness |
|
|
|
|
122 / 7739
|
|
12
|
(HPO:0002578)
|
Gastroparesis |
|
|
|
|
11 / 7739
|
|
13
|
(HPO:0002579)
|
Gastrointestinal dysmotility |
|
|
|
|
11 / 7739
|
|
14
|
(HPO:0002936)
|
Distal sensory impairment |
|
|
|
|
96 / 7739
|
|
15
|
(HPO:0003128)
|
Lactic acidosis |
|
|
|
|
116 / 7739
|
|
16
|
(HPO:0003693)
|
Distal amyotrophy |
|
|
|
|
118 / 7739
|
|
17
|
(HPO:0003737)
|
Mitochondrial myopathy |
|
|
|
|
18 / 7739
|
|
18
|
(OMIM)
|
Weight loss, progressive |
|
|
|
|
2 / 7739
|
|
19
|
(OMIM)
|
Thin body habitus |
|
|
|
|
5 / 7739
|
|
20
|
(OMIM)
|
Marked cachexia |
|
|
|
|
2 / 7739
|
|
21
|
(OMIM)
|
Chronic malnutrition |
|
|
|
|
2 / 7739
|
|
22
|
(OMIM)
|
Chronic intestinal pseudoobstruction |
|
|
|
|
4 / 7739
|
|
23
|
(HPO:0012450)
|
Chronic constipation |
|
|
|
|
10 / 7739
|
|
24
|
(OMIM)
|
Diverticulosis |
|
|
|
|
2 / 7739
|
|
25
|
(MedDRA:10013538)
|
Diverticulitis |
|
|
|
|
2 / 7739
|
|
26
|
(MedDRA:10022694)
|
Intestinal perforation |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
[DEL]Ragged red fibers seen on muscle biopsy |
|
|
|
|
10 / 7739
|
|
28
|
(OMIM)
|
mtDNA depletion see on muscle biopsy |
|
|
|
|
2 / 7739
|
|
29
|
(OMIM)
|
Multiple mitochondrial DNA (mtDNA) deletions seen on muscle biopsy |
|
|
|
|
3 / 7739
|
|
30
|
(OMIM)
|
Decreased activity of cytochrome c oxidase in most cases seen on muscle biopsy |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Decreased activities of complexes I, III, and IV, variable |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Subsarcolemmal accumulations of abnormally shaped mitochondria seen on electron microscopy |
|
|
|
|
3 / 7739
|
|
33
|
(OMIM)
|
Hypodensity of cerebral white matter seen on MRI |
|
|
|
|
1 / 7739
|
|
34
|
(HPO:0009830)
|
Peripheral neuropathy |
|
|
|
|
206 / 7739
|
|
35
|
(OMIM)
|
Sensorimotor axonal/demyelinating neuropathy |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Decreased activity of thymidine phosphorylase |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Increased serum thymidine |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
Increased serum deoxyuridine |
|
|
|
|
1 / 7739
|