|
1
|
(HPO:0000365)
|
Hearing impairment |
|
|
|
|
539 / 7739
|
|
2
|
(HPO:0000518)
|
Cataract |
|
|
|
|
454 / 7739
|
|
3
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
4
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
5
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
6
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
7
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
8
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
|
9
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
|
|
197 / 7739
|
|
10
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
11
|
(HPO:0001396)
|
Cholestasis |
|
|
|
|
136 / 7739
|
|
12
|
(HPO:0001410)
|
Decreased liver function |
|
|
|
|
59 / 7739
|
|
13
|
(HPO:0001414)
|
Microvesicular hepatic steatosis |
|
|
|
|
9 / 7739
|
|
14
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
15
|
(HPO:0001942)
|
Metabolic acidosis |
|
|
|
|
81 / 7739
|
|
16
|
(HPO:0001943)
|
Hypoglycemia |
|
|
|
|
131 / 7739
|
|
17
|
(HPO:0001970)
|
Tubulointerstitial nephritis |
|
|
|
|
27 / 7739
|
|
18
|
(HPO:0002059)
|
Cerebral atrophy |
|
|
|
|
171 / 7739
|
|
19
|
(HPO:0002151)
|
Increased serum lactate |
|
|
|
|
92 / 7739
|
|
20
|
(HPO:0001808)
|
Fragile nails |
|
|
|
|
21 / 7739
|
|
21
|
(HPO:0002299)
|
Brittle hair |
|
|
|
|
52 / 7739
|
|
22
|
(HPO:0004779)
|
Brittle scalp hair |
|
|
|
|
4 / 7739
|
|
23
|
(HPO:0009886)
|
Trichorrhexis nodosa |
|
|
|
|
12 / 7739
|
|
24
|
(HPO:0002353)
|
EEG abnormality |
|
|
|
|
188 / 7739
|
|
25
|
(HPO:0002910)
|
Elevated hepatic transaminases |
|
|
|
|
158 / 7739
|
|
26
|
(HPO:0003128)
|
Lactic acidosis |
|
|
|
|
116 / 7739
|
|
27
|
(HPO:0003355)
|
Aminoaciduria |
|
|
|
|
65 / 7739
|
|
28
|
(HPO:0006789)
|
Mitochondrial encephalopathy |
|
|
|
|
5 / 7739
|
|
29
|
(OMIM)
|
Poor prenatal growth |
|
|
|
|
1 / 7739
|
|
30
|
(OMIM)
|
Poor growth, postnatal |
|
|
|
|
8 / 7739
|
|
31
|
(HPO:0010697)
|
Anterior pyramidal cataract |
|
|
|
|
22 / 7739
|
|
32
|
(OMIM)
|
Biopsy shows fibrosis |
|
|
|
|
1 / 7739
|
|
33
|
(MedDRA:10008604)
|
Cholangitis |
|
|
|
|
6 / 7739
|
|
34
|
(OMIM)
|
Hepatosiderosis |
|
|
|
|
2 / 7739
|
|
35
|
(OMIM)
|
Decreased complex III activity in liver tissue |
|
|
|
|
1 / 7739
|
|
36
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
|
37
|
(OMIM)
|
Renal tubulopathy |
|
|
|
|
4 / 7739
|
|
38
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
39
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
40
|
(OMIM)
|
[DEL]Ragged red fibers seen on muscle biopsy |
|
|
|
|
10 / 7739
|
|
41
|
(OMIM)
|
Decreased mitochondrial complex III activity |
|
|
|
|
3 / 7739
|
|
42
|
(OMIM)
|
Other mitochondrial complex enzyme activities may also be decreased |
|
|
|
|
1 / 7739
|
|
43
|
(MedDRA:10061296)
|
Motor dysfunction |
|
|
|
|
4 / 7739
|
|
44
|
(OMIM)
|
White matter lesions may occur in the thalami, basal ganglia, and periventricular white matter (see Leigh syndrome, 256000) |
|
|
|
|
1 / 7739
|
|
45
|
(OMIM)
|
Coagulation defect due to decreased liver function |
|
|
|
|
1 / 7739
|
|
46
|
(OMIM)
|
Decreased respiratory chain complex III activity in multiple tissues |
|
|
|
|
1 / 7739
|