|
1
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
2
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
|
3
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
|
4
|
(HPO:0000590)
|
Progressive external ophthalmoplegia |
|
|
|
|
23 / 7739
|
|
5
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
6
|
(HPO:0002013)
|
Vomiting |
|
|
|
|
191 / 7739
|
|
7
|
(HPO:0002019)
|
Constipation |
|
|
|
|
194 / 7739
|
|
8
|
(HPO:0002024)
|
Malabsorption |
|
|
|
|
142 / 7739
|
|
9
|
(HPO:0002027)
|
Abdominal pain |
|
|
|
|
184 / 7739
|
|
10
|
(HPO:0002254)
|
Intermittent diarrhea |
|
|
|
|
5 / 7739
|
|
11
|
(HPO:0002352)
|
Leukoencephalopathy |
|
|
|
|
32 / 7739
|
|
12
|
(HPO:0002460)
|
Distal muscle weakness |
|
|
|
|
122 / 7739
|
|
13
|
(HPO:0002578)
|
Gastroparesis |
|
|
|
|
11 / 7739
|
|
14
|
(HPO:0002579)
|
Gastrointestinal dysmotility |
|
|
|
|
11 / 7739
|
|
15
|
(HPO:0002936)
|
Distal sensory impairment |
|
|
|
|
96 / 7739
|
|
16
|
(HPO:0003128)
|
Lactic acidosis |
|
|
|
|
116 / 7739
|
|
17
|
(HPO:0003200)
|
Ragged-red muscle fibers |
|
|
|
|
37 / 7739
|
|
18
|
(HPO:0003548)
|
Subsarcolemmal accumulations of abnormally shaped mitochondria |
|
|
|
|
9 / 7739
|
|
19
|
(HPO:0003676)
|
Progressive disorder |
|
|
|
|
148 / 7739
|
|
20
|
(HPO:0003688)
|
Decreased activity of cytochrome C oxidase in muscle tissue |
|
|
|
|
20 / 7739
|
|
21
|
(HPO:0003689)
|
Multiple mitochondrial DNA deletions |
|
|
|
|
12 / 7739
|
|
22
|
(HPO:0003693)
|
Distal amyotrophy |
|
|
|
|
118 / 7739
|
|
23
|
(HPO:0003737)
|
Mitochondrial myopathy |
|
|
|
|
18 / 7739
|
|
24
|
(HPO:0004326)
|
Cachexia |
|
|
|
|
71 / 7739
|
|
25
|
(HPO:0004395)
|
Malnutrition |
|
|
|
|
12 / 7739
|
|
26
|
(HPO:0007103)
|
Hypointensity of cerebral white matter on MRI |
|
|
|
|
3 / 7739
|
|
27
|
(HPO:0100613)
|
Death in early adulthood |
|
|
|
|
10 / 7739
|