1
|
(HPO:0000505)
|
Visual impairment |
|
|
20598281
|
IBIS
|
297 / 7739
|
2
|
(HPO:0000508)
|
Ptosis |
|
|
20598281
|
IBIS
|
459 / 7739
|
3
|
(HPO:0000602)
|
Ophthalmoplegia |
|
|
20598281
|
IBIS
|
56 / 7739
|
4
|
(HPO:0000639)
|
Nystagmus |
|
|
20598281
|
IBIS
|
555 / 7739
|
5
|
(HPO:0000648)
|
Optic atrophy |
|
|
20598281
|
IBIS
|
238 / 7739
|
6
|
(HPO:0001251)
|
Ataxia |
|
|
20598281
|
IBIS
|
413 / 7739
|
7
|
(HPO:0001260)
|
Dysarthria |
|
|
20598281
|
IBIS
|
329 / 7739
|
8
|
(HPO:0001263)
|
Global developmental delay |
|
|
20598281
|
IBIS
|
853 / 7739
|
9
|
(HPO:0001284)
|
Areflexia |
|
|
20598281
|
IBIS
|
198 / 7739
|
10
|
(HPO:0001349)
|
Facial diplegia |
|
|
20598281
|
IBIS
|
16 / 7739
|
11
|
(HPO:0001508)
|
Failure to thrive |
|
|
20598281
|
IBIS
|
454 / 7739
|
12
|
(HPO:0002151)
|
Increased serum lactate |
|
|
20598281
|
IBIS
|
92 / 7739
|
13
|
(HPO:0002376)
|
Developmental regression |
|
|
20598281
|
IBIS
|
74 / 7739
|
14
|
(HPO:0002490)
|
Increased CSF lactate |
|
|
20598281
|
IBIS
|
28 / 7739
|
15
|
(HPO:0002590)
|
Paralytic ileus |
|
|
20598281
|
IBIS
|
4 / 7739
|
16
|
(HPO:0002936)
|
Distal sensory impairment |
|
|
20598281
|
IBIS
|
96 / 7739
|
17
|
(HPO:0003202)
|
Skeletal muscle atrophy |
|
|
20598281
|
IBIS
|
281 / 7739
|
18
|
(OMIM)
|
Chewing/swallowing difficulties |
|
|
20598281
|
IBIS
|
3 / 7739
|
19
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
20598281
|
IBIS
|
990 / 7739
|
20
|
(HPO:0001324)
|
Muscle weakness |
|
|
20598281
|
IBIS
|
859 / 7739
|
21
|
(OMIM)
|
Brain imaging shows lesions in the thalami, brainstem, and cerebellum |
|
|
20598281
|
IBIS
|
1 / 7739
|
22
|
(OMIM)
|
Fibroblasts show decreased activity of mitochondrial respiratory complex I, complex III, complex IV, and complex V |
|
|
20598281
|
IBIS
|
2 / 7739
|
23
|
(HPO:0001271)
|
Polyneuropathy |
|
|
20598281
|
IBIS
|
56 / 7739
|
24
|
(HPO:0011923)
|
Decreased activity of mitochondrial complex I |
|
|
20598281
|
IBIS
|
35 / 7739
|
25
|
(HPO:0011924)
|
Decreased activity of mitochondrial complex III |
|
|
20598281
|
IBIS
|
22 / 7739
|
26
|
(HPO:0008347)
|
Decreased activity of mitochondrial complex IV |
|
|
20598281
|
IBIS
|
31 / 7739
|
27
|
(HPO:0011925)
|
Decreased activity of mitochondrial ATP synthase complex |
|
|
20598281
|
IBIS
|
10 / 7739
|